Variant report

Variant	rs7601190
Chromosome Location	chr2:231077911-231077912
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10168052	0.83[EUR][1000 genomes]
rs10177277	0.83[EUR][1000 genomes]
rs10755048	0.83[EUR][1000 genomes]
rs10755049	0.83[EUR][1000 genomes]
rs10755050	0.83[EUR][1000 genomes]
rs10804364	0.83[EUR][1000 genomes]
rs10933328	0.83[EUR][1000 genomes]
rs12474616	0.83[EUR][1000 genomes]
rs12474683	0.84[EUR][1000 genomes]
rs12616762	0.83[EUR][1000 genomes]
rs12619729	0.82[EUR][1000 genomes]
rs12619732	0.83[EUR][1000 genomes]
rs1469345	0.84[EUR][1000 genomes]
rs1896258	0.83[EUR][1000 genomes]
rs1896259	0.83[EUR][1000 genomes]
rs1978583	0.83[EUR][1000 genomes]
rs2081714	0.83[EUR][1000 genomes]
rs2396709	0.83[EUR][1000 genomes]
rs2396711	0.83[EUR][1000 genomes]
rs3769837	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4327229	0.83[EUR][1000 genomes]
rs4327230	0.83[EUR][1000 genomes]
rs4972942	0.83[EUR][1000 genomes]
rs4973285	0.83[EUR][1000 genomes]
rs4973286	0.83[EUR][1000 genomes]
rs4973287	0.83[EUR][1000 genomes]
rs4973288	0.83[EUR][1000 genomes]
rs4973289	0.83[EUR][1000 genomes]
rs4973290	0.83[EUR][1000 genomes]
rs4973291	0.82[EUR][1000 genomes]
rs4973292	0.81[EUR][1000 genomes]
rs4973293	0.83[EUR][1000 genomes]
rs4973294	0.83[EUR][1000 genomes]
rs4973296	0.84[EUR][1000 genomes]
rs4973297	0.84[EUR][1000 genomes]
rs4973298	0.84[EUR][1000 genomes]
rs6436919	0.82[EUR][1000 genomes]
rs6735604	0.84[EUR][1000 genomes]
rs6743028	0.83[EUR][1000 genomes]
rs6750748	0.83[EUR][1000 genomes]
rs6752361	0.83[EUR][1000 genomes]
rs6755998	0.84[EUR][1000 genomes]
rs7561924	0.84[EUR][1000 genomes]
rs7583769	0.84[EUR][1000 genomes]
rs7592927	0.83[EUR][1000 genomes]
rs7601299	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7603350	0.83[EUR][1000 genomes]
rs930031	0.84[EUR][1000 genomes]
rs930032	0.84[EUR][1000 genomes]
rs958978	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv869834	chr2:231045013-231139827	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv998291	chr2:231045388-231136278	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv584666	chr2:231050715-231106621	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231059000-231082800	Weak transcription	Stomach Mucosa	stomach
2	chr2:231062200-231081600	Strong transcription	Liver	Liver
3	chr2:231062400-231081600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:231062600-231079200	Strong transcription	Stomach Smooth Muscle	stomach
5	chr2:231062600-231080600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:231062600-231081400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:231062600-231081400	Strong transcription	Adipose Nuclei	Adipose
8	chr2:231062600-231081400	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:231062600-231081400	Strong transcription	Fetal Thymus	thymus
10	chr2:231062600-231081600	Strong transcription	Fetal Lung	lung
11	chr2:231062600-231081600	Strong transcription	Placenta	Placenta
12	chr2:231062600-231081600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr2:231062600-231081600	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:231062600-231081800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr2:231062600-231082200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:231062600-231082400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:231062600-231084200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:231062800-231080600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr2:231062800-231081000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:231063000-231080200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:231063000-231084000	Weak transcription	Hela-S3	cervix
22	chr2:231063200-231081200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:231063200-231084000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:231063400-231082200	Strong transcription	Fetal Muscle Leg	muscle
25	chr2:231064800-231084000	Weak transcription	Fetal Heart	heart
26	chr2:231065000-231081000	Strong transcription	Fetal Intestine Large	intestine
27	chr2:231065000-231081400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:231066200-231083200	Weak transcription	HUVEC	blood vessel
29	chr2:231066200-231084400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:231066400-231081600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:231067000-231081400	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:231067200-231079000	Strong transcription	Brain Hippocampus Middle	brain
33	chr2:231067200-231081600	Strong transcription	Left Ventricle	heart
34	chr2:231067600-231084200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:231068200-231082200	Strong transcription	Ovary	ovary
36	chr2:231068200-231084400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:231068400-231081800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:231068400-231084000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:231069400-231079200	Strong transcription	Brain Substantia Nigra	brain
40	chr2:231069400-231081600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:231070000-231078000	Strong transcription	Pancreas	Pancrea
42	chr2:231070200-231081600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:231070400-231079600	Strong transcription	Rectal Smooth Muscle	rectum
44	chr2:231070800-231081600	Strong transcription	Lung	lung
45	chr2:231071800-231079200	Strong transcription	Small Intestine	intestine
46	chr2:231071800-231084200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:231072000-231079000	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:231072000-231079800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:231072400-231079800	Strong transcription	Gastric	stomach
50	chr2:231072400-231081600	Strong transcription	Fetal Stomach	stomach

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