Variant report

Variant	rs2076186
Chromosome Location	chr6:11723542-11723543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:11722035..11725191-chr6:11730801..11735491,4	K562	blood:
2	chr6:11710372..11713269-chr6:11723329..11725416,2	K562	blood:
3	chr6:11717459..11719677-chr6:11722650..11725386,2	MCF-7	breast:
4	chr6:11723063..11725185-chr6:11732645..11735491,2	K562	blood:
5	chr6:11716333..11720276-chr6:11720959..11723559,3	K562	blood:
6	chr6:11677849..11680603-chr6:11722462..11724414,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12175671	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12175871	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529085	0.86[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2076185	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076187	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs210895	0.86[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs2235391	0.85[YRI][hapmap]
rs2235395	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs2235406	0.82[CHB][hapmap];0.82[CHD][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs2235410	0.82[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2235412	0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs2235415	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2235416	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs2235422	0.82[JPT][hapmap]
rs2235426	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2281127	0.82[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2294418	0.90[JPT][hapmap];1.00[YRI][hapmap]
rs2294420	0.90[ASN][1000 genomes]
rs2294426	0.82[YRI][hapmap]
rs3765254	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61439239	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936922	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs849013	0.86[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs9348960	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9366875	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368847	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9368869	0.85[YRI][hapmap]
rs9380473	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9380512	0.85[YRI][hapmap]
rs9380513	0.85[YRI][hapmap]
rs9394271	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9394301	0.85[YRI][hapmap]
rs9394302	0.85[YRI][hapmap]
rs9469930	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428470	chr6:11686198-11747850	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv462637	chr6:11710554-11733777	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv600990	chr6:11710554-11733777	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11710800-11731000	Weak transcription	Gastric	stomach
2	chr6:11711200-11731000	Weak transcription	Fetal Intestine Small	intestine
3	chr6:11711600-11731800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr6:11713400-11724600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:11713600-11727600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:11714600-11731600	Weak transcription	Small Intestine	intestine
7	chr6:11715200-11728000	Weak transcription	Fetal Thymus	thymus
8	chr6:11718400-11725400	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr6:11719400-11723600	Weak transcription	Primary T cells from cord blood	blood
10	chr6:11719400-11762200	Weak transcription	Colonic Mucosa	Colon
11	chr6:11719600-11732400	Weak transcription	NHEK	skin
12	chr6:11721400-11724400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:11722600-11724000	Flanking Active TSS	GM12878-XiMat	blood
14	chr6:11722600-11727000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:11722600-11728200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:11723000-11723600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr6:11723000-11723800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr6:11723000-11724000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr6:11723000-11724000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:11723000-11724600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:11723000-11725000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:11723200-11723600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:11723200-11723800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
24	chr6:11723200-11725000	Strong transcription	HSMMtube	muscle
25	chr6:11723200-11731600	Strong transcription	HSMM	muscle
26	chr6:11723200-11732400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:11723200-11738400	Weak transcription	HMEC	breast
28	chr6:11723400-11723600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr6:11723400-11723600	Enhancers	Left Ventricle	heart
30	chr6:11723400-11723800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr6:11723400-11723800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr6:11723400-11723800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:11723400-11723800	Strong transcription	Duodenum Mucosa	Duodenum

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