Variant report

Variant	esv3341981
Chromosome Location	chr1:150526128-150530326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:112)
CpG islands
(count:366)
Chromatin interactive
region (count:19)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:112 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:150528915-150529115	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr1:150526515-150526568	K562	blood:	n/a	n/a
3	CTCF	chr1:150528215-150528237	GM12891	blood:	n/a	n/a
4	CTCF	chr1:150528177-150528326	GM19239	blood:	n/a	n/a
5	HEY1	chr1:150529683-150529991	K562	blood:	n/a	n/a
6	HEY1	chr1:150527601-150527806	K562	blood:	n/a	n/a
7	HEY1	chr1:150526147-150526388	K562	blood:	n/a	n/a
8	HEY1	chr1:150527961-150528342	K562	blood:	n/a	n/a
9	HMGN3	chr1:150526320-150526608	K562	blood:	n/a	n/a
10	HNF4A	chr1:150527256-150527499	HepG2	liver:	n/a	n/a
11	MAX	chr1:150528094-150528417	K562	blood:	n/a	chr1:150528258-150528268 chr1:150528248-150528258 chr1:150528280-150528290 chr1:150528232-150528242
12	MAX	chr1:150528051-150528444	HUVEC	blood vessel:	n/a	chr1:150528258-150528268 chr1:150528248-150528258 chr1:150528280-150528290 chr1:150528232-150528242
13	MAX	chr1:150528117-150528350	A549	lung:	n/a	chr1:150528258-150528268 chr1:150528248-150528258 chr1:150528280-150528290 chr1:150528232-150528242
14	MAX	chr1:150528060-150528426	K562	blood:	n/a	chr1:150528258-150528268 chr1:150528248-150528258 chr1:150528280-150528290 chr1:150528232-150528242
15	MAX	chr1:150528046-150528439	NB4	blood:	n/a	chr1:150528258-150528268 chr1:150528248-150528258 chr1:150528280-150528290 chr1:150528232-150528242
16	MAX	chr1:150528198-150528424	H1-hESC	embryonic stem cell:	n/a	chr1:150528258-150528268 chr1:150528248-150528258 chr1:150528280-150528290 chr1:150528232-150528242
17	MAX	chr1:150528242-150528383	HepG2	liver:	n/a	chr1:150528258-150528268 chr1:150528248-150528258 chr1:150528280-150528290
18	MAZ	chr1:150528059-150528117	Hela-S3	cervix:	n/a	n/a
19	MYC	chr1:150527751-150527839	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr1:150528163-150528334	MCF-7	breast:	n/a	chr1:150528258-150528268 chr1:150528248-150528258 chr1:150528280-150528290 chr1:150528232-150528242
21	MYC	chr1:150528175-150528280	MCF-7	breast:	n/a	chr1:150528258-150528268 chr1:150528248-150528258 chr1:150528232-150528242
22	MYC	chr1:150528196-150528256	GM12878	blood:	n/a	chr1:150528232-150528242
23	MYC	chr1:150528186-150528264	MCF-7	breast:	n/a	chr1:150528248-150528258 chr1:150528232-150528242
24	MYC	chr1:150528147-150528296	HUVEC	blood vessel:	n/a	chr1:150528258-150528268 chr1:150528248-150528258 chr1:150528280-150528290 chr1:150528232-150528242
25	PML	chr1:150526154-150526599	K562	blood:	n/a	n/a
26	PML	chr1:150528216-150528759	K562	blood:	n/a	n/a
27	POLR2A	chr1:150528399-150528409	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:150527584-150528561	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:150528062-150528073	MCF-7	breast:	n/a	n/a
30	POLR2A	chr1:150527943-150528643	K562	blood:	n/a	n/a
31	POLR2A	chr1:150521554-150527416	K562	blood:	n/a	n/a
32	POLR2A	chr1:150527147-150527275	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr1:150523206-150526233	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr1:150529833-150530009	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr1:150527909-150529456	K562	blood:	n/a	n/a
36	POLR2A	chr1:150520901-150527655	K562	blood:	n/a	n/a
37	POLR2A	chr1:150528034-150528589	PANC-1	pancreas:	n/a	n/a
38	POLR2A	chr1:150527943-150528820	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr1:150526277-150526306	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:150530124-150530166	HepG2	liver:	n/a	n/a
41	POLR2A	chr1:150527145-150527725	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:150526402-150527220	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr1:150528416-150528814	HepG2	liver:	n/a	n/a
44	POLR2A	chr1:150523899-150527453	K562	blood:	n/a	n/a
45	POLR2A	chr1:150528122-150528126	ProgFib	skin:	n/a	n/a
46	POLR2A	chr1:150528074-150528087	MCF-7	breast:	n/a	n/a
47	POLR2A	chr1:150527676-150527702	K562	blood:	n/a	n/a
48	POLR2A	chr1:150527707-150536765	K562	blood:	n/a	n/a
49	POLR2A	chr1:150527120-150527261	A549	lung:	n/a	n/a
50	POLR2A	chr1:150528269-150528468	A549	lung:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:150529891-150529941	K562	blood:	n/a
