Variant report

Variant	esv3424987
Chromosome Location	chr1:45278957-45283908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:365)
CpG islands
(count:367)
Chromatin interactive
region (count:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:45280766-45280950	HepG2	liver:	n/a	n/a
2	ATF2	chr1:45279482-45279795	GM12878	blood:	n/a	n/a
3	BACH1	chr1:45279302-45279748	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCLAF1	chr1:45279348-45279813	GM12878	blood:	n/a	n/a
5	BCLAF1	chr1:45279287-45279876	GM12878	blood:	n/a	n/a
6	BHLHE40	chr1:45279335-45279790	GM12878	blood:	n/a	n/a
7	CEBPB	chr1:45283598-45283823	HepG2	liver:	n/a	chr1:45283717-45283728
8	CEBPB	chr1:45283592-45283793	A549	lung:	n/a	chr1:45283717-45283728
9	CEBPB	chr1:45281059-45281447	MCF-7	breast:	n/a	chr1:45281296-45281307
10	CEBPB	chr1:45281243-45281393	K562	blood:	n/a	chr1:45281296-45281307
11	CEBPB	chr1:45283613-45283816	IMR90	lung:	n/a	chr1:45283717-45283728
12	CEBPB	chr1:45281092-45281467	IMR90	lung:	n/a	chr1:45281296-45281307
13	CEBPB	chr1:45281166-45281387	HepG2	liver:	n/a	chr1:45281296-45281307
14	CHD1	chr1:45279345-45279860	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr1:45279506-45279799	GM12878	blood:	n/a	n/a
16	CHD2	chr1:45279330-45279744	GM12878	blood:	n/a	n/a
17	CHD2	chr1:45279521-45279691	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr1:45279357-45279736	A549	lung:	n/a	n/a
19	CREB1	chr1:45279266-45279783	GM12878	blood:	n/a	n/a
20	CTCF	chr1:45280774-45280921	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr1:45280720-45280870	K562	blood:	n/a	n/a
22	CTCF	chr1:45280700-45280850	GM12872	blood:	n/a	n/a
23	CTCF	chr1:45280680-45280830	HMEC	breast:	n/a	n/a
24	CTCF	chr1:45280807-45280812	IMR90	lung:	n/a	n/a
25	CTCF	chr1:45280680-45280830	RPTEC	kidney:	n/a	n/a
26	CTCF	chr1:45280631-45281119	K562	blood:	n/a	n/a
27	CTCF	chr1:45280743-45280936	MCF-7	breast:	n/a	n/a
28	CTCF	chr1:45280760-45280910	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr1:45280744-45280939	MCF-7	breast:	n/a	n/a
30	CTCF	chr1:45280760-45280910	GM06990	blood:	n/a	n/a
31	CTCF	chr1:45280780-45280930	NB4	blood:	n/a	n/a
32	CTCF	chr1:45280760-45280910	Caco-2	colon:	n/a	n/a
33	CTCF	chr1:45279180-45279330	HRE	kidney:	n/a	n/a
34	CTCF	chr1:45280683-45280931	K562	blood:	n/a	n/a
35	CTCF	chr1:45280760-45280933	K562	blood:	n/a	n/a
36	CTCF	chr1:45280780-45280930	AG04449	skin:	n/a	n/a
37	CTCF	chr1:45280800-45280950	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:45280760-45280910	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr1:45280772-45280914	NHEK	skin:	n/a	n/a
40	CTCF	chr1:45280760-45280910	HCFaa	heart:	n/a	n/a
41	CTCF	chr1:45280780-45280930	NHEK	skin:	n/a	n/a
42	CTCF	chr1:45280680-45280972	K562	blood:	n/a	n/a
43	CTCF	chr1:45280820-45280970	RPTEC	kidney:	n/a	n/a
44	CTCF	chr1:45280720-45280870	AG04449	skin:	n/a	n/a
45	CTCF	chr1:45280760-45280910	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr1:45280760-45280910	HMF	breast:	n/a	n/a
47	CTCF	chr1:45280721-45280967	K562	blood:	n/a	n/a
48	CTCF	chr1:45280720-45280870	HMEC	breast:	n/a	n/a
49	CTCF	chr1:45280740-45280890	AG10803	skin:	n/a	n/a
50	CTCF	chr1:45280740-45280890	HEK293	kidney:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:45279329-45279379	AG09309	skin:	n/a
2	chr1:45279329-45279379	AG09309	skin:	n/a
3	chr1:45279684-45279734	HL-60	blood:	n/a
4	chr1:45279349-45279399	GM12892	blood:	n/a
5	chr1:45279684-45279734	Hepatocyte	liver:	n/a
6	chr1:45279132-45279182	NHDF-neo	bronchial:	n/a
7	chr1:45279329-45279379	NHDF-neo	bronchial:	n/a
8	chr1:45279684-45279734	T-47D	breast:	n/a
9	chr1:45279329-45279379	BJ	skin:	n/a
10	chr1:45279132-45279182	SKMC	muscle:	n/a
11	chr1:45278971-45279021	HUVEC	blood vessel:	n/a
12	chr1:45278971-45279021	HRE	kidney:	n/a
13	chr1:45279684-45279734	Hela-S3	cervix:	n/a
14	chr1:45279329-45279379	A549	lung:	n/a
15	chr1:45279329-45279379	Caco-2	colon:	n/a
16	chr1:45279329-45279379	H1-hESC	embryonic stem cell:	embryo
17	chr1:45279132-45279182	BE2_C	brain:	n/a
18	chr1:45279684-45279734	ECC-1	luminal epithelium:	n/a
19	chr1:45279684-45279734	GM12891	blood:	n/a
20	chr1:45279329-45279379	HCM	heart:	n/a
21	chr1:45279132-45279182	SK-N-SH_RA	brain:	n/a
22	chr1:45279684-45279734	CMK	blood:	n/a
23	chr1:45279638-45279688	HEK293	kidney:	embryo
