Variant report

Variant	rs74101985
Chromosome Location	chr1:95498620-95498621
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	chr1:95494263..95496819-chr1:95498496..95500808,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11165297	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11590106	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12717800	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12751633	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12755096	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12760863	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35328371	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4131811	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669262	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6671842	0.88[AMR][1000 genomes]
rs6674604	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6695561	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6698894	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs71652601	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71652602	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7540821	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7543156	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9661047	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95480000-95508800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:95485000-95500400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:95485200-95507000	Weak transcription	Fetal Heart	heart
4	chr1:95488000-95507000	Weak transcription	Ovary	ovary
5	chr1:95488200-95499400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:95488200-95505400	Weak transcription	Pancreas	Pancrea
7	chr1:95488200-95507000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:95488200-95537600	Weak transcription	Right Ventricle	heart
9	chr1:95488400-95507000	Weak transcription	Brain Angular Gyrus	brain
10	chr1:95488400-95507800	Weak transcription	Brain Substantia Nigra	brain
11	chr1:95488600-95507800	Weak transcription	Colon Smooth Muscle	Colon
12	chr1:95488800-95505400	Weak transcription	Small Intestine	intestine
13	chr1:95489400-95517200	Weak transcription	Aorta	Aorta
14	chr1:95489800-95499600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:95491400-95503600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:95491400-95507000	Weak transcription	Fetal Kidney	kidney
17	chr1:95491600-95529600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr1:95492600-95507800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:95492800-95499800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:95492800-95504000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:95492800-95507000	Weak transcription	Fetal Stomach	stomach
22	chr1:95492800-95508800	Weak transcription	Primary T cells from cord blood	blood
23	chr1:95493400-95508800	Weak transcription	Liver	Liver
24	chr1:95495000-95499600	Weak transcription	Brain Germinal Matrix	brain
25	chr1:95495000-95500400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:95495000-95504800	Weak transcription	Esophagus	oesophagus
27	chr1:95495200-95499200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:95495200-95499200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:95495200-95499200	Weak transcription	HSMM	muscle
30	chr1:95495200-95499200	Weak transcription	HSMMtube	muscle
31	chr1:95495200-95508000	Weak transcription	HepG2	liver
32	chr1:95495200-95508800	Weak transcription	Fetal Intestine Small	intestine
33	chr1:95495400-95499000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:95495400-95499200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:95495400-95499400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:95495400-95499400	Weak transcription	NHEK	skin
37	chr1:95495400-95503800	Weak transcription	Primary B cells from cord blood	blood
38	chr1:95495400-95505800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:95495400-95507000	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:95497000-95508000	Weak transcription	Left Ventricle	heart
41	chr1:95497800-95501200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:95498400-95499400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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