2	chr1:150529891-150529941	MCF-7	breast:	n/a
3	chr1:150529170-150529220	K562	blood:	n/a
4	chr1:150529828-150529878	BJ	skin:	n/a
5	chr1:150529664-150529714	GM12891	blood:	n/a
6	chr1:150529842-150529892	CMK	blood:	n/a
7	chr1:150529761-150529811	AG04450	lung:	fetal
8	chr1:150529842-150529892	HCPEpiC	choroid plexus:	n/a
9	chr1:150529761-150529811	AG04449	skin:	fetal
10	chr1:150529761-150529811	NH-A	brain:	n/a
11	chr1:150529891-150529941	ProgFib	skin:	n/a
12	chr1:150529170-150529220	U87	brain:	n/a
13	chr1:150529170-150529220	AG04450	lung:	fetal
14	chr1:150529891-150529941	IMR90	lung:	fetal
15	chr1:150529828-150529878	T-47D	breast:	n/a
16	chr1:150529170-150529220	NHBE	bronchial:	n/a
17	chr1:150529664-150529714	PANC-1	pancreas:	n/a
18	chr1:150529664-150529714	HAEpiC	amniotic membrane:	n/a
19	chr1:150529842-150529892	HCM	heart:	n/a
20	chr1:150529891-150529941	NHDF-neo	bronchial:	n/a
21	chr1:150529664-150529714	A549	lung:	n/a
22	chr1:150529170-150529220	SK-N-SH_RA	brain:	n/a
23	chr1:150529170-150529220	IMR90	lung:	fetal
24	chr1:150529170-150529220	HRE	kidney:	n/a
25	chr1:150529842-150529892	HRE	kidney:	n/a
26	chr1:150529761-150529811	CMK	blood:	n/a
27	chr1:150529761-150529811	K562	blood:	n/a
28	chr1:150529842-150529892	Hepatocyte	liver:	n/a
29	chr1:150529664-150529714	SAEC	small airway:	n/a
30	chr1:150529842-150529892	RPTEC	kidney:	n/a
31	chr1:150529891-150529941	CMK	blood:	n/a
32	chr1:150529828-150529878	HAEpiC	amniotic membrane:	n/a
33	chr1:150529842-150529892	NHBE	bronchial:	n/a
34	chr1:150529761-150529811	MCF-7	breast:	n/a
35	chr1:150529828-150529878	ECC-1	luminal epithelium:	n/a
36	chr1:150529842-150529892	HCF	heart:	n/a
37	chr1:150529664-150529714	AG10803	skin:	n/a
38	chr1:150529170-150529220	SK-N-MC	brain:	n/a
39	chr1:150529842-150529892	HCT-116	colon:	n/a
40	chr1:150529891-150529941	Caco-2	colon:	n/a
41	chr1:150529170-150529220	AG10803	skin:	n/a
42	chr1:150529761-150529811	HNPCEpiC	eye:	n/a
43	chr1:150529828-150529878	SK-N-MC	brain:	n/a
44	chr1:150529761-150529811	HMEC	breast:	n/a
45	chr1:150529761-150529811	HepG2	liver:	n/a
46	chr1:150529842-150529892	HRCEpiC	kidney:	n/a
47	chr1:150529842-150529892	Jurkat	blood:	n/a
48	chr1:150529170-150529220	SK-N-SH	brain:	n/a
49	chr1:150529828-150529878	AG09319	gingival:	n/a
50	chr1:150529828-150529878	SK-N-SH_RA	brain:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150525634..150527613-chr1:150540715..150543005,2	MCF-7	breast:
2	chr1:150523106..150526873-chr1:150601148..150603781,4	K562	blood:
3	chr1:150455871..150459967-chr1:150528884..150531556,5	MCF-7	breast:
4	chr1:150477731..150480329-chr1:150524886..150527200,2	K562	blood:
5	chr1:150459506..150461248-chr1:150526641..150528384,2	MCF-7	breast:
6	chr1:150457583..150461907-chr1:150523895..150528793,6	MCF-7	breast:
7	chr1:150444253..150446450-chr1:150524781..150526459,2	MCF-7	breast:
8	chr1:150526992..150529114-chr1:150602291..150603866,2	MCF-7	breast:
9	chr1:150527190..150529408-chr1:150779450..150780987,2	MCF-7	breast:
10	chr1:150525936..150528012-chr1:150866007..150868752,2	MCF-7	breast:
11	chr1:150486264..150488828-chr1:150527799..150530470,2	K562	blood:
12	chr1:150524590..150529971-chr1:150532220..150535147,6	MCF-7	breast:
13	chr1:150488004..150490276-chr1:150524720..150527758,3	K562	blood:
14	chr1:150486269..150489101-chr1:150530293..150532763,2	MCF-7	breast:
15	chr1:150525142..150527669-chr1:150783785..150786516,2	MCF-7	breast:
16	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
17	chr1:150487509..150490227-chr1:150524920..150527758,2	K562	blood:
18	chr1:150335216..150336742-chr1:150529512..150532436,2	MCF-7	breast:
19	chr1:150479471..150482388-chr1:150523973..150526628,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf138-1	chr1:150530315-150530949	ENSG00000237781.1
2	lnc-C1orf138-1	chr1:150529084-150529160	ENSG00000237781.2
3	lnc-C1orf138-1	chr1:150530169-150530199	ENSG00000237781.1
4	lnc-C1orf138-1	chr1:150528624-150528693	ENSG00000237781.2
5	lnc-C1orf138-1	chr1:150528624-150528693	ENSG00000237781.1
6	lnc-C1orf138-1	chr1:150530169-150530200	ENSG00000237781.2
7	lnc-C1orf138-1	chr1:150528430-150528528	ENSG00000237781.2
8	lnc-C1orf138-1	chr1:150528430-150528528	ENSG00000237781.1
9	lnc-C1orf138-1	chr1:150527011-150527208	ENSG00000237781.1
10	lnc-C1orf138-1	chr1:150529084-150529160	ENSG00000237781.1
11	lnc-C1orf138-1	chr1:150527011-150527208	ENSG00000237781.2

