Variant report

Variant	rs2134696
Chromosome Location	chr1:161781200-161781201
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10733044	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10737502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753645	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10753666	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10800068	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1394070	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1553444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1806594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2055539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2134690	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341468	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2341479	0.90[ASN][1000 genomes]
rs2499855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2499856	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2880055	0.90[ASN][1000 genomes]
rs34312480	0.90[ASN][1000 genomes]
rs34461550	1.00[ASN][1000 genomes]
rs35621393	0.97[ASN][1000 genomes]
rs36080602	0.90[ASN][1000 genomes]
rs3767633	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4233380	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4300199	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4579731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656335	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656339	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4657103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427633	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6427639	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6667896	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6685369	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698065	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6701754	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs71639910	0.89[ASN][1000 genomes]
rs7517386	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7532448	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs924777	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr1:161738600-161794000	Weak transcription	Pancreas	Pancrea
2	chr1:161738600-161795600	Weak transcription	Gastric	stomach
3	chr1:161753400-161800600	Weak transcription	Spleen	Spleen
4	chr1:161755000-161793600	Weak transcription	Colonic Mucosa	Colon
5	chr1:161757400-161797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:161762200-161790600	Weak transcription	Fetal Brain Male	brain
7	chr1:161762400-161790800	Weak transcription	NH-A	brain
8	chr1:161762400-161791200	Weak transcription	Right Ventricle	heart
9	chr1:161762400-161795400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:161762800-161797600	Weak transcription	HMEC	breast
11	chr1:161763000-161797400	Weak transcription	NHLF	lung
12	chr1:161766000-161790800	Weak transcription	Lung	lung
13	chr1:161767400-161791200	Weak transcription	Aorta	Aorta
14	chr1:161768000-161789400	Weak transcription	HepG2	liver
15	chr1:161772000-161782200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:161772200-161789400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:161772600-161785800	Weak transcription	Hela-S3	cervix
18	chr1:161773000-161790600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:161773400-161789800	Weak transcription	Brain Substantia Nigra	brain
20	chr1:161773400-161790800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:161773400-161797200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:161773400-161854400	Weak transcription	Small Intestine	intestine
23	chr1:161774600-161786000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:161775800-161794800	Weak transcription	Fetal Stomach	stomach
25	chr1:161776400-161787000	Weak transcription	Fetal Heart	heart
26	chr1:161776600-161785800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:161776800-161785800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:161776800-161789400	Weak transcription	Placenta	Placenta
29	chr1:161777600-161786000	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:161778600-161782400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr1:161779400-161781200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:161779600-161781200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:161779800-161781200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:161779800-161781400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr1:161779800-161781600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:161779800-161781800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:161779800-161782600	Strong transcription	Fetal Thymus	thymus
38	chr1:161779800-161783200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:161780000-161781200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:161780000-161781600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:161780000-161789800	Weak transcription	Ovary	ovary
42	chr1:161780200-161784400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr1:161780200-161786000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:161780200-161797200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:161780400-161781600	Strong transcription	Osteobl	bone
46	chr1:161780400-161785800	Strong transcription	Liver	Liver
47	chr1:161780400-161791200	Weak transcription	Brain Angular Gyrus	brain
48	chr1:161780400-161791200	Weak transcription	Thymus	Thymus
49	chr1:161780400-161795000	Weak transcription	Esophagus	oesophagus
50	chr1:161780400-161795000	Weak transcription	Left Ventricle	heart

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