Variant report

Variant	rs13389859
Chromosome Location	chr2:171948875-171948876
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	chr2:171937726..171940100-chr2:171948852..171951754,2	K562	blood:
2	chr2:171936657..171938320-chr2:171948737..171950412,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10173931	0.92[EUR][1000 genomes]
rs1035839	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap]
rs10490606	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs13017649	1.00[CEU][hapmap]
rs16823191	1.00[GIH][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap]
rs16859087	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16859121	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs16859167	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16859176	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16859177	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs1863679	0.91[CEU][hapmap];0.94[TSI][hapmap]
rs2059723	0.91[CEU][hapmap]
rs2162574	0.80[CEU][hapmap]
rs2356600	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2356609	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676143	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap]
rs2676145	1.00[CEU][hapmap]
rs2723245	0.92[EUR][1000 genomes]
rs2723248	0.91[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2723250	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2723253	1.00[CEU][hapmap]
rs2883940	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs4668342	0.80[CEU][hapmap]
rs4668356	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap]
rs55644524	0.98[EUR][1000 genomes]
rs55885449	0.96[EUR][1000 genomes]
rs55939429	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55995602	0.98[EUR][1000 genomes]
rs55997598	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56004444	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56134465	0.86[EUR][1000 genomes]
rs56155163	1.00[EUR][1000 genomes]
rs56155601	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56191582	0.90[EUR][1000 genomes]
rs56308745	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56382502	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56934523	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57733560	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58028937	0.81[EUR][1000 genomes]
rs58685348	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59841744	1.00[EUR][1000 genomes]
rs60396936	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60730419	0.84[EUR][1000 genomes]
rs6711423	0.88[EUR][1000 genomes]
rs6722196	0.92[EUR][1000 genomes]
rs6736045	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6746133	0.96[EUR][1000 genomes]
rs6750585	0.90[EUR][1000 genomes]
rs6753513	1.00[CEU][hapmap]
rs73013435	1.00[EUR][1000 genomes]
rs73013436	1.00[EUR][1000 genomes]
rs73013439	1.00[EUR][1000 genomes]
rs73013453	1.00[EUR][1000 genomes]
rs73013465	0.88[EUR][1000 genomes]
rs73017249	0.84[EUR][1000 genomes]
rs73027220	0.92[EUR][1000 genomes]
rs73029214	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73976125	0.88[EUR][1000 genomes]
rs73976285	1.00[EUR][1000 genomes]
rs7591214	1.00[EUR][1000 genomes]
rs7608813	1.00[CEU][hapmap]
rs9752051	1.00[CEU][hapmap];0.84[EUR][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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171900400-171975400	Weak transcription	Aorta	Aorta
2	chr2:171916600-171950200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:171916600-171970800	Weak transcription	Ovary	ovary
4	chr2:171917000-171953200	Weak transcription	HSMM	muscle
5	chr2:171917000-171956600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:171917000-172000800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:171929600-171956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:171931200-171950200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:171933200-171954000	Weak transcription	Fetal Stomach	stomach
10	chr2:171933200-171954200	Weak transcription	Esophagus	oesophagus
11	chr2:171933200-171981000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:171933800-171953200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:171934000-171955800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:171937400-171951200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:171937600-171953600	Weak transcription	Fetal Intestine Small	intestine
16	chr2:171937600-171956800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:171938400-171953400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:171938400-171953600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:171939200-171950400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:171941000-171954200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:171941200-171954400	Weak transcription	NHEK	skin
22	chr2:171941800-171950200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:171943400-171949800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:171943400-171959600	Weak transcription	Left Ventricle	heart
25	chr2:171943400-171973800	Weak transcription	NH-A	brain
26	chr2:171943600-171954200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:171943600-171954400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:171943600-171956200	Weak transcription	Placenta	Placenta
29	chr2:171943800-171949400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:171943800-171950000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:171943800-171951400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:171943800-171951800	Weak transcription	A549	lung
33	chr2:171943800-171953400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:171944000-171953400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:171944000-171955000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:171944000-171955400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:171944200-171951600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:171944400-171950000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:171944600-171952400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:171944600-171954600	Weak transcription	K562	blood
41	chr2:171944800-171956600	Weak transcription	Thymus	Thymus
42	chr2:171944800-171977400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:171945000-171949200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:171945000-171951600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr2:171945200-171949800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:171945600-171950200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr2:171945600-171951800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr2:171945800-171949200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:171945800-171952000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:171946000-171952000	Weak transcription	Primary T cells from cord blood	blood

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