Variant report

Variant	rs2481637
Chromosome Location	chr1:176068915-176068916
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10429846	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798430	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798443	0.90[AFR][1000 genomes]
rs10913125	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13376706	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1357338	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481626	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481629	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481632	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481640	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481644	0.84[AFR][1000 genomes]
rs2481648	0.92[AFR][1000 genomes]
rs2481649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481650	0.89[AFR][1000 genomes]
rs2481652	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502821	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502827	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502828	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502833	1.00[ASN][1000 genomes]
rs2502837	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774925	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233165	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4298689	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344283	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4347169	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4379645	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534339	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652146	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs508320	0.93[AFR][1000 genomes]
rs533299	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537407	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613965	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821055	1.00[ASN][1000 genomes]
rs6425372	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425373	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425374	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646754	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657278	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674353	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687849	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704250	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704828	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704833	1.00[ASN][1000 genomes]
rs72711160	1.00[ASN][1000 genomes]
rs7523048	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541563	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs791748	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425444	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs964931	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998631	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv872564	chr1:176027978-176102808	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv872565	chr1:176058782-176172795	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:176028200-176079200	Weak transcription	HSMMtube	muscle
3	chr1:176035000-176069800	Weak transcription	NHEK	skin
4	chr1:176046600-176082200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:176048800-176107000	Weak transcription	HepG2	liver
6	chr1:176054400-176131600	Weak transcription	NH-A	brain
7	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
8	chr1:176058000-176070000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:176059400-176070200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:176061200-176072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:176062400-176072000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr1:176064400-176072800	ZNF genes & repeats	Primary T cells from cord blood	blood
13	chr1:176064400-176072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:176064600-176070400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:176064600-176072800	ZNF genes & repeats	Liver	Liver
16	chr1:176064800-176070400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:176065000-176069800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:176065000-176071800	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr1:176065200-176069000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr1:176065200-176070000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:176065400-176070200	ZNF genes & repeats	Fetal Intestine Large	intestine
22	chr1:176065400-176071000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr1:176065600-176069000	ZNF genes & repeats	Fetal Lung	lung
24	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
25	chr1:176065800-176069400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:176066000-176069000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr1:176066000-176069200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:176066000-176070400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:176066000-176070600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr1:176066000-176071400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
31	chr1:176066000-176081800	Weak transcription	GM12878-XiMat	blood
32	chr1:176066200-176070000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr1:176066400-176069000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
34	chr1:176066400-176070600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
35	chr1:176066800-176069000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:176066800-176071400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr1:176066800-176071600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:176067000-176069200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:176067000-176070400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr1:176067200-176069000	ZNF genes & repeats	NHDF-Ad	bronchial
41	chr1:176067200-176069200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
42	chr1:176067200-176069200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:176067200-176069200	ZNF genes & repeats	HUVEC	blood vessel
44	chr1:176067200-176069400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr1:176067200-176069600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:176067200-176070600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
47	chr1:176067200-176070800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
48	chr1:176067200-176071000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr1:176067200-176071600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr1:176067400-176069000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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