Variant report

Variant	rs8191220
Chromosome Location	chr16:82124275-82124276
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:82119460..82121680-chr16:82123785..82126010,2	MCF-7	breast:
2	chr16:82123378..82125016-chr16:82127857..82130334,2	K562	blood:
3	chr16:82115526..82118305-chr16:82123989..82125939,2	K562	blood:
4	chr16:82122956..82125901-chr16:82268346..82271123,2	K562	blood:
5	chr16:82123385..82125267-chr16:82203354..82206097,2	K562	blood:

Variant related genes	Relation type
ENSG00000135698	Chromatin interaction
ENSG00000261029	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10514529	1.00[JPT][hapmap]
rs16956161	1.00[EUR][1000 genomes]
rs16956202	1.00[EUR][1000 genomes]
rs2317419	1.00[EUR][1000 genomes]
rs2955162	0.85[JPT][hapmap]
rs4536470	1.00[EUR][1000 genomes]
rs4541072	1.00[EUR][1000 genomes]
rs58097356	1.00[EUR][1000 genomes]
rs59976110	1.00[EUR][1000 genomes]
rs61537150	1.00[EUR][1000 genomes]
rs6564956	1.00[EUR][1000 genomes]
rs6564957	1.00[EUR][1000 genomes]
rs7186963	1.00[EUR][1000 genomes]
rs7187298	1.00[EUR][1000 genomes]
rs7194226	1.00[EUR][1000 genomes]
rs7202626	1.00[EUR][1000 genomes]
rs72547403	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs72550716	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73600709	1.00[EUR][1000 genomes]
rs73600740	1.00[EUR][1000 genomes]
rs73603064	1.00[EUR][1000 genomes]
rs73603078	1.00[EUR][1000 genomes]
rs74029374	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8053337	1.00[EUR][1000 genomes]
rs8191135	1.00[EUR][1000 genomes]
rs8191155	1.00[EUR][1000 genomes]
rs8191158	1.00[EUR][1000 genomes]
rs8191198	1.00[EUR][1000 genomes]
rs8191207	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8191211	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8191226	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8191246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1061709	chr16:82093183-82159867	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82104800-82124400	Weak transcription	Fetal Stomach	stomach
2	chr16:82116000-82127400	Weak transcription	Gastric	stomach
3	chr16:82117200-82124600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:82118000-82135800	Weak transcription	Pancreas	Pancrea
5	chr16:82118600-82134800	Weak transcription	Colonic Mucosa	Colon
6	chr16:82119200-82129000	Strong transcription	Duodenum Mucosa	Duodenum
7	chr16:82119200-82135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:82119400-82124600	Weak transcription	NHEK	skin
9	chr16:82119400-82126200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:82122200-82134400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr16:82123200-82124600	Weak transcription	Colon Smooth Muscle	Colon
12	chr16:82123400-82129200	Strong transcription	Placenta	Placenta
13	chr16:82123400-82129200	Strong transcription	HepG2	liver
14	chr16:82123800-82126400	Strong transcription	Fetal Intestine Small	intestine
15	chr16:82124000-82125000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:82124000-82128000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:82124000-82132600	Strong transcription	Liver	Liver
18	chr16:82124200-82126400	Strong transcription	Fetal Intestine Large	intestine
19	chr16:82124200-82126600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr16:82124200-82127000	Enhancers	HSMMtube	muscle
21	chr16:82124200-82127400	Enhancers	NHDF-Ad	bronchial
22	chr16:82124200-82128000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr16:82124200-82129000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links