Variant report

Variant	nsv881727
Chromosome Location	chr5:61578041-61700970
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2656)
CpG islands
(count:1709)
Chromatin interactive
region (count:177)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:10)

(count:2656 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:61618221-61618789	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:61699036-61700109	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:61649868-61650221	K562	blood:	n/a	n/a
4	ARID3A	chr5:61699656-61699817	K562	blood:	n/a	n/a
5	ARID3A	chr5:61602387-61602432	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:61687693-61687715	K562	blood:	n/a	n/a
7	ARID3A	chr5:61601596-61602035	K562	blood:	n/a	n/a
8	ARID3A	chr5:61606306-61606906	K562	blood:	n/a	chr5:61606316-61606332 chr5:61606317-61606333
9	ARID3A	chr5:61616421-61616482	K562	blood:	n/a	n/a
10	ARID3A	chr5:61581142-61581749	K562	blood:	n/a	n/a
11	ARID3A	chr5:61636213-61636522	K562	blood:	n/a	n/a
12	ARID3A	chr5:61604107-61605112	K562	blood:	n/a	n/a
13	ATF1	chr5:61601469-61601973	K562	blood:	n/a	n/a
14	ATF1	chr5:61602787-61603228	K562	blood:	n/a	n/a
15	ATF1	chr5:61615299-61615590	K562	blood:	n/a	n/a
16	ATF1	chr5:61611644-61612194	K562	blood:	n/a	n/a
17	ATF1	chr5:61671894-61672228	K562	blood:	n/a	n/a
18	ATF1	chr5:61639197-61639457	K562	blood:	n/a	n/a
19	ATF2	chr5:61699045-61700071	GM12878	blood:	n/a	n/a
20	ATF2	chr5:61698225-61698704	GM12878	blood:	n/a	n/a
21	ATF2	chr5:61581060-61581772	GM12878	blood:	n/a	n/a
22	ATF2	chr5:61601195-61601869	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr5:61602618-61603330	GM12878	blood:	n/a	n/a
24	ATF2	chr5:61601440-61601953	GM12878	blood:	n/a	n/a
25	ATF2	chr5:61602882-61603260	GM12878	blood:	n/a	n/a
26	ATF2	chr5:61585539-61586054	GM12878	blood:	n/a	n/a
27	ATF2	chr5:61601492-61602007	GM12878	blood:	n/a	n/a
28	ATF2	chr5:61699181-61699707	GM12878	blood:	n/a	n/a
29	ATF2	chr5:61698223-61698688	GM12878	blood:	n/a	n/a
30	ATF2	chr5:61581126-61581699	GM12878	blood:	n/a	n/a
31	ATF3	chr5:61623290-61623528	K562	blood:	n/a	n/a
32	ATF3	chr5:61601549-61601955	K562	blood:	n/a	n/a
33	BACH1	chr5:61581356-61581733	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr5:61699604-61699737	K562	blood:	n/a	n/a
35	BACH1	chr5:61699200-61700159	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr5:61602999-61603280	K562	blood:	n/a	n/a
37	BACH1	chr5:61671903-61672298	K562	blood:	n/a	chr5:61672102-61672116
38	BACH1	chr5:61601831-61602559	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr5:61681544-61681781	K562	blood:	n/a	n/a
40	BATF	chr5:61581190-61581653	GM12878	blood:	n/a	n/a
41	BATF	chr5:61585629-61585959	GM12878	blood:	n/a	n/a
42	BATF	chr5:61649854-61650142	GM12878	blood:	n/a	n/a
43	BATF	chr5:61622106-61622440	GM12878	blood:	n/a	n/a
44	BATF	chr5:61581091-61581716	GM12878	blood:	n/a	n/a
45	BATF	chr5:61649863-61650241	GM12878	blood:	n/a	chr5:61650199-61650207
46	BATF	chr5:61585678-61585957	GM12878	blood:	n/a	n/a
47	BCL11A	chr5:61581080-61581596	GM12878	blood:	n/a	n/a
48	BCL11A	chr5:61613072-61613276	GM12878	blood:	n/a	n/a
49	BCL11A	chr5:61581191-61581488	GM12878	blood:	n/a	n/a
50	BCL3	chr5:61699225-61699905	GM12878	blood:	n/a	n/a

