Variant report

Variant	rs4603086
Chromosome Location	chr1:176062892-176062893
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	chr1:176059320..176060876-chr1:176061797..176063897,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10494499	0.84[EUR][1000 genomes]
rs10798427	0.84[AMR][1000 genomes]
rs10798428	0.82[AMR][1000 genomes]
rs10913150	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12038027	0.84[AMR][1000 genomes]
rs12403794	0.84[EUR][1000 genomes]
rs1357337	0.84[AMR][1000 genomes]
rs17351933	0.84[EUR][1000 genomes]
rs17352072	0.84[EUR][1000 genomes]
rs17354252	0.83[EUR][1000 genomes]
rs1770643	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2039231	0.82[ASN][1000 genomes]
rs2481627	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2481634	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2481635	0.89[EUR][1000 genomes]
rs2481647	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2481651	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2481657	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2502822	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2502826	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2502830	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2502832	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2502834	0.82[ASN][1000 genomes]
rs2502835	0.82[ASN][1000 genomes]
rs2502836	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2502841	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2502842	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2502847	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4129061	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4307526	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4314844	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4650934	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs471534	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs533403	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs553852	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56367284	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs580978	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60719126	0.87[EUR][1000 genomes]
rs611883	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61821007	0.87[EUR][1000 genomes]
rs61821009	0.87[EUR][1000 genomes]
rs61821028	0.84[EUR][1000 genomes]
rs61821029	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61822662	0.84[EUR][1000 genomes]
rs6425368	0.84[AMR][1000 genomes]
rs6684747	0.86[AMR][1000 genomes]
rs6704509	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs704827	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74127185	0.83[EUR][1000 genomes]
rs7517351	0.82[AMR][1000 genomes]
rs7524972	0.83[AMR][1000 genomes]
rs7537435	0.84[AMR][1000 genomes]
rs7545043	0.84[AMR][1000 genomes]
rs7545639	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7552181	0.84[AMR][1000 genomes]
rs791744	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs791795	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs791800	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs791801	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9783047	0.84[AMR][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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
3	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
4	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:176012400-176065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:176028200-176079200	Weak transcription	HSMMtube	muscle
7	chr1:176035000-176069800	Weak transcription	NHEK	skin
8	chr1:176035200-176067600	Weak transcription	Colonic Mucosa	Colon
9	chr1:176035400-176066400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:176035400-176067200	Weak transcription	HUVEC	blood vessel
11	chr1:176037200-176064600	Weak transcription	Gastric	stomach
12	chr1:176037200-176067200	Weak transcription	Small Intestine	intestine
13	chr1:176037200-176067400	Weak transcription	Osteobl	bone
14	chr1:176038600-176068800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:176039200-176068800	Weak transcription	HMEC	breast
16	chr1:176040600-176065400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:176042800-176067200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:176043000-176065400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:176045200-176064600	Weak transcription	Fetal Stomach	stomach
20	chr1:176045800-176066000	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:176046600-176082200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:176048400-176064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:176048400-176067600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:176048600-176063000	Weak transcription	Fetal Lung	lung
25	chr1:176048600-176064800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:176048600-176065600	Weak transcription	A549	lung
27	chr1:176048600-176066400	Weak transcription	Fetal Kidney	kidney
28	chr1:176048800-176064400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:176048800-176064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:176048800-176065200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:176048800-176065200	Weak transcription	Brain Germinal Matrix	brain
32	chr1:176048800-176065400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:176048800-176066400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:176048800-176107000	Weak transcription	HepG2	liver
35	chr1:176049200-176065200	Weak transcription	Left Ventricle	heart
36	chr1:176049200-176065400	Weak transcription	Thymus	Thymus
37	chr1:176049200-176067200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:176050000-176065200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:176050000-176066000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:176050200-176064400	Weak transcription	Fetal Intestine Large	intestine
41	chr1:176050200-176065800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:176050400-176064400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:176050400-176065200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:176050400-176065400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr1:176050400-176066400	Weak transcription	K562	blood
46	chr1:176050400-176066600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:176050400-176067200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:176050400-176067200	Weak transcription	HSMM	muscle
49	chr1:176050400-176067200	Weak transcription	NHDF-Ad	bronchial
50	chr1:176051400-176065200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links