Variant report

Variant	nsv1026837
Chromosome Location	chr8:11394466-11464127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2460)
CpG islands
(count:1160)
Chromatin interactive
region (count:56)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2460 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:11446987-11447268	HepG2	liver:	n/a	n/a
2	ATF2	chr8:11421987-11422609	GM12878	blood:	n/a	n/a
3	ATF2	chr8:11421419-11423115	GM12878	blood:	n/a	n/a
4	ATF2	chr8:11396080-11397110	GM12878	blood:	n/a	n/a
5	ATF2	chr8:11446903-11447247	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr8:11411191-11411587	GM12878	blood:	n/a	n/a
7	ATF2	chr8:11395042-11395933	GM12878	blood:	n/a	n/a
8	ATF2	chr8:11411156-11411616	GM12878	blood:	n/a	n/a
9	ATF2	chr8:11416020-11416567	GM12878	blood:	n/a	n/a
10	ATF2	chr8:11446931-11447251	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr8:11416028-11417072	GM12878	blood:	n/a	n/a
12	ATF2	chr8:11418701-11418997	GM12878	blood:	n/a	n/a
13	ATF2	chr8:11396380-11397039	GM12878	blood:	n/a	n/a
14	ATF2	chr8:11402856-11404232	GM12878	blood:	n/a	n/a
15	ATF2	chr8:11394202-11396059	GM12878	blood:	n/a	n/a
16	ATF2	chr8:11446925-11447218	GM12878	blood:	n/a	n/a
17	ATF2	chr8:11402957-11404256	GM12878	blood:	n/a	n/a
18	BACH1	chr8:11446945-11447320	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr8:11421479-11422408	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr8:11422005-11422013	K562	blood:	n/a	n/a
21	BACH1	chr8:11463287-11463625	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr8:11411316-11411548	H1-hESC	embryonic stem cell:	n/a	n/a
23	BATF	chr8:11403094-11403686	GM12878	blood:	n/a	n/a
24	BATF	chr8:11416168-11416454	GM12878	blood:	n/a	n/a
25	BATF	chr8:11396541-11396828	GM12878	blood:	n/a	n/a
26	BATF	chr8:11403194-11403693	GM12878	blood:	n/a	n/a
27	BATF	chr8:11395253-11395756	GM12878	blood:	n/a	n/a
28	BATF	chr8:11403782-11404243	GM12878	blood:	n/a	n/a
29	BATF	chr8:11403808-11404213	GM12878	blood:	n/a	n/a
30	BCL11A	chr8:11403784-11404237	GM12878	blood:	n/a	n/a
31	BCL11A	chr8:11395105-11395737	GM12878	blood:	n/a	n/a
32	BCL11A	chr8:11403188-11403628	GM12878	blood:	n/a	chr8:11403287-11403296
33	BCL11A	chr8:11403087-11403748	GM12878	blood:	n/a	chr8:11403287-11403296
34	BCL11A	chr8:11416159-11416609	GM12878	blood:	n/a	n/a
35	BCL11A	chr8:11403843-11404135	GM12878	blood:	n/a	n/a
36	BCL3	chr8:11403089-11403697	GM12878	blood:	n/a	chr8:11403287-11403296
37	BCL3	chr8:11423267-11423719	GM12878	blood:	n/a	n/a
38	BCL3	chr8:11416115-11417171	GM12878	blood:	n/a	n/a
39	BCL3	chr8:11421867-11422432	GM12878	blood:	n/a	chr8:11422235-11422243
40	BCL3	chr8:11422664-11423817	GM12878	blood:	n/a	n/a
41	BCL3	chr8:11395141-11395868	GM12878	blood:	n/a	chr8:11395756-11395769
42	BCL3	chr8:11395245-11395778	GM12878	blood:	n/a	chr8:11395756-11395769
43	BCL3	chr8:11403124-11403747	GM12878	blood:	n/a	chr8:11403287-11403296
44	BCL3	chr8:11396535-11396917	GM12878	blood:	n/a	n/a
45	BCL3	chr8:11418521-11418953	GM12878	blood:	n/a	chr8:11418702-11418710
46	BCL3	chr8:11421891-11422340	A549	lung:	n/a	chr8:11422235-11422243
47	BCL3	chr8:11403839-11404194	GM12878	blood:	n/a	n/a
48	BCL3	chr8:11421305-11422586	GM12878	blood:	n/a	chr8:11422235-11422243
49	BCLAF1	chr8:11416733-11417157	GM12878	blood:	n/a	n/a
50	BCLAF1	chr8:11418072-11419043	GM12878	blood:	n/a	chr8:11418397-11418405 chr8:11418702-11418710

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11422730-11422780	BE2_C	brain:	n/a
2	chr8:11422730-11422780	BE2_C	brain:	n/a
3	chr8:11451041-11451091	H1-hESC	embryonic stem cell:	embryo
4	chr8:11421337-11421387	HIPEpiC	eye:	n/a
5	chr8:11451312-11451362	K562	blood:	n/a
6	chr8:11451194-11451244	HNPCEpiC	eye:	n/a
7	chr8:11421337-11421387	HL-60	blood:	n/a
8	chr8:11422730-11422780	A549	lung:	n/a