No data

Variant related genes	Relation type
ADAMTSL4	TF binding region
ENSG00000237781	TF binding region
ADAMTSL4	CpG island
ENSG00000237781	CpG island
ENSG00000143384	chromatin interactions
ENSG00000228126	chromatin interactions
ENSG00000200175	chromatin interactions
ENSG00000264584	chromatin interactions
ENSG00000143374	chromatin interactions
ENSG00000163125	chromatin interactions
ENSG00000143387	chromatin interactions
ENSG00000203804	chromatin interactions
ENSG00000143369	chromatin interactions
ENSG00000143420	chromatin interactions

Extended variants
information (count: 296 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147803174	chr1:150526134-150526135	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs145240194	chr1:150526141-150526142	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs375539424	chr1:150526145-150526146	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs150189250	chr1:150526146-150526147	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs368893787	chr1:150526173-150526174	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs377690308	chr1:150526182-150526183	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs199705015	chr1:150526202-150526203	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs372604857	chr1:150526210-150526211	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs587616373	chr1:150526211-150526212	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs140535012	chr1:150526215-150526216	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs145673891	chr1:150526216-150526217	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs142905991	chr1:150526221-150526222	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs587691401	chr1:150526226-150526227	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs377120955	chr1:150526231-150526232	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs199473693	chr1:150526234-150526235	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs587728833	chr1:150526253-150526254	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs369322301	chr1:150526255-150526256	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs587626697	chr1:150526265-150526266	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs41317517	chr1:150526270-150526271	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376319833	chr1:150526294-150526295	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs150503018	chr1:150526312-150526313	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs373499967	chr1:150526375-150526376	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs587739158	chr1:150526379-150526380	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs374601828	chr1:150526383-150526384	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs142705142	chr1:150526387-150526388	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs76075180	chr1:150526393-150526394	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs6681639	chr1:150526406-150526407	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs587721308	chr1:150526424-150526425	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs201641579	chr1:150526446-150526447	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs373492306	chr1:150526471-150526472	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs142354320	chr1:150526474-150526475	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs374008923	chr1:150526476-150526477	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs367790205	chr1:150526477-150526478	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs587703375	chr1:150526480-150526481	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs370107497	chr1:150526499-150526500	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs587608856	chr1:150526500-150526501	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs199723016	chr1:150526527-150526528	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs75477151	chr1:150526565-150526566	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs74346873	chr1:150526622-150526623	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs41317519	chr1:150526631-150526632	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs587673237	chr1:150526638-150526639	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs41317521	chr1:150526677-150526678	