Variant report

Variant	rs2280338
Chromosome Location	chr2:7167589-7167590
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:7137807..7140160-chr2:7167317..7168870,2	K562	blood:
2	chr2:7162976..7165040-chr2:7166130..7169066,2	MCF-7	breast:
3	chr2:7158554..7160902-chr2:7167034..7169770,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1023850	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1023851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1023852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12468736	0.90[ASN][1000 genomes]
rs12476605	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12476611	0.90[ASN][1000 genomes]
rs12476778	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12477577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13034571	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16865853	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16865867	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2280337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34060256	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34349013	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34719558	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35431985	0.90[ASN][1000 genomes]
rs3732330	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3755499	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3771955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3771962	0.81[CEU][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3771964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3771970	0.90[ASN][1000 genomes]
rs59522788	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62105654	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6707249	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6709878	0.95[JPT][hapmap]
rs6720046	0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap];0.90[ASN][1000 genomes]
rs6722170	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs771254	1.00[CEU][hapmap]
rs771269	1.00[CEU][hapmap]
rs771270	1.00[CEU][hapmap]
rs921620	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921621	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9917219	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs996508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526590	chr2:7166507-7167589	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv963143	chr2:7167397-7170250	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7131000-7167600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:7148200-7172600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:7148800-7171400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:7151200-7185200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:7152600-7192400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:7154000-7183200	Strong transcription	Primary T cells from cord blood	blood
7	chr2:7154000-7190200	Strong transcription	Dnd41	blood
8	chr2:7154600-7174800	Weak transcription	Primary B cells from cord blood	blood
9	chr2:7154600-7184200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:7155000-7171400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:7155200-7182000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:7155600-7178800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:7156000-7168800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:7157000-7177600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:7157000-7179200	Weak transcription	Aorta	Aorta
16	chr2:7157200-7169000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:7157200-7185200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:7158000-7168400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr2:7158200-7173200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:7158200-7188800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:7158400-7173000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:7158400-7186800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:7158600-7173400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:7159000-7181000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:7159400-7186800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:7159600-7180600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:7160800-7169200	Weak transcription	Placenta	Placenta
28	chr2:7162000-7168400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:7162000-7171600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:7162400-7169800	Weak transcription	Esophagus	oesophagus
31	chr2:7162800-7171400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:7163000-7171000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:7163000-7171400	Weak transcription	Stomach Mucosa	stomach
34	chr2:7163200-7177400	Weak transcription	Fetal Brain Male	brain
35	chr2:7164000-7171200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:7164000-7171600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:7164000-7177600	Weak transcription	NHDF-Ad	bronchial
38	chr2:7164000-7178000	Weak transcription	K562	blood
39	chr2:7164200-7168800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:7164600-7167800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:7164600-7171200	Weak transcription	Fetal Intestine Large	intestine
42	chr2:7164600-7182200	Weak transcription	Small Intestine	intestine
43	chr2:7164800-7189000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:7165000-7167800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:7165000-7167800	Genic enhancers	Fetal Kidney	kidney
46	chr2:7165000-7169200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:7165200-7171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:7165400-7168200	Weak transcription	Brain Anterior Caudate	brain
49	chr2:7165400-7168200	Weak transcription	Fetal Intestine Small	intestine
50	chr2:7165400-7168400	Weak transcription	Right Ventricle	heart

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