Variant report

Variant	rs7578638
Chromosome Location	chr2:98610113-98610114
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10166513	0.94[ASN][1000 genomes]
rs10167772	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10168543	0.88[ASN][1000 genomes]
rs10168709	0.85[EUR][1000 genomes]
rs10175129	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10176826	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10180434	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10183768	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10184457	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10184552	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10188497	0.88[ASN][1000 genomes]
rs10188713	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];0.88[ASN][1000 genomes]
rs10189414	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10191101	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10202138	0.94[ASN][1000 genomes]
rs10206684	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10208070	0.82[EUR][1000 genomes]
rs10209970	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10210299	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10210520	0.88[ASN][1000 genomes]
rs10210880	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1024086	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11886417	1.00[ASN][1000 genomes]
rs11893437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11894541	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11894895	0.88[ASN][1000 genomes]
rs11895170	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11897301	0.88[ASN][1000 genomes]
rs12712117	0.88[ASN][1000 genomes]
rs12712120	0.88[ASN][1000 genomes]
rs12712162	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12712163	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12712172	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12992955	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13000585	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13008678	0.83[EUR][1000 genomes]
rs13008904	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13010004	0.88[ASN][1000 genomes]
rs13012645	0.81[EUR][1000 genomes]
rs13387725	0.85[EUR][1000 genomes]
rs13404788	0.82[EUR][1000 genomes]
rs13427422	0.82[EUR][1000 genomes]
rs1446327	0.88[ASN][1000 genomes]
rs1503202	0.85[EUR][1000 genomes]
rs1960329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs1982336	0.88[ASN][1000 genomes]
rs2121271	0.88[ASN][1000 genomes]
rs2293679	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap]
rs34190123	0.94[ASN][1000 genomes]
rs34414288	0.88[ASN][1000 genomes]
rs34469351	0.97[ASN][1000 genomes]
rs35185431	0.88[ASN][1000 genomes]
rs35203092	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35402416	0.81[EUR][1000 genomes]
rs35776557	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35807655	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35940587	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36079497	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821053	0.88[ASN][1000 genomes]
rs55753459	0.94[ASN][1000 genomes]
rs55817781	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6543111	0.85[ASN][1000 genomes]
rs6707719	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs6707750	0.82[EUR][1000 genomes]
rs6712078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6713504	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6718982	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721323	0.82[ASN][1000 genomes]
rs6721467	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6728312	0.88[ASN][1000 genomes]
rs6738401	0.94[ASN][1000 genomes]
rs6751727	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6755021	0.94[ASN][1000 genomes]
rs6756969	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760008	0.88[ASN][1000 genomes]
rs68115667	1.00[ASN][1000 genomes]
rs71429373	0.94[ASN][1000 genomes]
rs718159	0.88[ASN][1000 genomes]
rs7557495	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7570009	0.88[ASN][1000 genomes]
rs7582298	0.94[ASN][1000 genomes]
rs7588227	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593290	0.88[ASN][1000 genomes]
rs7594928	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7595039	0.88[ASN][1000 genomes]
rs7599043	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7605288	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9784011	0.85[EUR][1000 genomes]
rs9808558	1.00[CEU][hapmap];0.85[CHB][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs9973490	0.85[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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98598600-98610400	Weak transcription	Placenta	Placenta
2	chr2:98600200-98611600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:98600400-98610200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:98606200-98610400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:98606200-98611200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr2:98606200-98611200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:98606400-98611000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:98607600-98610400	Enhancers	Liver	Liver
9	chr2:98607800-98610400	Enhancers	Fetal Lung	lung
10	chr2:98607800-98610400	Enhancers	Stomach Mucosa	stomach
11	chr2:98608000-98610400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:98608200-98610400	Weak transcription	Gastric	stomach
13	chr2:98608200-98610400	Weak transcription	Left Ventricle	heart
14	chr2:98608200-98610400	Weak transcription	Pancreas	Pancrea
15	chr2:98608200-98611400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:98608200-98611400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:98608200-98611400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:98608200-98611400	Weak transcription	Lung	lung
19	chr2:98608200-98611600	Weak transcription	Spleen	Spleen
20	chr2:98608400-98610200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:98608400-98610800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:98608400-98611000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr2:98608600-98612800	Active TSS	GM12878-XiMat	blood
24	chr2:98609200-98610400	Enhancers	Small Intestine	intestine
25	chr2:98609200-98610600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:98609200-98613400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:98609400-98610200	Flanking Active TSS	HMEC	breast
28	chr2:98609400-98610200	Enhancers	HSMM	muscle
29	chr2:98609400-98610400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr2:98609400-98610400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:98609400-98610400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:98609400-98610400	Enhancers	Brain Angular Gyrus	brain
33	chr2:98609400-98610400	Enhancers	Colon Smooth Muscle	Colon
34	chr2:98609400-98610400	Enhancers	Fetal Brain Male	brain
35	chr2:98609400-98610600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr2:98609400-98610600	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr2:98609400-98610800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr2:98609400-98610800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr2:98609400-98610800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr2:98609400-98610800	Enhancers	Fetal Heart	heart
41	chr2:98609400-98610800	Flanking Active TSS	NHDF-Ad	bronchial
42	chr2:98609400-98611000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:98609400-98611000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr2:98609400-98611000	Flanking Active TSS	NHEK	skin
45	chr2:98609400-98611400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:98609400-98613000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:98609400-98613200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:98609600-98610200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr2:98609600-98610200	Flanking Active TSS	HSMMtube	muscle
50	chr2:98609600-98610400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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