(count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:61699751-61699801	NHBE	bronchial:	n/a
2	chr5:61699751-61699801	NHBE	bronchial:	n/a
3	chr5:61602127-61602177	AG09319	gingival:	n/a
4	chr5:61623163-61623213	HepG2	liver:	n/a
5	chr5:61623163-61623213	GM12891	blood:	n/a
6	chr5:61699286-61699336	HUVEC	blood vessel:	n/a
7	chr5:61699868-61699918	T-47D	breast:	n/a
8	chr5:61601629-61601679	NT2-D1	testis:	n/a
9	chr5:61698089-61698139	ProgFib	skin:	n/a
10	chr5:61601529-61601579	GM12891	blood:	n/a
11	chr5:61699751-61699801	HNPCEpiC	eye:	n/a
12	chr5:61602105-61602155	A549	lung:	n/a
13	chr5:61699841-61699891	SAEC	small airway:	n/a
14	chr5:61601647-61601697	MCF10A-Er-Src	breast:	n/a
15	chr5:61601647-61601697	Hela-S3	cervix:	n/a
16	chr5:61699841-61699891	HPAEpiC	pulmonary alveolar:	n/a
17	chr5:61699868-61699918	SK-N-SH_RA	brain:	n/a
18	chr5:61601128-61601178	HRE	kidney:	n/a
19	chr5:61601636-61601686	BE2_C	brain:	n/a
20	chr5:61699834-61699884	BJ	skin:	n/a
21	chr5:61682030-61682080	MCF10A-Er-Src	breast:	n/a
22	chr5:61601128-61601178	AG04449	skin:	fetal
23	chr5:61699286-61699336	MCF10A-Er-Src	breast:	n/a
24	chr5:61612144-61612194	K562	blood:	n/a
25	chr5:61699834-61699884	SK-N-SH	brain:	n/a
26	chr5:61602127-61602177	SAEC	small airway:	n/a
27	chr5:61699868-61699918	PrEC	prostate:	n/a
28	chr5:61699868-61699918	ProgFib	skin:	n/a
29	chr5:61682030-61682080	Hepatocyte	liver:	n/a
30	chr5:61684420-61684470	AG04449	skin:	fetal
31	chr5:61699834-61699884	PANC-1	pancreas:	n/a
32	chr5:61684420-61684470	HMEC	breast:	n/a
33	chr5:61699957-61700007	HAEpiC	amniotic membrane:	n/a
34	chr5:61601647-61601697	HUVEC	blood vessel:	n/a
35	chr5:61699868-61699918	Jurkat	blood:	n/a
36	chr5:61682030-61682080	GM12878	blood:	n/a
37	chr5:61699868-61699918	Hela-S3	cervix:	n/a
38	chr5:61699957-61700007	GM12878	blood:	n/a
39	chr5:61598126-61598176	HRE	kidney:	n/a
40	chr5:61598126-61598176	SK-N-MC	brain:	n/a
41	chr5:61699416-61699466	HCT-116	colon:	n/a
42	chr5:61598126-61598176	PANC-1	pancreas:	n/a
43	chr5:61699868-61699918	RPTEC	kidney:	n/a
44	chr5:61601128-61601178	K562	blood:	n/a
45	chr5:61612144-61612194	CMK	blood:	n/a
46	chr5:61623163-61623213	SKMC	muscle:	n/a
47	chr5:61623163-61623213	HEEpiC	esophagus:	n/a
48	chr5:61699751-61699801	NT2-D1	testis:	n/a
49	chr5:61700164-61700214	MCF-7	breast:	n/a
50	chr5:61605247-61605297	PrEC	prostate:	n/a

