Variant report

Variant	rs34880628
Chromosome Location	chr2:233614819-233614820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233609184..233612039-chr2:233613781..233615296,2	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1022330	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1044480	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933409	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933411	0.80[ASN][1000 genomes]
rs10933412	0.80[ASN][1000 genomes]
rs11555646	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676216	0.80[ASN][1000 genomes]
rs11679079	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687128	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11690474	0.82[EUR][1000 genomes]
rs11692545	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12472839	0.91[EUR][1000 genomes]
rs12474040	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478564	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694917	0.80[ASN][1000 genomes]
rs12987513	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12990821	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991088	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12997185	0.88[EUR][1000 genomes]
rs13003675	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13003738	0.81[ASN][1000 genomes]
rs13004406	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13007783	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13008942	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13011298	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013142	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021246	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024793	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13035829	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13424351	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1446308	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446310	0.91[ASN][1000 genomes]
rs1801251	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867778	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2012221	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2305141	0.91[ASN][1000 genomes]
rs2592105	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2592113	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2674839	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs283466	0.91[ASN][1000 genomes]
rs283468	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs283469	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs283471	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs283474	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs283475	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs283476	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs283477	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs283478	0.82[ASN][1000 genomes]
rs283479	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283480	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283481	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283484	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283485	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283486	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33980184	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35085837	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35212961	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35285732	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35362030	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35395584	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35621474	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36007169	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817311	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4452130	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4458205	0.85[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4517962	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4973053	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4973559	0.81[ASN][1000 genomes]
rs4973560	0.88[ASN][1000 genomes]
rs4973561	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs56777991	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66549961	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67013068	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714245	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6717841	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719061	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6724117	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6732136	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6733151	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738386	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6739638	0.87[AFR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6745879	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746294	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6747645	0.93[EUR][1000 genomes]
rs6748027	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6761324	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71421663	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs737028	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558609	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7562712	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7573208	0.89[ASN][1000 genomes]
rs7578299	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7591176	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7592717	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7606090	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs778166	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9653383	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9679089	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs983430	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.89[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	chr2:233589600-233619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:233589600-233627000	Weak transcription	Pancreas	Pancrea
10	chr2:233595000-233615600	Weak transcription	Spleen	Spleen
11	chr2:233597200-233627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:233602400-233616000	Weak transcription	Hela-S3	cervix
13	chr2:233602400-233621800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:233602400-233633200	Weak transcription	Aorta	Aorta
15	chr2:233602800-233615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:233603000-233621200	Weak transcription	Esophagus	oesophagus
17	chr2:233606200-233638400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:233606800-233633200	Weak transcription	Stomach Mucosa	stomach
19	chr2:233606800-233636800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:233609200-233630800	Strong transcription	HepG2	liver
21	chr2:233609400-233615400	Weak transcription	Lung	lung
22	chr2:233611000-233628600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:233611400-233618600	Strong transcription	HUVEC	blood vessel
24	chr2:233611400-233623800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:233611600-233623600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:233611600-233645600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:233611800-233617200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr2:233611800-233620600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:233611800-233622600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:233611800-233623000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:233612000-233616200	Strong transcription	Thymus	Thymus
32	chr2:233612000-233616400	Strong transcription	Fetal Intestine Large	intestine
33	chr2:233612000-233617000	Strong transcription	NHLF	lung
34	chr2:233612000-233617200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:233612000-233617200	Strong transcription	Primary hematopoietic stem cells	blood
36	chr2:233612000-233617200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:233612000-233617400	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:233612000-233617600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:233612000-233618400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:233612000-233618400	Strong transcription	Dnd41	blood
41	chr2:233612000-233618600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr2:233612000-233619200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:233612000-233621400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:233612000-233621600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:233612000-233621800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:233612000-233622400	Strong transcription	Primary B cells from cord blood	blood
47	chr2:233612000-233622400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr2:233612000-233623000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:233612000-233631000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:233612000-233634000	Strong transcription	Primary B cells from peripheral blood	blood

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