Variant report

Variant	rs6822035
Chromosome Location	chr4:119710421-119710422
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119708422..119711280-chr4:119731156..119733832,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10014512	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098452	0.86[CHB][hapmap]
rs11735991	0.82[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12506245	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12513018	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13127508	0.82[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap]
rs2015531	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2288306	0.81[ASW][hapmap];0.86[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.84[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2389689	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298991	0.82[GIH][hapmap];0.86[TSI][hapmap]
rs298996	0.88[TSI][hapmap]
rs298998	0.85[GIH][hapmap];0.88[TSI][hapmap]
rs3775834	0.81[CHB][hapmap]
rs4340779	0.82[ASW][hapmap];0.82[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4586912	0.85[CHB][hapmap]
rs6828577	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6840339	0.86[CHB][hapmap]
rs6840404	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6843239	0.86[CHB][hapmap]
rs6854328	0.81[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.85[LWK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6857117	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7697022	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119625800-119718000	Weak transcription	Hela-S3	cervix
2	chr4:119678600-119717400	Weak transcription	Esophagus	oesophagus
3	chr4:119679000-119717600	Weak transcription	Colonic Mucosa	Colon
4	chr4:119687600-119711800	Weak transcription	Stomach Mucosa	stomach
5	chr4:119688600-119712800	Weak transcription	Gastric	stomach
6	chr4:119688600-119715800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:119688600-119717400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:119688600-119717400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:119688600-119732600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:119688800-119716800	Weak transcription	Fetal Kidney	kidney
11	chr4:119689400-119716200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:119689400-119716600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:119689400-119716800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:119689600-119717600	Weak transcription	K562	blood
15	chr4:119690000-119717600	Weak transcription	Primary T cells from cord blood	blood
16	chr4:119694000-119715000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:119694000-119717400	Weak transcription	Ovary	ovary
18	chr4:119694400-119716600	Weak transcription	Aorta	Aorta
19	chr4:119695000-119717600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:119696400-119715600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:119696800-119717400	Weak transcription	Spleen	Spleen
22	chr4:119698200-119712200	Weak transcription	Adipose Nuclei	Adipose
23	chr4:119702600-119717600	Weak transcription	Fetal Brain Male	brain
24	chr4:119703000-119711000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:119703400-119732200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr4:119703800-119738200	Strong transcription	Placenta	Placenta
27	chr4:119704200-119712600	Strong transcription	NH-A	brain
28	chr4:119704200-119713000	Weak transcription	Lung	lung
29	chr4:119704200-119740000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:119704400-119714000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:119704400-119717600	Weak transcription	Pancreas	Pancrea
32	chr4:119704600-119715600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:119704600-119716400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:119704600-119717600	Weak transcription	Small Intestine	intestine
35	chr4:119704800-119712400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:119704800-119713600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:119704800-119715600	Weak transcription	Primary B cells from cord blood	blood
38	chr4:119704800-119735200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:119705200-119713200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:119705200-119714600	Weak transcription	HepG2	liver
41	chr4:119705200-119716400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:119705200-119716400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:119705200-119716600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:119705200-119717400	Weak transcription	Left Ventricle	heart
45	chr4:119705200-119717400	Weak transcription	HMEC	breast
46	chr4:119705200-119717600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr4:119705200-119717800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:119705200-119721200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:119705200-119748200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr4:119705600-119714000	Weak transcription	Duodenum Mucosa	Duodenum

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