Variant report

Variant	rs17150116
Chromosome Location	chr7:126341395-126341396
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:126339634..126342831-chr7:127031641..127033557,3	K562	blood:
2	chr7:126335306..126336854-chr7:126339390..126341574,2	MCF-7	breast:
3	chr7:126310480..126313047-chr7:126341094..126342688,2	K562	blood:
4	chr7:126306649..126309044-chr7:126341202..126342980,4	K562	blood:
5	chr7:123389433..123391068-chr7:126340145..126342716,2	K562	blood:
6	chr7:126341125..126342675-chr7:126352526..126355240,2	K562	blood:
7	chr7:126329105..126333653-chr7:126334255..126342288,12	K562	blood:
8	chr7:126340457..126344219-chr7:126344404..126348305,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000048405	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1018878	0.90[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11973715	1.00[MEX][hapmap]
rs17150154	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs17150207	1.00[YRI][hapmap]
rs17150214	1.00[YRI][hapmap]
rs59488715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59684804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59960516	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61686538	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6944763	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv889187	chr7:126219766-126478190	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1032108	chr7:126278349-126362592	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126336400-126342800	Enhancers	NHEK	skin
2	chr7:126337800-126342000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:126337800-126342000	Enhancers	HMEC	breast
4	chr7:126337800-126342600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:126338000-126342000	Enhancers	Hela-S3	cervix
6	chr7:126339000-126341600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:126339000-126342600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:126339000-126342600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:126339200-126342800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:126339200-126343000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:126339600-126342800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr7:126339800-126342400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:126339800-126342600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:126339800-126342600	Enhancers	NHDF-Ad	bronchial
15	chr7:126340000-126341400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:126340000-126343200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:126340200-126343200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:126340400-126342200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:126340600-126341400	Enhancers	HUVEC	blood vessel
20	chr7:126340600-126341600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:126340600-126341800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr7:126340600-126342600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:126340600-126343200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:126340600-126343200	Enhancers	HSMM	muscle
25	chr7:126340600-126343600	Enhancers	HSMMtube	muscle
26	chr7:126340800-126341400	Active TSS	NHLF	lung
27	chr7:126340800-126341600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:126340800-126341600	Enhancers	Primary hematopoietic stem cells	blood
29	chr7:126340800-126341600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:126340800-126341600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:126340800-126341600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:126340800-126341600	Flanking Active TSS	Dnd41	blood
33	chr7:126340800-126341600	Enhancers	Osteobl	bone
34	chr7:126340800-126341800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:126340800-126342000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:126340800-126342600	Enhancers	NH-A	brain
37	chr7:126341000-126341400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:126341000-126341400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:126341000-126341400	Active TSS	GM12878-XiMat	blood
40	chr7:126341000-126341600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:126341000-126342000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:126341200-126341400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr7:126341200-126341600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:126341200-126341600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:126341200-126341600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:126341200-126341600	Flanking Active TSS	A549	lung
47	chr7:126341200-126341600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr7:126341200-126342000	Flanking Active TSS	K562	blood
49	chr7:126341200-126342400	Enhancers	Brain Germinal Matrix	brain

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