Variant report

Variant	rs7208316
Chromosome Location	chr17:38688251-38688252
allele	C/G
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38655284..38659044-chr17:38686692..38691600,6	MCF-7	breast:
2	chr17:38688054..38689798-chr17:39833411..39836205,2	K562	blood:
3	chr17:38569158..38571862-chr17:38686767..38689398,2	K562	blood:
4	chr17:38683152..38684806-chr17:38688002..38689977,2	K562	blood:
5	chr17:38685508..38688282-chr17:38688422..38690348,2	MCF-7	breast:
6	chr17:38629230..38633367-chr17:38687189..38689523,3	MCF-7	breast:
7	chr17:38594386..38596625-chr17:38685591..38688253,2	MCF-7	breast:
8	chr17:38687399..38689381-chr17:38717054..38718959,2	MCF-7	breast:
9	chr17:38567583..38575027-chr17:38687434..38693796,7	K562	blood:
10	chr17:38595245..38602220-chr17:38686762..38692136,14	MCF-7	breast:
11	chr17:38687442..38690186-chr17:38709464..38712029,2	K562	blood:
12	chr17:38597490..38601746-chr17:38686793..38692185,8	MCF-7	breast:
13	chr17:38573012..38575027-chr17:38685953..38689242,3	K562	blood:
14	chr17:38681809..38684806-chr17:38685907..38689977,4	K562	blood:
15	chr17:38686790..38691109-chr17:38691407..38694438,4	K562	blood:
16	chr17:38687797..38689749-chr17:38691599..38693505,2	MCF-7	breast:
17	chr17:38475026..38477507-chr17:38687765..38689324,2	MCF-7	breast:
18	chr17:38599626..38601535-chr17:38686710..38689693,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000131747	Chromatin interaction
ENSG00000131746	Chromatin interaction
ENSG00000126353	Chromatin interaction
ENSG00000240125	Chromatin interaction
ENSG00000141753	Chromatin interaction
ENSG00000266088	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1072070	1.00[ASN][1000 genomes]
rs11871009	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28485796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4890088	0.83[ASN][1000 genomes]
rs60411936	1.00[ASN][1000 genomes]
rs7208120	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7212543	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs7219622	1.00[CHB][hapmap]
rs73983076	0.83[ASN][1000 genomes]
rs73983078	1.00[ASN][1000 genomes]
rs8064741	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8069091	1.00[CHB][hapmap]
rs8077724	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9675320	1.00[CHB][hapmap]
rs9909468	0.94[AMR][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	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38681200-38688600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:38682600-38689000	Weak transcription	HepG2	liver
3	chr17:38683200-38688400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr17:38683200-38688600	Weak transcription	NHDF-Ad	bronchial
5	chr17:38683200-38688800	Weak transcription	Spleen	Spleen
6	chr17:38683200-38689200	Weak transcription	Left Ventricle	heart
7	chr17:38683600-38690000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:38683800-38691000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr17:38683800-38691200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr17:38684200-38688400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:38684200-38689200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr17:38684200-38689200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr17:38684200-38691200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr17:38684200-38691200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr17:38684200-38691400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr17:38684200-38697000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr17:38684600-38689600	Enhancers	Primary T cells from cord blood	blood
18	chr17:38684800-38688800	Enhancers	A549	lung
19	chr17:38685200-38691400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:38685800-38688600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:38686200-38689200	Enhancers	Hela-S3	cervix
22	chr17:38686400-38691200	Enhancers	Primary B cells from peripheral blood	blood
23	chr17:38686400-38691200	Enhancers	Osteobl	bone
24	chr17:38686400-38698200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr17:38686600-38690000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr17:38686600-38690600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:38686600-38690600	Enhancers	HMEC	breast
28	chr17:38686600-38691200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:38686600-38692600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:38686600-38697200	Enhancers	Fetal Thymus	thymus
31	chr17:38686800-38689400	Enhancers	Dnd41	blood
32	chr17:38686800-38691000	Enhancers	Thymus	Thymus
33	chr17:38686800-38691200	Enhancers	Primary B cells from cord blood	blood
34	chr17:38687000-38689200	Enhancers	NHEK	skin
35	chr17:38687000-38689800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:38687000-38690400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr17:38687000-38692800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr17:38687000-38696600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr17:38687200-38689800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:38687200-38690800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:38687200-38691200	Enhancers	Primary T cells fromperipheralblood	blood
42	chr17:38687400-38688600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:38687400-38689200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr17:38687400-38690000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr17:38687400-38690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:38687400-38698800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr17:38687600-38688600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr17:38687600-38689000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr17:38687600-38689000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:38687600-38689800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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