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs587726826	chr1:150526678-150526679	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs188568590	chr1:150526731-150526732	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs587679884	chr1:150526746-150526747	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs587732229	chr1:150526761-150526762	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs138209983	chr1:150526781-150526782	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs41317523	chr1:150526787-150526788	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372010340	chr1:150526826-150526827	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs587766449	chr1:150526828-150526829	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150521600-150532600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:150522000-150526400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:150522400-150532800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:150522600-150526200	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:150522600-150530200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:150522600-150531200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:150522600-150532200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:150522800-150526200	Enhancers	Primary B cells from cord blood	blood
9	chr1:150522800-150526200	Enhancers	Liver	Liver
10	chr1:150522800-150526400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:150522800-150526600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:150522800-150527200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:150522800-150527400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:150522800-150528000	Weak transcription	Aorta	Aorta
15	chr1:150522800-150532200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:150523000-150526400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:150523200-150526200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:150523200-150528000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:150523400-150526200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:150524000-150527800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:150524000-150532600	Weak transcription	Primary T cells from cord blood	blood
22	chr1:150524200-150526600	Enhancers	Colon Smooth Muscle	Colon
23	chr1:150524200-150527200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:150524400-150527200	Genic enhancers	Fetal Muscle Leg	muscle
25	chr1:150524600-150526400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:150524600-150526400	Enhancers	HMEC	breast
27	chr1:150524600-150527200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:150524600-150532000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:150524600-150532600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:150524600-150532600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:150524800-150526200	Enhancers	Stomach Mucosa	stomach
32	chr1:150524800-150528000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:150524800-150531800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:150524800-150532200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:150525000-150528000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:150525000-150531000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:150525200-150526400	Enhancers	Adipose Nuclei	Adipose
38	chr1:150525200-150526800	Weak transcription	Fetal Brain Female	brain
39	chr1:150525200-150527800	Weak transcription	Gastric	stomach
40	chr1:150525200-150528600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:150525200-150528800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:150525400-150526200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:150525400-150526200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:150525400-150526600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:150525400-150527800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:150525400-150528000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:150525400-150528000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:150525400-150528000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:150525400-150528000	Weak transcription	Fetal Kidney	kidney
50	chr1:150525400-150528200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links