9	chr8:11402219-11402269	ovcar-3	ovarian:	n/a
10	chr8:11413186-11413236	GM12891	blood:	n/a
11	chr8:11413043-11413093	AG09309	skin:	n/a
12	chr8:11421934-11421984	SKMC	muscle:	n/a
13	chr8:11417517-11417567	BE2_C	brain:	n/a
14	chr8:11417517-11417567	BJ	skin:	n/a
15	chr8:11413043-11413093	PANC-1	pancreas:	n/a
16	chr8:11422167-11422217	LNCaP	prostate:	n/a
17	chr8:11421934-11421984	HNPCEpiC	eye:	n/a
18	chr8:11422433-11422483	HEK293	kidney:	embryo
19	chr8:11418058-11418108	H1-hESC	embryonic stem cell:	embryo
20	chr8:11424789-11424839	HEEpiC	esophagus:	n/a
21	chr8:11422433-11422483	A549	lung:	n/a
22	chr8:11421337-11421387	MCF-7	breast:	n/a
23	chr8:11451041-11451091	Caco-2	colon:	n/a
24	chr8:11451194-11451244	HRPEpiC	eye:	n/a
25	chr8:11402219-11402269	SK-N-MC	brain:	n/a
26	chr8:11402219-11402269	GM12891	blood:	n/a
27	chr8:11422730-11422780	HMEC	breast:	n/a
28	chr8:11422167-11422217	SKMC	muscle:	n/a
29	chr8:11417517-11417567	NHBE	bronchial:	n/a
30	chr8:11421337-11421387	HRCEpiC	kidney:	n/a
31	chr8:11417517-11417567	Caco-2	colon:	n/a
32	chr8:11417517-11417567	GM19239	blood:	n/a
33	chr8:11418058-11418108	AG09309	skin:	n/a
34	chr8:11416365-11416415	HL-60	blood:	n/a
35	chr8:11402219-11402269	AG04450	lung:	fetal
36	chr8:11421337-11421387	RPTEC	kidney:	n/a
37	chr8:11421337-11421387	IMR90	lung:	fetal
38	chr8:11422167-11422217	SAEC	small airway:	n/a
39	chr8:11451194-11451244	HUVEC	blood vessel:	n/a
40	chr8:11451041-11451091	Hela-S3	cervix:	n/a
41	chr8:11421337-11421387	SK-N-SH	brain:	n/a
42	chr8:11451041-11451091	NHBE	bronchial:	n/a
43	chr8:11451041-11451091	IMR90	lung:	fetal
44	chr8:11421934-11421984	BJ	skin:	n/a
45	chr8:11413043-11413093	MCF10A-Er-Src	breast:	n/a
46	chr8:11418058-11418108	U87	brain:	n/a
47	chr8:11422167-11422217	T-47D	breast:	n/a
48	chr8:11413043-11413093	NH-A	brain:	n/a
49	chr8:11422730-11422780	ECC-1	luminal epithelium:	n/a
50	chr8:11416365-11416415	AG04449	skin:	fetal

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:11421778..11422656-chr8:11816114..11817045,3	MCF-7	breast:
2	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
3	chr8:11422289..11424857-chr8:11598109..11600598,2	MCF-7	breast:
4	chr8:11421719..11422643-chr8:11446645..11447610,4	K562	blood:
5	chr8:11390853..11393388-chr8:11395895..11397560,2	K562	blood:
6	chr8:11424667..11425261-chr8:11603180..11604185,3	MCF-7	breast:
7	chr8:11424324..11425489-chr8:11573800..11574792,3	MCF-7	breast:
8	chr8:11411028..11411558-chr8:11446874..11447601,2	K562	blood:
9	chr8:11430263..11432062-chr8:11433287..11435276,2	K562	blood:
10	chr8:11432773..11433729-chr8:11587844..11588900,10	MCF-7	breast:
11	chr8:11424253..11424822-chr8:11800849..11801372,2	K562	blood:
12	chr8:11433178..11433693-chr8:11488566..11489368,2	MCF-7	breast:
13	chr8:11424139..11425217-chr8:11815416..11817027,6	K562	blood:
14	chr8:11448415..11450264-chr8:11463470..11466297,2	K562	blood:
15	chr8:11428917..11429796-chr8:11587902..11588451,3	MCF-7	breast:
16	chr8:11426984..11428613-chr8:11595138..11596810,2	K562	blood:
17	chr8:11379820..11382247-chr8:11420170..11422972,2	MCF-7	breast:
18	chr8:11444228..11446493-chr8:11461211..11463347,2	K562	blood:
19	chr8:11270794..11271511-chr8:11421638..11422402,4	MCF-7	breast:
20	chr8:11268286..11268904-chr8:11447156..11448012,2	K562	blood:
21	chr8:11459957..11462868-chr8:11472194..11474715,2	K562	blood:
22	chr8:11430194..11430977-chr8:11603626..11604340,2	MCF-7	breast:
23	chr8:11399538..11402795-chr8:11403672..11407842,3	K562	blood:
24	chr8:11409226..11411204-chr8:11413317..11416179,2	K562	blood:
25	chr8:11422187..11423813-chr8:11429710..11432078,2	MCF-7	breast:
26	chr8:11421707..11422824-chr8:11816126..11817083,9	K562	blood:
27	chr8:11420542..11422083-chr8:11608840..11610442,2	MCF-7	breast:
