Variant report

Variant	rs11604437
Chromosome Location	chr11:104914586-104914587
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1699089	0.85[YRI][hapmap]
rs3181174	1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs45483194	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45524138	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45581634	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs483345	0.82[LWK][hapmap];0.85[YRI][hapmap]
rs492366	0.85[YRI][hapmap]
rs504054	1.00[YRI][hapmap]
rs505901	1.00[YRI][hapmap]
rs507438	0.82[YRI][hapmap]
rs507509	0.82[LWK][hapmap];0.85[YRI][hapmap]
rs516286	0.85[YRI][hapmap]
rs518878	0.82[YRI][hapmap]
rs519047	0.85[YRI][hapmap]
rs534811	0.82[LWK][hapmap];0.85[YRI][hapmap]
rs554344	0.81[LWK][hapmap];0.85[YRI][hapmap]
rs55768924	0.96[EUR][1000 genomes]
rs557905	0.85[YRI][hapmap]
rs55851817	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56046641	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs560880	0.85[YRI][hapmap]
rs572687	1.00[LWK][hapmap];1.00[YRI][hapmap]
rs580253	0.85[YRI][hapmap]
rs7934239	0.87[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
4	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
5	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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	13 gene(s)	inside rSNPs	diseases
7	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv468863	chr11:104875261-104918517	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
9	nsv556219	chr11:104875261-104918517	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	esv2757475	chr11:104895876-104979717	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2759863	chr11:104895876-104979717	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3419177	chr11:104905032-104915298	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11604437	COP1	cis	multi-tissue	Pritchard

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104906000-104914600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:104906600-104915600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:104910200-104915800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:104912200-104915600	Weak transcription	Placenta	Placenta
5	chr11:104912400-104915800	Weak transcription	HepG2	liver
6	chr11:104912600-104917800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:104912600-104920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:104912800-104914800	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr11:104913000-104915000	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr11:104913000-104916200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:104913600-104914800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:104913600-104915200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr11:104913600-104915600	Flanking Active TSS	Dnd41	blood
14	chr11:104913600-104916200	Active TSS	Hela-S3	cervix
15	chr11:104913600-104916400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:104913600-104916600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:104913800-104914600	Flanking Active TSS	Primary B cells from peripheral blood	blood
18	chr11:104913800-104914600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr11:104913800-104914600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:104913800-104914600	Enhancers	Gastric	stomach
21	chr11:104913800-104914600	Flanking Active TSS	NHLF	lung
22	chr11:104913800-104915000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr11:104913800-104915200	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr11:104913800-104915600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr11:104913800-104916000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:104913800-104916200	Active TSS	Primary T cells fromperipheralblood	blood
27	chr11:104914000-104914600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:104914000-104914800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr11:104914000-104916200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr11:104914000-104916600	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:104914200-104914600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr11:104914200-104914600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:104914200-104914600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr11:104914200-104914600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr11:104914200-104914600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr11:104914200-104914600	Active TSS	Fetal Intestine Large	intestine
37	chr11:104914200-104914600	Flanking Active TSS	Right Atrium	heart
38	chr11:104914200-104914600	Enhancers	Spleen	Spleen
39	chr11:104914200-104914800	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr11:104914200-104914800	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr11:104914200-104914800	Enhancers	Small Intestine	intestine
42	chr11:104914200-104914800	Enhancers	Stomach Mucosa	stomach
43	chr11:104914200-104915200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr11:104914200-104915600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:104914200-104915800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr11:104914200-104916000	Active TSS	Lung	lung
47	chr11:104914200-104916000	Active TSS	Right Ventricle	heart
48	chr11:104914200-104916000	Active TSS	GM12878-XiMat	blood
49	chr11:104914200-104916200	Active TSS	Colonic Mucosa	Colon
50	chr11:104914200-104916400	Active TSS	Ovary	ovary

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