Variant report

Variant	rs11685169
Chromosome Location	chr2:233613183-233613184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233603140..233605139-chr2:233611874..233614371,3	MCF-7	breast:
2	chr2:233611281..233613594-chr2:233618570..233621008,2	MCF-7	breast:
3	chr2:233591305..233594002-chr2:233611275..233613408,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10176930	0.81[ASN][1000 genomes]
rs10190211	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10207739	0.84[ASN][1000 genomes]
rs10209575	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10933407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679581	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11684636	0.84[ASN][1000 genomes]
rs11687379	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11688622	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11688691	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11689661	0.84[ASN][1000 genomes]
rs11694434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11695762	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12052869	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12694915	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12694916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12988087	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13386650	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13396293	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13401578	0.90[ASN][1000 genomes]
rs13408229	0.84[ASN][1000 genomes]
rs13412034	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13412513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13425525	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13429857	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1446307	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289914	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2289915	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2293782	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2305139	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28491817	0.80[EUR][1000 genomes]
rs34063802	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34832091	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35778045	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35785837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35928329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41266951	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56054779	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62193305	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6747479	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73005582	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7557131	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7564554	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9288675	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9288676	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808146	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9973586	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233565600-233641000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:233569200-233615000	Weak transcription	Colonic Mucosa	Colon
3	chr2:233569400-233615400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:233571200-233627400	Weak transcription	Gastric	stomach
5	chr2:233585200-233655000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:233585800-233626000	Weak transcription	Fetal Heart	heart
7	chr2:233587000-233630600	Weak transcription	Psoas Muscle	Psoas
8	chr2:233587200-233613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:233589600-233619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:233589600-233627000	Weak transcription	Pancreas	Pancrea
11	chr2:233595000-233615600	Weak transcription	Spleen	Spleen
12	chr2:233597200-233627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:233599600-233613400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:233600000-233613800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:233600600-233613400	Weak transcription	Brain Angular Gyrus	brain
16	chr2:233602200-233613800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:233602400-233613600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:233602400-233616000	Weak transcription	Hela-S3	cervix
19	chr2:233602400-233621800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:233602400-233633200	Weak transcription	Aorta	Aorta
21	chr2:233602600-233613800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:233602800-233615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:233603000-233621200	Weak transcription	Esophagus	oesophagus
24	chr2:233605000-233613200	Weak transcription	Fetal Stomach	stomach
25	chr2:233606200-233638400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:233606800-233633200	Weak transcription	Stomach Mucosa	stomach
27	chr2:233606800-233636800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:233609200-233630800	Strong transcription	HepG2	liver
29	chr2:233609400-233615400	Weak transcription	Lung	lung
30	chr2:233610200-233614600	Weak transcription	Fetal Intestine Small	intestine
31	chr2:233611000-233628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:233611400-233618600	Strong transcription	HUVEC	blood vessel
33	chr2:233611400-233623800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:233611600-233623600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:233611800-233614600	Strong transcription	NHDF-Ad	bronchial
37	chr2:233611800-233617200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr2:233611800-233620600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:233611800-233622600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:233611800-233623000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:233612000-233614400	Strong transcription	HSMM	muscle
42	chr2:233612000-233614600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:233612000-233614600	Genic enhancers	GM12878-XiMat	blood
44	chr2:233612000-233616200	Strong transcription	Thymus	Thymus
45	chr2:233612000-233616400	Strong transcription	Fetal Intestine Large	intestine
46	chr2:233612000-233617000	Strong transcription	NHLF	lung
47	chr2:233612000-233617200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:233612000-233617200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr2:233612000-233617200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:233612000-233617400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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