(count:177 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr5:61680991..61682651-chr5:61682681..61685489,2	MCF-7	breast:
2	chr5:61593407..61596088-chr5:61596627..61599078,2	K562	blood:
3	chr5:61650135..61652240-chr5:61707537..61709877,2	K562	blood:
4	chr5:61581288..61583777-chr5:61597562..61600246,2	K562	blood:
5	chr5:61601235..61603085-chr5:61628618..61631390,2	K562	blood:
6	chr5:61555924..61558214-chr5:61579881..61582380,2	K562	blood:
7	chr5:61560375..61564102-chr5:61592918..61596892,3	K562	blood:
8	chr5:61601612..61603523-chr5:61647478..61650855,3	MCF-7	breast:
9	chr5:61560442..61563605-chr5:61575064..61578930,3	K562	blood:
10	chr5:61581120..61583166-chr5:61590441..61591948,2	MCF-7	breast:
11	chr5:61601204..61604053-chr5:61644459..61647400,2	MCF-7	breast:
12	chr5:61683430..61685907-chr5:61688335..61689954,2	MCF-7	breast:
13	chr5:61645079..61646734-chr5:61646742..61649036,2	K562	blood:
14	chr5:61680086..61685494-chr5:61685831..61690801,7	MCF-7	breast:
15	chr5:61677896..61680511-chr5:61698286..61699795,2	K562	blood:
16	chr5:61617006..61619910-chr5:61629943..61631558,2	K562	blood:
17	chr5:61582450..61585582-chr5:61601200..61603470,3	MCF-7	breast:
18	chr5:61555834..61558737-chr5:61608990..61611037,2	MCF-7	breast:
19	chr11:9482051..9482929-chr5:61699444..61700280,2	Hela-S3	cervix:
20	chr5:61580058..61581807-chr5:61582180..61584252,2	K562	blood:
21	chr5:61600400..61604450-chr5:61613587..61619204,8	MCF-7	breast:
22	chr5:61695775..61698135-chr5:61722484..61724142,2	K562	blood:
23	chr5:61680177..61684134-chr5:61684359..61686623,3	K562	blood:
24	chr5:61697532..61701694-chr5:61703408..61710603,12	MCF-7	breast:
25	chr5:61682628..61684149-chr5:61691709..61694293,2	MCF-7	breast:
26	chr5:61680177..61684134-chr5:61684359..61686623,3	K562	blood:
27	chr5:61614359..61618770-chr5:61621420..61626796,7	K562	blood:
28	chr5:61694523..61696770-chr5:61697647..61700221,3	MCF-7	breast:
29	chr5:61595104..61596657-chr5:61598306..61600036,2	K562	blood:
30	chr10:94050798..94051586-chr5:61601516..61602145,2	Hela-S3	cervix:
31	chr5:61682102..61684562-chr5:61689312..61693081,3	K562	blood:
32	chr5:61645558..61647477-chr5:61657497..61659462,2	K562	blood:
33	chr5:61591991..61594374-chr5:61603392..61605599,2	K562	blood:
34	chr5:61627722..61630548-chr5:61641622..61644001,2	MCF-7	breast:
35	chr5:61638389..61640483-chr5:61640496..61643629,3	K562	blood:
36	chr5:61554817..61557688-chr5:61629619..61631265,2	K562	blood:
37	chr5:61662871..61665721-chr5:61681464..61684214,2	K562	blood:
38	chr1:206808422..206809021-chr5:61699809..61700322,2	NB4	blood:
39	chr5:61609391..61611692-chr5:61614218..61617054,2	K562	blood:
40	chr5:61604639..61607587-chr5:61647579..61650088,2	MCF-7	breast:
41	chr5:61622140..61623707-chr5:61625823..61627844,2	K562	blood:
42	chr5:61684677..61686970-chr5:61690927..61693209,3	K562	blood:
43	chr3:123679554..123680185-chr5:61699459..61700173,2	NB4	blood:
44	chr5:61687760..61696371-chr5:61696777..61701236,17	K562	blood:
45	chr5:61581120..61583166-chr5:61590441..61591948,2	MCF-7	breast:
46	chr1:110950335..110950883-chr5:61699378..61700371,2	Hela-S3	cervix:
47	chr5:61611699..61613753-chr5:61626529..61628835,2	K562	blood:
48	chr5:61638389..61640483-chr5:61640496..61643629,3	K562	blood:
49	chr5:61686012..61687975-chr5:61698243..61700042,2	MCF-7	breast:
50	chr5:61622140..61623707-chr5:61625823..61627844,2	K562	blood:

No data

(count:10 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KIF2A	hsa-miR-16-5p	chr5:61681406-61681413
2	KIF2A	hsa-miR-1	chr5:61681910-61681931
3	DIMT1L	hsa-miR-101-3p	chr5:61684519-61684539
4	DIMT1L	hsa-miR-192-5p	chr5:61684806-61684826
5	DIMT1L	hsa-miR-215-5p	chr5:61684806-61684826
6	KIF2A	hsa-miR-183-5p	chr5:61682014-61682021
7	KIF2A	hsa-miR-1	chr5:61681924-61681930
8	KIF2A	hsa-miR-1	chr5:61682052-61682075
9	KIF2A	hsa-miR-16-5p	chr5:61681397-61681413
10	KIF2A	hsa-miR-183-5p	chr5:61681997-61682021

Variant related genes	Relation type
KIF2A	TF binding region
IPO11	TF binding region
DIMT1	TF binding region
KIF2A	CpG island
IPO11	CpG island
DIMT1	CpG island
ENSG00000227450	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000232828	chromatin interactions
ENSG00000113387	chromatin interactions
ENSG00000101224	chromatin interactions
ENSG00000127948	chromatin interactions
ENSG00000113407	chromatin interactions
ENSG00000143479	chromatin interactions
ENSG00000086200	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000068796	chromatin interactions
ENSG00000056661	chromatin interactions
ENSG00000107816	chromatin interactions
ENSG00000265020	chromatin interactions
ENSG00000198060	chromatin interactions
ENSG00000237605	chromatin interactions
ENSG00000134248	chromatin interactions
ENSG00000224699	chromatin interactions
ENSG00000175455	chromatin interactions
ENSG00000086189	chromatin interactions
ENSG00000121690	chromatin interactions
ENSG00000107864	chromatin interactions

