Variant report

Variant	rs997381
Chromosome Location	chr7:106686916-106686917
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:106682031..106689663-chr7:106807150..106811711,11	K562	blood:
2	chr7:106685778..106688042-chr7:106804016..106805559,2	MCF-7	breast:
3	chr7:106685233..106687642-chr7:106786297..106788782,2	K562	blood:
4	chr7:106685221..106688860-chr7:106786297..106789878,4	K562	blood:

Variant related genes	Relation type
ENSG00000105856	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1476878	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1476879	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1544582	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191919	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237650	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2243984	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2244846	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2536492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2536493	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2536495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6466155	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs722236	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs849299	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs849300	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs849303	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][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	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106684400-106687000	Active TSS	Brain Anterior Caudate	brain
2	chr7:106684400-106687000	Active TSS	Fetal Stomach	stomach
3	chr7:106684400-106687200	Active TSS	Ovary	ovary
4	chr7:106684400-106688400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:106684600-106687000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:106684600-106687400	Active TSS	Brain Angular Gyrus	brain
7	chr7:106684800-106687800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:106685000-106687200	Active TSS	Fetal Brain Female	brain
9	chr7:106685000-106687600	Active TSS	Fetal Brain Male	brain
10	chr7:106685600-106687600	Active TSS	Right Atrium	heart
11	chr7:106686000-106687000	Active TSS	Brain Germinal Matrix	brain
12	chr7:106686000-106688000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:106686200-106687400	Active TSS	K562	blood
14	chr7:106686200-106688000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr7:106686400-106687200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:106686400-106687200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr7:106686400-106687200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:106686400-106687600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:106686400-106687600	Flanking Active TSS	HUVEC	blood vessel
20	chr7:106686400-106687800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr7:106686600-106687000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:106686600-106687000	Enhancers	Fetal Lung	lung
23	chr7:106686600-106687200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:106686600-106688200	Active TSS	Brain Cingulate Gyrus	brain
25	chr7:106686800-106687000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:106686800-106687000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:106686800-106687000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr7:106686800-106687000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr7:106686800-106687000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:106686800-106687000	Active TSS	Adipose Nuclei	Adipose
31	chr7:106686800-106687200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr7:106686800-106687200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr7:106686800-106687200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:106686800-106687200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:106686800-106687200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:106686800-106687200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr7:106686800-106687200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr7:106686800-106687200	Active TSS	Stomach Smooth Muscle	stomach
39	chr7:106686800-106687200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr7:106686800-106687400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:106686800-106687600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:106686800-106687600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:106686800-106687600	Enhancers	Fetal Kidney	kidney
44	chr7:106686800-106687800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:106686800-106687800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:106686800-106688200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr7:106686800-106688400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:106686800-106688400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:106686800-106688400	Weak transcription	Psoas Muscle	Psoas
50	chr7:106686800-106688600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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