28	chr8:11394487..11397060-chr8:11401001..11403258,2	K562	blood:
29	chr8:11448479..11450712-chr8:11450788..11453218,2	K562	blood:
30	chr8:11421685..11422256-chr8:11800840..11801381,2	K562	blood:
31	chr8:11422237..11424811-chr8:11602615..11604781,2	MCF-7	breast:
32	chr8:11430122..11430693-chr8:11587796..11588653,2	MCF-7	breast:
33	chr8:11433477..11436325-chr8:11437296..11440162,3	MCF-7	breast:
34	chr8:11418474..11420140-chr8:11572245..11574135,2	K562	blood:
35	chr8:11429899..11432844-chr8:11444265..11445875,2	MCF-7	breast:
36	chr8:11444228..11446493-chr8:11461211..11463347,2	K562	blood:
37	chr8:11411028..11411558-chr8:11446874..11447601,2	K562	blood:
38	chr8:11421781..11422781-chr8:11603539..11604516,9	K562	blood:
39	chr8:11410226..11416148-chr8:11417699..11422629,5	K562	blood:
40	chr8:11421719..11422643-chr8:11446645..11447610,4	K562	blood:
41	chr8:11448415..11450264-chr8:11463470..11466297,2	K562	blood:
42	chr8:11331911..11334130-chr8:11408479..11410507,2	MCF-7	breast:
43	chr8:11429899..11432844-chr8:11444265..11445875,2	MCF-7	breast:
44	chr17:62223347..62226304-chr8:11454133..11456749,2	MCF-7	breast:
45	chr8:11462808..11463594-chr8:11587916..11588873,3	MCF-7	breast:
46	chr8:11429172..11431915-chr8:11433216..11435875,2	MCF-7	breast:
47	chr8:11446870..11447723-chr8:11603904..11604616,2	K562	blood:
48	chr8:11422187..11423813-chr8:11429710..11432078,2	MCF-7	breast:
49	chr8:11409226..11411204-chr8:11413317..11416179,2	K562	blood:
50	chr8:11286965..11287640-chr8:11410754..11411417,2	MCF-7	breast:

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-148O21.2.1-2	chr8:11415399-11415531	ENSG00000255518.1
2	lnc-RP11-148O21.2.1-1	chr8:11416421-11416495	ENSG00000255354.1
3	lnc-RP11-148O21.2.1-1	chr8:11415975-11416256	ENSG00000255354.1
4	lnc-BLK-1	chr8:11434044-11434826	NR_040035
5	lnc-RP11-148O21.2.1-1	chr8:11417293-11417529	ENSG00000255354.1
6	lnc-BLK-1	chr8:11437979-11438851	XLOC_006711
7	lnc-RP11-148O21.3.1-2	chr8:11409997-11410500	ENSG00000269954.1
8	lnc-RP11-148O21.3.1-1	chr8:11410733-11411089	ENSG00000254774.1
9	lnc-BLK-1	chr8:11437979-11438850	NR_040035
10	lnc-BLK-1	chr8:11434044-11434826	XLOC_006711
11	lnc-BLK-1	chr8:11435879-11436150	ENSG00000170983
12	lnc-RP11-148O21.3.1-1	chr8:11411639-11411716	ENSG00000254774.1
13	lnc-BLK-1	chr8:11437979-11438851	ENSG00000170983
14	lnc-RP11-148O21.2.1-2	chr8:11413760-11414170	ENSG00000255518.1
15	lnc-BLK-1	chr8:11433822-11434826	ENSG00000170983
16	lnc-BLK-1	chr8:11435879-11436150	XLOC_006711
17	lnc-BLK-1	chr8:11435879-11436150	NR_040035

No data

Variant related genes	Relation type
BLK	TF binding region
ENSG00000255354	TF binding region
ENSG00000255518	TF binding region
ENSG00000254774	TF binding region
LINC00208	TF binding region
ENSG00000269954	TF binding region
BLK	CpG island
ENSG00000255354	CpG island
ENSG00000255518	CpG island
ENSG00000254774	CpG island
LINC00208	CpG island
ENSG00000269954	CpG island
ENSG00000170983	chromatin interactions
ENSG00000254774	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000136573	chromatin interactions
ENSG00000269954	chromatin interactions
ENSG00000154319	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000255518	chromatin interactions

Extended variants
information (count: 4102 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:4102 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371696439	chr8:11394488-11394489	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574166884	chr8:11394498-11394499	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538363051	chr8:11394507-11394508	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556472515	chr8:11394549-11394550	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577967227	chr8:11394552-11394553	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148459722	