Variant report

Variant	rs3013634
Chromosome Location	chr1:180778201-180778202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10914096	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12085097	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339768	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1970404	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2331626	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2331886	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2944259	0.90[EUR][1000 genomes]
rs2944262	0.90[EUR][1000 genomes]
rs3002113	0.90[EUR][1000 genomes]
rs3002114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3002115	0.90[EUR][1000 genomes]
rs3002116	0.90[EUR][1000 genomes]
rs3002117	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3002123	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3013633	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3789366	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3843278	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3856058	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3897798	0.85[ASN][1000 genomes]
rs4108558	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs66520411	0.90[EUR][1000 genomes]
rs6659049	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6659368	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6682974	0.89[EUR][1000 genomes]
rs67780680	0.90[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72707408	0.86[EUR][1000 genomes]
rs72723045	0.90[EUR][1000 genomes]
rs7514404	0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7524547	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7541650	0.85[ASN][1000 genomes]
rs7548318	0.90[EUR][1000 genomes]
rs7550031	0.89[EUR][1000 genomes]
rs9425881	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv3777	chr1:180741213-180780313	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180741600-180784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:180754800-180781600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:180755000-180783800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:180755400-180803800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:180755400-180820400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr1:180756000-180781400	Weak transcription	Liver	Liver
8	chr1:180756800-180778800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:180756800-180810200	Weak transcription	Fetal Brain Male	brain
10	chr1:180757400-180779400	Weak transcription	Left Ventricle	heart
11	chr1:180758000-180804000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:180758600-180781200	Weak transcription	Adipose Nuclei	Adipose
13	chr1:180759000-180794800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:180761200-180789200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:180761400-180784400	Weak transcription	NHEK	skin
16	chr1:180761400-180794000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:180761400-180796400	Weak transcription	HMEC	breast
18	chr1:180761400-180804600	Weak transcription	Aorta	Aorta
19	chr1:180762000-180780600	Weak transcription	Osteobl	bone
20	chr1:180762000-180785200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:180763200-180780600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:180763600-180806800	Weak transcription	Psoas Muscle	Psoas
23	chr1:180763800-180780400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:180766200-180784800	Weak transcription	Fetal Lung	lung
25	chr1:180767400-180820400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:180767600-180795400	Weak transcription	Thymus	Thymus
27	chr1:180768000-180812000	Weak transcription	Pancreas	Pancrea
28	chr1:180768600-180781200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:180769000-180802000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:180769800-180781600	Weak transcription	Lung	lung
31	chr1:180770400-180783600	Weak transcription	Fetal Heart	heart
32	chr1:180771000-180783800	Weak transcription	HepG2	liver
33	chr1:180771000-180813600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:180771200-180785600	Weak transcription	HUVEC	blood vessel
35	chr1:180771800-180780400	Weak transcription	HSMM	muscle
36	chr1:180772000-180789400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:180772000-180789400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:180772000-180823200	Weak transcription	Fetal Stomach	stomach
39	chr1:180772200-180801800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr1:180772400-180784600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:180773000-180799800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:180773000-180802200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:180773400-180849200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:180773800-180796600	Weak transcription	Spleen	Spleen
45	chr1:180773800-180853200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:180774000-180806800	Weak transcription	Placenta	Placenta
47	chr1:180774200-180778400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:180774200-180785000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:180774400-180785800	Weak transcription	Esophagus	oesophagus
50	chr1:180774400-180797200	Weak transcription	Fetal Muscle Trunk	muscle

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