Variant report

Variant	rs2604526
Chromosome Location	chr11:102179761-102179762
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:102179726-102179861	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000271600	TF binding region
RNU6-952P	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10501998	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10501999	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11225201	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11225202	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11225203	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11600522	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11602147	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11606268	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12098902	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12280343	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12576911	0.90[ASN][1000 genomes]
rs12787745	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12789170	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12794196	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17763827	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17763887	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17769417	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17878708	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1894113	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1894114	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1894115	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2408344	0.88[ASN][1000 genomes]
rs2511293	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511295	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2604527	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2604533	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2846848	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2846849	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2846857	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2846858	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2852879	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2852880	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2852881	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2852882	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2852891	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3132831	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35612369	0.94[ASN][1000 genomes]
rs58277500	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61893629	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7480738	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7924744	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7928663	0.94[ASN][1000 genomes]
rs7931341	0.92[ASN][1000 genomes]
rs7938790	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9665961	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102173200-102182400	Weak transcription	Gastric	stomach
2	chr11:102173600-102183800	Weak transcription	Lung	lung
3	chr11:102175200-102179800	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:102176800-102187800	Weak transcription	Pancreas	Pancrea
5	chr11:102177000-102187800	Weak transcription	Spleen	Spleen
6	chr11:102177200-102187000	Weak transcription	Colonic Mucosa	Colon
7	chr11:102177600-102183400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:102177600-102183800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:102178000-102184000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:102178200-102179800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr11:102178200-102180600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:102178200-102180800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:102178200-102183000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:102178200-102183000	Weak transcription	HepG2	liver
15	chr11:102178200-102183200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:102178200-102183400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:102178200-102183400	Weak transcription	Fetal Lung	lung
18	chr11:102178200-102183600	Weak transcription	NH-A	brain
19	chr11:102178200-102183800	Weak transcription	Fetal Intestine Large	intestine
20	chr11:102178200-102183800	Weak transcription	Left Ventricle	heart
21	chr11:102178200-102183800	Weak transcription	Psoas Muscle	Psoas
22	chr11:102178200-102188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:102178400-102179800	Enhancers	Hela-S3	cervix
24	chr11:102178400-102180800	Enhancers	NHEK	skin
25	chr11:102178400-102182800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:102178400-102182800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:102178400-102183000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:102178400-102183200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:102178400-102183200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:102178400-102183400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:102178400-102183400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:102178400-102183600	Weak transcription	Placenta	Placenta
33	chr11:102178400-102183800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:102178400-102183800	Weak transcription	Stomach Mucosa	stomach
35	chr11:102178400-102187200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr11:102178400-102187800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:102178600-102183400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:102178600-102183800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:102178800-102183000	Weak transcription	HMEC	breast
40	chr11:102178800-102183200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:102179400-102179800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr11:102179400-102183000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:102179600-102180400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:102179600-102181400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:102179600-102181600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:102179600-102181600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:102179600-102181800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:102179600-102181800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr11:102179600-102181800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:102179600-102182000	Weak transcription	Primary B cells from cord blood	blood

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