Variant report

Variant	rs62065222
Chromosome Location	chr17:38271199-38271200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38267755..38271453-chr17:38442988..38446987,5	K562	blood:
2	chr17:38269583..38271786-chr17:38337084..38338600,2	MCF-7	breast:
3	chr17:38216301..38218919-chr17:38270455..38273179,2	K562	blood:
4	chr17:38267480..38272193-chr17:38332816..38336625,5	MCF-7	breast:
5	chr17:38267838..38274115-chr17:38331817..38337587,12	MCF-7	breast:
6	chr17:38248607..38250140-chr17:38268958..38271761,2	K562	blood:
7	chr17:38247453..38250107-chr17:38269665..38271761,2	K562	blood:
8	chr17:38270304..38272748-chr17:38472331..38476518,6	MCF-7	breast:
9	chr17:38269551..38272040-chr17:38476568..38478805,2	MCF-7	breast:
10	chr17:38269490..38271710-chr17:38295731..38297283,2	K562	blood:
11	chr17:38180489..38185018-chr17:38268156..38272012,4	MCF-7	breast:
12	chr17:38269604..38271663-chr17:38319802..38322582,2	MCF-7	breast:
13	chr17:38268889..38271750-chr17:38296269..38298064,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000008838	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000238793	Chromatin interaction
ENSG00000094804	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000108349	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17678928	0.83[EUR][1000 genomes]
rs56374417	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv528369	chr17:38256693-38289003	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38263400-38272400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:38266800-38271200	Flanking Active TSS	HepG2	liver
3	chr17:38269200-38271400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:38270000-38271200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr17:38270000-38271200	Weak transcription	Ovary	ovary
6	chr17:38270000-38271400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:38270000-38271600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:38270000-38271600	Enhancers	Placenta	Placenta
9	chr17:38270000-38271600	Enhancers	Pancreas	Pancrea
10	chr17:38270000-38273600	Enhancers	Fetal Thymus	thymus
11	chr17:38270000-38274400	Weak transcription	Small Intestine	intestine
12	chr17:38270000-38276600	Weak transcription	Right Atrium	heart
13	chr17:38270200-38271400	Enhancers	Fetal Muscle Trunk	muscle
14	chr17:38270200-38271400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr17:38270200-38271400	Weak transcription	Thymus	Thymus
16	chr17:38270200-38271400	Enhancers	HSMM	muscle
17	chr17:38270200-38271400	Enhancers	HSMMtube	muscle
18	chr17:38270200-38271400	Enhancers	NHDF-Ad	bronchial
19	chr17:38270200-38271600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr17:38270200-38271600	Enhancers	Stomach Mucosa	stomach
21	chr17:38270200-38271600	Enhancers	NHLF	lung
22	chr17:38270200-38271800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:38270200-38271800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr17:38270200-38271800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr17:38270200-38272200	Enhancers	Fetal Stomach	stomach
26	chr17:38270200-38276400	Weak transcription	Colonic Mucosa	Colon
27	chr17:38270200-38277000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr17:38270200-38277200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:38270400-38271200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr17:38270400-38271400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr17:38270400-38271400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr17:38270400-38271600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr17:38270400-38271600	Enhancers	Colon Smooth Muscle	Colon
34	chr17:38270400-38271600	Enhancers	Fetal Muscle Leg	muscle
35	chr17:38270400-38271600	Enhancers	Rectal Smooth Muscle	rectum
36	chr17:38270400-38271600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr17:38270400-38271600	Enhancers	Stomach Smooth Muscle	stomach
38	chr17:38270400-38271800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr17:38270400-38271800	Enhancers	A549	lung
40	chr17:38270400-38272200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr17:38270400-38272200	Enhancers	Fetal Intestine Large	intestine
42	chr17:38270400-38272400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:38270400-38272400	Enhancers	Fetal Intestine Small	intestine
44	chr17:38270400-38273800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:38270400-38274000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr17:38270400-38274000	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr17:38270400-38274000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr17:38270400-38274600	Weak transcription	Primary B cells from cord blood	blood
49	chr17:38270400-38276000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr17:38270400-38276400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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