Variant report

Variant	rs17017860
Chromosome Location	chr1:211821673-211821674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211816134..211817787-chr1:211819701..211822516,2	K562	blood:
2	chr1:211808019..211810498-chr1:211819976..211822363,2	K562	blood:
3	chr1:211820504..211824177-chr1:211831233..211834573,3	MCF-7	breast:
4	chr1:211750037..211752864-chr1:211820167..211823136,4	MCF-7	breast:
5	chr1:211664330..211664868-chr1:211821407..211821972,2	K562	blood:
6	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
7	chr1:211819966..211822371-chr1:211824422..211826209,2	K562	blood:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction
ENSG00000228792	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17017848	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs6540699	0.89[AFR][1000 genomes]
rs6702422	0.89[AFR][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	nsv1010919	chr1:211804252-211823073	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211811400-211829600	Enhancers	Fetal Intestine Small	intestine
2	chr1:211811600-211828200	Enhancers	Fetal Intestine Large	intestine
3	chr1:211813800-211822600	Weak transcription	NHDF-Ad	bronchial
4	chr1:211817400-211827000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:211817400-211827400	Weak transcription	Fetal Heart	heart
6	chr1:211817600-211821800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:211817600-211823000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:211817600-211823200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:211817600-211826800	Weak transcription	Gastric	stomach
10	chr1:211817600-211827000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:211817600-211830600	Weak transcription	Right Atrium	heart
12	chr1:211818400-211828400	Weak transcription	Adipose Nuclei	Adipose
13	chr1:211818600-211823000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:211819600-211824000	Enhancers	HUVEC	blood vessel
15	chr1:211819600-211824400	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:211820400-211826800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:211820800-211824400	Enhancers	HepG2	liver
18	chr1:211821000-211822000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:211821000-211822200	Enhancers	NHEK	skin
20	chr1:211821000-211822600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:211821000-211823400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:211821200-211821800	Enhancers	Colonic Mucosa	Colon
23	chr1:211821200-211821800	Enhancers	Esophagus	oesophagus
24	chr1:211821200-211821800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr1:211821200-211822200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:211821200-211822200	Flanking Active TSS	Hela-S3	cervix
27	chr1:211821200-211822200	Enhancers	HMEC	breast
28	chr1:211821200-211822800	Enhancers	Liver	Liver
29	chr1:211821200-211822800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr1:211821200-211822800	Enhancers	Pancreas	Pancrea
31	chr1:211821200-211823600	Enhancers	Placenta	Placenta
32	chr1:211821200-211824000	Enhancers	Stomach Mucosa	stomach
33	chr1:211821200-211824200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:211821400-211822800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr1:211821400-211824000	Weak transcription	Small Intestine	intestine
36	chr1:211821600-211822000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:211821600-211822000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:211821600-211822000	Flanking Active TSS	A549	lung
39	chr1:211821600-211822000	Enhancers	GM12878-XiMat	blood
40	chr1:211821600-211822200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:211821600-211822400	Enhancers	K562	blood

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