chr8:11394553-11394554	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560617500	chr8:11394563-11394564	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538452223	chr8:11394564-11394565	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141714531	chr8:11394571-11394572	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542795025	chr8:11394572-11394573	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561159682	chr8:11394573-11394574	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538397881	chr8:11394585-11394586	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552054007	chr8:11394615-11394616	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs150590170	chr8:11394628-11394629	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550408447	chr8:11394648-11394649	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562466864	chr8:11394654-11394655	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs139665122	chr8:11394662-11394663	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1382565	chr8:11394727-11394728	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs79235412	chr8:11394732-11394733	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534117961	chr8:11394752-11394753	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185315491	chr8:11394767-11394768	Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567471938	chr8:11394800-11394801	Genic enhancers Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538301667	chr8:11394820-11394821	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149743366	chr8:11394829-11394830	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191008605	chr8:11394830-11394831	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117337573	chr8:11394836-11394837	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554170258	chr8:11394841-11394842	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553602673	chr8:11394847-11394848	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs572367492	chr8:11394855-11394856	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374194898	chr8:11394861-11394862	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs561100597	chr8:11394882-11394883	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573555315	chr8:11394897-11394898	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576241853	chr8:11394911-11394912	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs544037600	chr8:11394955-11394956	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147466815	chr8:11394959-11394960	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139852433	chr8:11395009-11395010	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544664098	chr8:11395012-11395013	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555999789	chr8:11395020-11395021	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577612972	chr8:11395031-11395032	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575972097	chr8:11395040-11395041	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549305665	chr8:11395049-11395050	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567606207	chr8:11395050-11395051	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111542672	chr8:11395068-11395069	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1478898	chr8:11395079-11395080	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs147683771	chr8:11395107-11395108	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369621755	chr8:11395120-11395121	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539137188	chr8:11395134-11395135	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574495420	chr8:11395140-11395141	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369379496	chr8:11395147-11395148	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs62489138	chr8:11395153-11395154	Enhancers Genic enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:142)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Gastric cancer	22315472	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:1112 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11383000-11407000	Weak transcription	Dnd41	blood
