Variant report

Variant	rs2502837
Chromosome Location	chr1:176072739-176072740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:176071649..176074006-chr1:176077683..176079750,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10429846	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798430	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798435	1.00[CHB][hapmap]
rs10913125	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13376706	1.00[ASN][1000 genomes]
rs1357338	0.85[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MKK][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481626	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481632	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481636	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2481637	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481640	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481648	1.00[CHB][hapmap]
rs2481649	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481652	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502821	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502827	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502828	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502833	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2774925	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233165	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4298689	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344283	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4347169	1.00[CHB][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4379645	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4460596	1.00[CHB][hapmap]
rs4534339	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652146	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533299	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537407	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598855	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613965	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821055	1.00[ASN][1000 genomes]
rs6425369	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6425372	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425374	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646754	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657278	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674353	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687849	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704250	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704828	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704833	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72711160	1.00[ASN][1000 genomes]
rs7523048	1.00[CHB][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525112	1.00[CHB][hapmap]
rs7532122	1.00[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541563	1.00[CHB][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554913	1.00[CHB][hapmap]
rs791748	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425444	1.00[EUR][1000 genomes]
rs964931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998631	1.00[CHB][hapmap];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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:176028200-176079200	Weak transcription	HSMMtube	muscle
2	chr1:176046600-176082200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:176048800-176107000	Weak transcription	HepG2	liver
4	chr1:176054400-176131600	Weak transcription	NH-A	brain
5	chr1:176055000-176141600	Weak transcription	Hela-S3	cervix
6	chr1:176061200-176072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:176064400-176072800	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr1:176064400-176072800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:176064600-176072800	ZNF genes & repeats	Liver	Liver
10	chr1:176065600-176154800	Weak transcription	Aorta	Aorta
11	chr1:176066000-176081800	Weak transcription	GM12878-XiMat	blood
12	chr1:176068000-176075000	Weak transcription	HSMM	muscle
13	chr1:176068400-176072800	Strong transcription	Dnd41	blood
14	chr1:176068400-176079200	Weak transcription	Fetal Heart	heart
15	chr1:176068600-176077000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:176068600-176087600	Weak transcription	NHLF	lung
17	chr1:176068800-176072800	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr1:176069000-176080800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:176069000-176090200	Weak transcription	Fetal Kidney	kidney
20	chr1:176069000-176116400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:176069000-176139200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:176069200-176082400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:176069200-176084400	Weak transcription	Psoas Muscle	Psoas
24	chr1:176069200-176087200	Weak transcription	Right Ventricle	heart
25	chr1:176069200-176123200	Weak transcription	Osteobl	bone
26	chr1:176069200-176126600	Weak transcription	HMEC	breast
27	chr1:176069200-176138800	Weak transcription	HUVEC	blood vessel
28	chr1:176069400-176072800	Strong transcription	Fetal Thymus	thymus
29	chr1:176069400-176121200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:176069800-176077800	Weak transcription	Stomach Mucosa	stomach
31	chr1:176070000-176075000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:176070200-176074800	Weak transcription	Fetal Intestine Large	intestine
33	chr1:176070200-176081400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:176070200-176087600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:176070400-176074800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:176070400-176075000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:176070400-176080800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:176070400-176082400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:176070400-176082800	Weak transcription	K562	blood
40	chr1:176070400-176083200	Weak transcription	Colonic Mucosa	Colon
41	chr1:176070400-176083200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr1:176070400-176084600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:176070400-176087400	Weak transcription	Brain Substantia Nigra	brain
44	chr1:176070400-176087600	Weak transcription	Spleen	Spleen
45	chr1:176070400-176091600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr1:176070400-176097800	Weak transcription	A549	lung
47	chr1:176070400-176107400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:176070400-176126400	Weak transcription	Brain Anterior Caudate	brain
49	chr1:176070400-176151400	Weak transcription	Pancreas	Pancrea
50	chr1:176070600-176072800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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