24	chr1:45279349-45279399	NHDF-neo	bronchial:	n/a
25	chr1:45278971-45279021	HCF	heart:	n/a
26	chr1:45279638-45279688	SAEC	small airway:	n/a
27	chr1:45279329-45279379	NT2-D1	testis:	n/a
28	chr1:45279329-45279379	GM12878	blood:	n/a
29	chr1:45279132-45279182	AG04450	lung:	fetal
30	chr1:45279349-45279399	HIPEpiC	eye:	n/a
31	chr1:45279684-45279734	NH-A	brain:	n/a
32	chr1:45278971-45279021	PFSK-1	brain:	n/a
33	chr1:45279349-45279399	ECC-1	luminal epithelium:	n/a
34	chr1:45279349-45279399	AG04449	skin:	fetal
35	chr1:45279684-45279734	Caco-2	colon:	n/a
36	chr1:45278971-45279021	NB4	blood:	n/a
37	chr1:45279329-45279379	AoSMC	blood vessel:	n/a
38	chr1:45279329-45279379	BE2_C	brain:	n/a
39	chr1:45278971-45279021	AG10803	skin:	n/a
40	chr1:45279638-45279688	AG09319	gingival:	n/a
41	chr1:45279638-45279688	HCPEpiC	choroid plexus:	n/a
42	chr1:45279638-45279688	HAEpiC	amniotic membrane:	n/a
43	chr1:45279684-45279734	AG04449	skin:	fetal
44	chr1:45279349-45279399	HRCEpiC	kidney:	n/a
45	chr1:45279684-45279734	PrEC	prostate:	n/a
46	chr1:45279349-45279399	HUVEC	blood vessel:	n/a
47	chr1:45279349-45279399	SKMC	muscle:	n/a
48	chr1:45279349-45279399	IMR90	lung:	fetal
49	chr1:45279349-45279399	MCF10A-Er-Src	breast:	n/a
50	chr1:45279329-45279379	K562	blood:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45283441..45287322-chr1:45806283..45809735,5	K562	blood:
2	chr1:45183794..45190315-chr1:45281186..45287888,32	MCF-7	breast:
3	chr1:45265198..45265799-chr1:45280406..45281268,2	MCF-7	breast:
4	chr1:45282564..45285374-chr1:45331380..45332950,2	K562	blood:
5	chr1:45280595..45282374-chr1:45476299..45478541,2	MCF-7	breast:
6	chr1:45283844..45285860-chr1:45395492..45398129,3	K562	blood:
7	chr1:11968061..11969967-chr1:45283683..45286236,2	MCF-7	breast:
8	chr1:45203367..45205545-chr1:45283633..45285875,3	MCF-7	breast:
9	chr1:45193356..45196908-chr1:45277414..45280591,3	MCF-7	breast:
10	chr1:45246681..45259677-chr1:45281336..45290057,25	MCF-7	breast:
11	chr1:45179633..45191596-chr1:45283435..45288613,20	MCF-7	breast:
12	chr1:45281654..45283302-chr1:45765117..45767703,2	K562	blood:
13	chr1:45283510..45287262-chr1:45964108..45968951,6	K562	blood:
14	chr1:45193443..45200768-chr1:45280884..45289784,25	MCF-7	breast:
15	chr1:45282917..45288387-chr1:45449365..45456835,12	K562	blood:
16	chr1:45282320..45290015-chr1:45470338..45482903,45	K562	blood:
17	chr1:45283791..45286747-chr1:45955379..45957255,3	MCF-7	breast:
18	chr1:45282552..45287322-chr1:45800975..45809178,15	K562	blood:
19	chr1:45184399..45189674-chr1:45270870..45279135,15	MCF-7	breast:
20	chr1:45283391..45288738-chr1:46048072..46051277,6	K562	blood:
21	chr1:45282609..45288514-chr1:45767803..45773154,13	K562	blood:
22	chr1:45239959..45246724-chr1:45282430..45287057,13	MCF-7	breast:
23	chr1:45259402..45259909-chr1:45280335..45280900,2	MCF-7	breast:
24	chr1:45279599..45282542-chr1:45767964..45769557,2	K562	blood:
25	chr1:45239429..45243402-chr1:45282541..45287001,15	MCF-7	breast:
26	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
27	chr1:45282334..45285552-chr1:45442428..45444971,3	K562	blood:
28	chr1:45283389..45288095-chr1:45474959..45480313,6	MCF-7	breast:
29	chr1:45281186..45291350-chr1:45463934..45483092,44	K562	blood:
30	chr1:45282552..45286546-chr1:45802804..45805880,5	K562	blood:
31	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
32	chr1:45283607..45286477-chr11:65634041..65636204,2	K562	blood:
33	chr1:45283851..45286108-chr1:244998692..245001656,2	K562	blood:
34	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
35	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
36	chr1:45282724..45285089-chr1:70684930..70687197,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTBD19-1	chr1:45282505-45282510	XLOC_000166
2	lnc-BTBD19-1	chr1:45282569-45283445	XLOC_000166

No data

Variant related genes	Relation type
BTBD19	TF binding region
BTBD19	CpG island
ENSG00000264294	chromatin interactions
ENSG00000198520	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000142959	chromatin interactions
ENSG00000162415	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000232369	chromatin interactions
ENSG00000200169	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000070759	chromatin interactions
ENSG00000132773	chromatin interactions
ENSG00000228988	chromatin interactions