2	chr8:11391400-11395400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:11391800-11394800	Genic enhancers	Primary B cells from cord blood	blood
4	chr8:11392200-11395600	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr8:11392200-11397200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:11392400-11394800	Weak transcription	Fetal Thymus	thymus
7	chr8:11392400-11396800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:11392400-11397200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:11392400-11403400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:11394200-11395200	Flanking Active TSS	GM12878-XiMat	blood
11	chr8:11394800-11395200	Enhancers	Primary B cells from cord blood	blood
12	chr8:11394800-11396000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:11394800-11396400	Enhancers	Fetal Thymus	thymus
14	chr8:11395000-11395600	Enhancers	Liver	Liver
15	chr8:11395000-11395800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr8:11395000-11396400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:11395200-11395400	Enhancers	Fetal Kidney	kidney
18	chr8:11395200-11395600	Enhancers	GM12878-XiMat	blood
19	chr8:11395200-11395800	Bivalent Enhancer	Fetal Lung	lung
20	chr8:11395200-11397600	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr8:11395400-11395600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:11395400-11395800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:11395400-11395800	Enhancers	Lung	lung
24	chr8:11395600-11395800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:11395600-11395800	Active TSS	Spleen	Spleen
26	chr8:11395600-11396400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
27	chr8:11395600-11398000	Flanking Active TSS	GM12878-XiMat	blood
28	chr8:11395800-11396000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:11395800-11396200	Weak transcription	Spleen	Spleen
30	chr8:11396200-11396400	Enhancers	Spleen	Spleen
31	chr8:11396400-11396800	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr8:11396400-11400000	Weak transcription	Spleen	Spleen
33	chr8:11396600-11397600	Enhancers	Fetal Lung	lung
34	chr8:11396800-11397000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:11396800-11397400	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr8:11396800-11398800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:11397200-11397400	Enhancers	Primary hematopoietic stem cells	blood
38	chr8:11397200-11397800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:11397400-11398200	Genic enhancers	Primary B cells from peripheral blood	blood
40	chr8:11397600-11398000	Enhancers	Primary B cells from cord blood	blood
41	chr8:11397600-11401000	Weak transcription	Fetal Lung	lung
42	chr8:11398000-11398200	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr8:11398000-11399200	Enhancers	GM12878-XiMat	blood
44	chr8:11398200-11398600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr8:11398200-11400400	Enhancers	Primary B cells from cord blood	blood
46	chr8:11398600-11402600	Genic enhancers	Primary B cells from peripheral blood	blood
47	chr8:11399200-11399600	Weak transcription	GM12878-XiMat	blood
48	chr8:11399600-11400000	Genic enhancers	GM12878-XiMat	blood
49	chr8:11400000-11400400	Enhancers	Spleen	Spleen
50	chr8:11400000-11400400	Weak transcription	GM12878-XiMat	blood

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