Variant report

Variant	rs6721467
Chromosome Location	chr2:98608970-98608971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98450761..98453323-chr2:98606323..98609073,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10167772	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10168709	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10169155	0.80[ASN][1000 genomes]
rs10175129	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10176826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180434	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10180837	0.86[ASN][1000 genomes]
rs10183768	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10184393	0.81[ASN][1000 genomes]
rs10184457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184552	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188713	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap]
rs10189414	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10191101	0.85[CHB][hapmap]
rs10192322	0.86[ASN][1000 genomes]
rs10206684	0.81[EUR][1000 genomes]
rs10208070	0.83[EUR][1000 genomes]
rs10209970	0.85[CHB][hapmap]
rs10210299	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210880	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1024086	0.85[CHB][hapmap]
rs11893437	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11894541	0.80[EUR][1000 genomes]
rs11895170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12712147	0.86[ASN][1000 genomes]
rs12712163	0.80[EUR][1000 genomes]
rs12712172	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12992955	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13000585	0.81[EUR][1000 genomes]
rs13008678	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13008904	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13009300	1.00[ASN][1000 genomes]
rs13012645	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13387725	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13404788	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13427422	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1503202	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1960329	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap]
rs2293679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs35402416	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35807655	0.81[EUR][1000 genomes]
rs35940587	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36079497	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55817781	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6707750	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6712078	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs6713504	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718982	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6751727	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6756969	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7557495	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7578638	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7588227	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7591374	0.89[ASN][1000 genomes]
rs7594928	0.81[EUR][1000 genomes]
rs7599043	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7605288	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9784011	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9808558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98596000-98609400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:98597000-98609800	Weak transcription	Fetal Stomach	stomach
3	chr2:98598600-98610400	Weak transcription	Placenta	Placenta
4	chr2:98600200-98609400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:98600200-98611600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:98600400-98609800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:98600400-98610200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:98601000-98609200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:98601200-98609400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:98603000-98610000	Enhancers	Primary B cells from peripheral blood	blood
11	chr2:98603400-98609200	Weak transcription	Fetal Intestine Small	intestine
12	chr2:98603400-98610000	Weak transcription	Ovary	ovary
13	chr2:98605200-98609800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:98605400-98609800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:98605600-98609800	Enhancers	Primary B cells from cord blood	blood
16	chr2:98605600-98609800	Weak transcription	NHLF	lung
17	chr2:98606200-98609800	Enhancers	HepG2	liver
18	chr2:98606200-98610400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:98606200-98611200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr2:98606200-98611200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:98606400-98609400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:98606400-98609800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:98606400-98611000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:98606600-98609400	Weak transcription	NHDF-Ad	bronchial
25	chr2:98606600-98609800	Weak transcription	K562	blood
26	chr2:98606600-98610000	Weak transcription	Colonic Mucosa	Colon
27	chr2:98606800-98609400	Weak transcription	Fetal Heart	heart
28	chr2:98606800-98609800	Weak transcription	Thymus	Thymus
29	chr2:98607600-98609200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:98607600-98609400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:98607600-98609400	Enhancers	NHEK	skin
32	chr2:98607600-98609800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:98607600-98610000	Enhancers	Dnd41	blood
34	chr2:98607600-98610400	Enhancers	Liver	Liver
35	chr2:98607800-98609400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:98607800-98609800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:98607800-98610400	Enhancers	Fetal Lung	lung
38	chr2:98607800-98610400	Enhancers	Stomach Mucosa	stomach
39	chr2:98608000-98609400	Weak transcription	Brain Substantia Nigra	brain
40	chr2:98608000-98609400	Weak transcription	Fetal Brain Male	brain
41	chr2:98608000-98609600	Weak transcription	Brain Anterior Caudate	brain
42	chr2:98608000-98610000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:98608000-98610000	Enhancers	Primary T cells from cord blood	blood
44	chr2:98608000-98610400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:98608200-98609400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:98608200-98609400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:98608200-98609600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:98608200-98609600	Weak transcription	A549	lung
49	chr2:98608200-98609800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:98608200-98609800	Weak transcription	Aorta	Aorta

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