ENSG00000253039	chromatin interactions
ENSG00000207421	chromatin interactions
ENSG00000126107	chromatin interactions
ENSG00000132763	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000199377	chromatin interactions
ENSG00000202031	chromatin interactions
ENSG00000116754	chromatin interactions
ENSG00000203667	chromatin interactions
ENSG00000172638	chromatin interactions
ENSG00000070785	chromatin interactions
ENSG00000132781	chromatin interactions
ENSG00000132780	chromatin interactions
ENSG00000236624	chromatin interactions
ENSG00000234093	chromatin interactions
ENSG00000142945	chromatin interactions
ENSG00000200913	chromatin interactions
RAB5A	miRNA target sites
SMAD4	miRNA target sites

Extended variants
information (count: 227 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572964170	chr1:45279073-45279074	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs370497052	chr1:45279083-45279084	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs373734469	chr1:45279122-45279123	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs367915194	chr1:45279133-45279134	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
5	rs538321731	chr1:45279153-45279154	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs371715428	chr1:45279206-45279207	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs530548627	chr1:45279279-45279280	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs543723317	chr1:45279307-45279308	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs375499398	chr1:45279368-45279369	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs368383881	chr1:45279404-45279405	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs532714371	chr1:45279449-45279450	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs552343595	chr1:45279454-45279455	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs565942881	chr1:45279493-45279494	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs373795892	chr1:45279516-45279517	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs554796209	chr1:45279519-45279520	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs568331873	chr1:45279520-45279521	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs368986942	chr1:45279533-45279534	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs370918173	chr1:45279579-45279580	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs537463533	chr1:45279616-45279617	Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs570753256	chr1:45279619-45279620	Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs539782439	chr1:45279643-45279644	Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs117344385	chr1:45279648-45279649	Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs573076170	chr1:45279666-45279667	Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs370243473	chr1:45279667-45279668	Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs541530291	chr1:45279703-45279704	Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs11584031	chr1:45279716-45279717	Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs201181299	chr1:45279750-45279751	Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
28	rs371648956	chr1:45279753-45279754	Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs575278064	chr1:45279759-45279760	Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
30	rs544173081	chr1:45279774-45279775	Active TSS Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs58285160	chr1:45279810-45279811	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs57491062	chr1:45279812-45279813	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs11211038	chr1:45279813-45279814	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs192141172	chr1:45279814-45279815	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs374570708	chr1:45279821-45279822	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs546092399	chr1:45279824-45279825	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs113223337	chr1:45279836-45279837	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs148061166	chr1:45279840-45279841	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs528701709	chr1:45279844-45279845	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs200696633	chr1:45279845-45279846	