Extended variants
information (count: 4332 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:4332 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16890606	chr5:61578041-61578042	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs55822651	chr5:61578096-61578097	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533615616	chr5:61578125-61578126	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181618075	chr5:61578138-61578139	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs16890608	chr5:61578139-61578140	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139051950	chr5:61578215-61578216	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549360957	chr5:61578265-61578266	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562893964	chr5:61578275-61578276	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530806666	chr5:61578296-61578297	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550931375	chr5:61578302-61578303	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79826461	chr5:61578315-61578316	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185797775	chr5:61578353-61578354	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546481281	chr5:61578361-61578362	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs76185910	chr5:61578375-61578376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114989393	chr5:61578414-61578415	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569038684	chr5:61578418-61578419	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144004169	chr5:61578432-61578433	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs574928089	chr5:61578448-61578449	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199570264	chr5:61578515-61578516	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190356060	chr5:61578600-61578601	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558472928	chr5:61578619-61578620	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34479607	chr5:61578648-61578649	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536711387	chr5:61578649-61578650	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs398050442	chr5:61578659-61578660	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs578187980	chr5:61578755-61578756	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549570347	chr5:61578785-61578786	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs540778149	chr5:61578817-61578818	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs140203869	chr5:61578852-61578853	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183364063	chr5:61578917-61578918	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143900267	chr5:61578920-61578921	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562857703	chr5:61578928-61578929	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372017468	chr5:61579011-61579012	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556155713	chr5:61579052-61579053	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs377315867	chr5:61579254-61579255	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550598310	chr5:61579266-61579267	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564359283	chr5:61579270-61579271	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs367665448	chr5:61579414-61579415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533086947	chr5:61579425-61579426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546740959	chr5:61579441-61579442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374593588	chr5:61579465-61579466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574390938	chr5:61579492-61579493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566577629	chr5:61579622-61579623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73119516	chr5:61579629-61579630	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548708259	chr5:61579807-61579808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541731826	chr5:61579832-61579833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145816067	chr5:61579881-61579882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557474567	chr5:61579946-61579947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554063798	chr5:61579963-61579964	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs578169204	chr5:61579970-61579971	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187803417	chr5:61579971-61579972	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3961 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61575800-61578200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:61575800-61579000	Enhancers	HMEC	breast
3	chr5:61575800-61580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:61576800-61579200	Weak transcription	Placenta	Placenta
5	chr5:61577000-61580400	Enhancers	Fetal Intestine Large	intestine
6	chr5:61577400-61578800	Enhancers	Brain Germinal Matrix	brain
7	chr5:61577400-61579600	Enhancers	K562	blood
8	chr5:61577400-61580600	Enhancers	Fetal Intestine Small	intestine
9	chr5:61577800-61578200	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:61577800-61578200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:61577800-61578200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:61577800-61578200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:61577800-61579400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:61578200-61578400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:61578200-61578400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:61578200-61578800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:61578200-61581000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:61578800-61579000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:61578800-61580200	Enhancers	Hela-S3	cervix
20	chr5:61579000-61579200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr5:61579000-61579400	Enhancers	Duodenum Mucosa	Duodenum
22	chr5:61579200-61579400	Enhancers	Placenta	Placenta
23	chr5:61579200-61579400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr5:61579200-61579400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr5:61579400-61580200	Weak transcription	Placenta	Placenta
26	chr5:61579400-61583000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:61579600-61580000	Weak transcription	K562	blood
28	chr5:61580000-61581400	Enhancers	K562	blood
29	chr5:61580200-61580600	Enhancers	Placenta	Placenta
30	chr5:61580200-61582000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:61580200-61582800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:61580400-61581400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:61580400-61582000	ZNF genes & repeats	GM12878-XiMat	blood
34	chr5:61580400-61582800	Weak transcription	Fetal Intestine Large	intestine
35	chr5:61580400-61585000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:61580600-61582000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr5:61580600-61582800	Weak transcription	Placenta	Placenta
38	chr5:61580800-61581400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr5:61580800-61581600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr5:61581000-61581200	Enhancers	Primary T cells from cord blood	blood
41	chr5:61581000-61581800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr5:61581000-61581800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr5:61581000-61581800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:61581000-61581800	Enhancers	Esophagus	oesophagus
45	chr5:61581000-61582000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr5:61581000-61582200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr5:61581000-61583400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr5:61581000-61584200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:61581200-61583000	Weak transcription	Primary T cells from cord blood	blood
50	chr5:61581400-61581600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links