Variant report

Variant	rs610988
Chromosome Location	chr3:101514162-101514163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16844120	0.85[EUR][1000 genomes]
rs34103639	0.85[EUR][1000 genomes]
rs34508490	0.83[EUR][1000 genomes]
rs35102530	0.85[EUR][1000 genomes]
rs6791241	0.83[EUR][1000 genomes]
rs71315249	0.85[EUR][1000 genomes]
rs7632449	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv3351469	chr3:101511702-101866448	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101498800-101519000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:101498800-101533800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:101498800-101546200	Weak transcription	Esophagus	oesophagus
4	chr3:101499000-101523000	Weak transcription	Stomach Mucosa	stomach
5	chr3:101499000-101533000	Weak transcription	Fetal Intestine Large	intestine
6	chr3:101499200-101529600	Weak transcription	Small Intestine	intestine
7	chr3:101499800-101524800	Weak transcription	HepG2	liver
8	chr3:101501200-101516200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:101501600-101515000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:101502200-101516000	Strong transcription	A549	lung
11	chr3:101502600-101540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:101502600-101540200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:101502800-101528200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:101503200-101522400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:101504600-101514800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:101504600-101520200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:101504600-101524400	Weak transcription	Gastric	stomach
18	chr3:101504800-101515800	Strong transcription	Fetal Thymus	thymus
19	chr3:101504800-101533600	Weak transcription	Pancreas	Pancrea
20	chr3:101504800-101546000	Weak transcription	Colonic Mucosa	Colon
21	chr3:101505000-101517400	Weak transcription	Fetal Heart	heart
22	chr3:101505000-101520000	Weak transcription	Right Ventricle	heart
23	chr3:101505200-101514800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:101505400-101514600	Weak transcription	Spleen	Spleen
25	chr3:101505400-101533600	Weak transcription	Right Atrium	heart
26	chr3:101505600-101514800	Weak transcription	Adipose Nuclei	Adipose
27	chr3:101505800-101515600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:101506400-101514600	Weak transcription	HUVEC	blood vessel
29	chr3:101506400-101514800	Weak transcription	Lung	lung
30	chr3:101507000-101514600	Weak transcription	HMEC	breast
31	chr3:101508000-101515400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:101508200-101516200	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr3:101508600-101514800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:101508600-101516200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr3:101509200-101514800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:101509800-101514800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:101509800-101520000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:101509800-101528200	Weak transcription	Fetal Intestine Small	intestine
39	chr3:101510000-101522400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr3:101510200-101514600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr3:101510200-101522400	Weak transcription	Fetal Brain Male	brain
42	chr3:101510200-101525600	Weak transcription	Placenta	Placenta
43	chr3:101510400-101514800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:101510600-101514800	Weak transcription	Aorta	Aorta
45	chr3:101510800-101514600	Weak transcription	Left Ventricle	heart
46	chr3:101510800-101514800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:101511000-101514600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:101511000-101514800	Weak transcription	NHEK	skin
49	chr3:101511000-101518600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:101511000-101521800	Weak transcription	Fetal Kidney	kidney

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