Variant report

Variant	rs17050240
Chromosome Location	chr4:119868410-119868411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119861194..119864004-chr4:119866188..119868711,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10017229	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10518317	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13151719	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17050228	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17261234	0.93[EUR][1000 genomes]
rs17327171	0.86[CEU][hapmap];0.89[EUR][1000 genomes]
rs2389694	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34123613	0.89[ASN][1000 genomes]
rs4261974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4299565	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4834729	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs67109496	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72671630	0.88[ASN][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119858800-119871600	Weak transcription	Psoas Muscle	Psoas
2	chr4:119863400-119869400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:119863400-119870000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:119863400-119871600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:119863600-119869600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:119863600-119871400	Weak transcription	Right Ventricle	heart
7	chr4:119864000-119871400	Weak transcription	Left Ventricle	heart
8	chr4:119864600-119869800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:119864600-119869800	Weak transcription	Aorta	Aorta
10	chr4:119867200-119871400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:119867600-119868800	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr4:119868000-119868600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:119868000-119868800	Enhancers	Fetal Stomach	stomach
14	chr4:119868000-119870000	Enhancers	Rectal Smooth Muscle	rectum
15	chr4:119868200-119868600	Enhancers	Fetal Heart	heart
16	chr4:119868200-119868600	Enhancers	Stomach Smooth Muscle	stomach
17	chr4:119868200-119868800	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr4:119868200-119869000	Enhancers	Duodenum Mucosa	Duodenum
19	chr4:119868200-119869000	Enhancers	Fetal Kidney	kidney
20	chr4:119868400-119868600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr4:119868400-119868600	Flanking Active TSS	Ovary	ovary
22	chr4:119868400-119868600	Enhancers	Small Intestine	intestine
23	chr4:119868400-119868600	Enhancers	NHDF-Ad	bronchial
24	chr4:119868400-119868800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr4:119868400-119868800	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr4:119868400-119868800	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:119868400-119869800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:119868400-119870400	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links