Variant report

Variant	rs4873612
Chromosome Location	chr8:52770420-52770421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10104555	0.86[EUR][1000 genomes]
rs10106132	0.81[EUR][1000 genomes]
rs10106734	1.00[EUR][1000 genomes]
rs10111727	0.86[EUR][1000 genomes]
rs11990932	1.00[EUR][1000 genomes]
rs11992330	0.85[EUR][1000 genomes]
rs16916958	0.86[EUR][1000 genomes]
rs1996261	0.81[EUR][1000 genomes]
rs28829739	0.81[EUR][1000 genomes]
rs4242473	0.81[EUR][1000 genomes]
rs4242477	0.81[EUR][1000 genomes]
rs4242478	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4257997	0.81[EUR][1000 genomes]
rs4305894	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4418330	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4500071	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4518654	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873599	0.81[EUR][1000 genomes]
rs4873600	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873601	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4873605	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55730191	0.86[EUR][1000 genomes]
rs55791360	1.00[EUR][1000 genomes]
rs56034922	0.86[EUR][1000 genomes]
rs56105709	0.93[EUR][1000 genomes]
rs56109937	1.00[EUR][1000 genomes]
rs56150121	0.93[EUR][1000 genomes]
rs6473659	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6473663	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6997032	0.81[EUR][1000 genomes]
rs6997972	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7000570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73583635	0.86[EUR][1000 genomes]
rs73583640	0.86[EUR][1000 genomes]
rs73592250	0.86[EUR][1000 genomes]
rs7820936	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7845506	0.86[EUR][1000 genomes]
rs9643787	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv3415343	chr8:52770271-52770469	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52722000-52771400	Weak transcription	Gastric	stomach
2	chr8:52731200-52771000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:52733200-52783800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:52733800-52776400	Weak transcription	GM12878-XiMat	blood
5	chr8:52735600-52773400	Weak transcription	Brain Germinal Matrix	brain
6	chr8:52739800-52782600	Weak transcription	K562	blood
7	chr8:52743000-52771400	Weak transcription	HepG2	liver
8	chr8:52743400-52771400	Weak transcription	Esophagus	oesophagus
9	chr8:52744000-52771200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:52744000-52771400	Weak transcription	Fetal Brain Female	brain
11	chr8:52744200-52770800	Weak transcription	Placenta	Placenta
12	chr8:52751200-52771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:52752400-52771200	Weak transcription	Fetal Heart	heart
14	chr8:52754200-52771400	Weak transcription	NHLF	lung
15	chr8:52757400-52770600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:52757600-52771400	Weak transcription	HSMM	muscle
17	chr8:52758400-52770800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:52759000-52786200	Weak transcription	Lung	lung
19	chr8:52759200-52786200	Weak transcription	Spleen	Spleen
20	chr8:52763800-52771400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:52763800-52772600	Weak transcription	Fetal Kidney	kidney
22	chr8:52763800-52781800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:52764000-52771000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:52764000-52774600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:52764000-52779400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:52764000-52781800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:52764000-52783600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:52764000-52793400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:52764200-52779000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr8:52764200-52782400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:52764400-52773400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:52764600-52776800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:52765400-52771200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr8:52765400-52773600	Strong transcription	Fetal Thymus	thymus
35	chr8:52765600-52771400	Weak transcription	Small Intestine	intestine
36	chr8:52766000-52770800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:52766000-52771600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:52766000-52772200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr8:52766000-52772400	Weak transcription	HUVEC	blood vessel
40	chr8:52766000-52772600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:52766400-52771400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:52766400-52771400	Weak transcription	Aorta	Aorta
43	chr8:52766400-52771400	Weak transcription	Ovary	ovary
44	chr8:52766400-52771400	Weak transcription	Pancreas	Pancrea
45	chr8:52766400-52771400	Weak transcription	Right Atrium	heart
46	chr8:52766400-52775200	Weak transcription	Left Ventricle	heart
47	chr8:52766600-52770800	Weak transcription	Right Ventricle	heart
48	chr8:52766600-52770800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:52766600-52771000	Weak transcription	Brain Hippocampus Middle	brain
50	chr8:52766600-52771000	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links