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs565005455	chr1:45279848-45279849	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs372685600	chr1:45279861-45279862	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs367681598	chr1:45279865-45279866	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs548537279	chr1:45279868-45279869	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs57634867	chr1:45279869-45279870	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs71587724	chr1:45279882-45279883	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs61411780	chr1:45279886-45279887	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs59529471	chr1:45279888-45279889	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs530951127	chr1:45279898-45279899	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs113290937	chr1:45279900-45279901	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45274200-45279200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:45274400-45279000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:45274800-45279000	Enhancers	Fetal Thymus	thymus
4	chr1:45275000-45279000	Genic enhancers	Placenta	Placenta
5	chr1:45275200-45279000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:45275200-45279400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr1:45275400-45279200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:45275400-45279200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr1:45275800-45279000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:45275800-45279000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:45275800-45279200	Weak transcription	Fetal Kidney	kidney
12	chr1:45275800-45281600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:45276000-45279000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:45276000-45279200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:45276000-45279800	Enhancers	NHDF-Ad	bronchial
16	chr1:45276000-45280600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:45276200-45279200	Enhancers	Primary T cells from cord blood	blood
18	chr1:45276200-45279600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:45276400-45279000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr1:45276400-45279000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:45276400-45279000	Weak transcription	Small Intestine	intestine
22	chr1:45276400-45279200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:45276400-45279200	Weak transcription	Fetal Lung	lung
24	chr1:45276600-45279000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:45276600-45279000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:45276600-45279000	Weak transcription	NHEK	skin
27	chr1:45276600-45279200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:45276600-45280600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:45277000-45279800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:45277600-45279000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:45277600-45279000	Weak transcription	GM12878-XiMat	blood
32	chr1:45277600-45279400	Genic enhancers	NHLF	lung
33	chr1:45277600-45279800	Enhancers	HUVEC	blood vessel
34	chr1:45277800-45279000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:45277800-45279000	Enhancers	Spleen	Spleen
36	chr1:45277800-45279200	Weak transcription	Ovary	ovary
37	chr1:45277800-45280000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:45277800-45282000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:45278000-45279000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:45278000-45279000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr1:45278000-45279000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:45278000-45279000	Enhancers	Fetal Muscle Trunk	muscle
43	chr1:45278000-45279000	Genic enhancers	Fetal Muscle Leg	muscle
44	chr1:45278000-45279000	Weak transcription	A549	lung
45	chr1:45278000-45279000	Weak transcription	HSMM	muscle
46	chr1:45278000-45279000	Weak transcription	Osteobl	bone
47	chr1:45278000-45279600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:45278000-45284800	Weak transcription	Hela-S3	cervix
49	chr1:45278200-45279200	Enhancers	HMEC	breast
50	chr1:45278200-45284800	Weak transcription	K562	blood

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