Variant report

Variant	rs2363092
Chromosome Location	chr3:67629481-67629482
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1075642	1.00[EUR][1000 genomes]
rs13319718	1.00[EUR][1000 genomes]
rs2076900	1.00[EUR][1000 genomes]
rs2772455	0.94[ASN][1000 genomes]
rs2772457	0.94[ASN][1000 genomes]
rs3952242	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60697032	1.00[EUR][1000 genomes]
rs61390179	1.00[EUR][1000 genomes]
rs72929314	1.00[EUR][1000 genomes]
rs72929317	1.00[EUR][1000 genomes]
rs935733	1.00[EUR][1000 genomes]
rs9831152	1.00[EUR][1000 genomes]
rs9840770	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9851783	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9859371	1.00[EUR][1000 genomes]
rs9883114	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470638	chr3:67367341-67814738	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv460700	chr3:67393629-67712970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv590560	chr3:67393629-67712970	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv590561	chr3:67548852-67690626	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3359258	chr3:67589615-67828274	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67578200-67634600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:67579400-67633800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr3:67579400-67657600	Weak transcription	Pancreas	Pancrea
4	chr3:67582200-67637000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:67594000-67631000	Weak transcription	K562	blood
6	chr3:67595000-67639400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:67598000-67644200	Weak transcription	NHLF	lung
8	chr3:67601800-67673000	Weak transcription	Fetal Heart	heart
9	chr3:67602200-67644200	Weak transcription	Gastric	stomach
10	chr3:67602200-67654800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:67602200-67655400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:67602200-67656000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:67602400-67646200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:67602600-67635600	Weak transcription	Aorta	Aorta
15	chr3:67609200-67637000	Weak transcription	Ovary	ovary
16	chr3:67609400-67644000	Weak transcription	NHDF-Ad	bronchial
17	chr3:67612400-67697200	Weak transcription	Hela-S3	cervix
18	chr3:67614000-67658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:67616600-67644200	Weak transcription	HSMM	muscle
20	chr3:67618600-67655600	Weak transcription	NH-A	brain
21	chr3:67620400-67639800	Weak transcription	Small Intestine	intestine
22	chr3:67621000-67637200	Weak transcription	HepG2	liver
23	chr3:67621200-67644200	Weak transcription	Esophagus	oesophagus
24	chr3:67621200-67657600	Weak transcription	Fetal Stomach	stomach
25	chr3:67621400-67640000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:67621400-67650400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:67621600-67634000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr3:67621800-67634600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:67621800-67639400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr3:67621800-67640600	Weak transcription	Placenta	Placenta
31	chr3:67621800-67644000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:67621800-67658000	Weak transcription	Thymus	Thymus
33	chr3:67622000-67635600	Weak transcription	GM12878-XiMat	blood
34	chr3:67622000-67640800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr3:67622000-67641400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr3:67622000-67648800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:67622200-67657400	Weak transcription	Brain Substantia Nigra	brain
38	chr3:67622400-67635800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:67622400-67637000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:67622400-67647800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:67622600-67635400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:67622600-67644400	Weak transcription	HMEC	breast
43	chr3:67622800-67634200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr3:67622800-67644000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:67623200-67632800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr3:67623200-67636600	Weak transcription	A549	lung
47	chr3:67623400-67631600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr3:67623400-67633800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr3:67623400-67650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:67624200-67631000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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