Variant report

Variant	rs960539
Chromosome Location	chr7:121516503-121516504
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121510725..121513695-chr7:121515453..121517993,2	K562	blood:

Variant related genes	Relation type
ENSG00000106278	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1007522	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1007784	0.89[CEU][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10246475	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10256242	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap]
rs10275407	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768615	0.84[AMR][1000 genomes]
rs11978007	0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1206473	0.89[CEU][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1206477	0.88[CEU][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1206481	0.89[CEU][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes]
rs1206482	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs1206483	0.89[CEU][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes]
rs12111892	0.81[AMR][1000 genomes]
rs12666526	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1916880	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1916883	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1916886	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916887	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916888	0.81[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916889	0.82[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2024249	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191782	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2215572	1.00[CEU][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402590	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3757549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757550	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740960	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs740963	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs740964	0.96[CEU][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7778179	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7797305	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap]
rs7802916	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7808915	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809971	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7811200	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429808	chr7:121384049-121600049	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1802911	chr7:121489994-121524500	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121512600-121516800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr7:121512800-121516800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:121512800-121517000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:121512800-121518600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:121513800-121517600	Active TSS	Brain Germinal Matrix	brain
6	chr7:121514000-121517400	Active TSS	Brain Anterior Caudate	brain
7	chr7:121514000-121518400	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr7:121514000-121518800	Active TSS	Fetal Brain Female	brain
9	chr7:121514800-121516800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:121515000-121517000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:121515000-121517200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:121515000-121517600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:121515000-121522400	Weak transcription	HMEC	breast
14	chr7:121515400-121517000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:121515400-121520800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:121515600-121516800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:121515600-121543600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:121515800-121517000	Enhancers	NHEK	skin
19	chr7:121516000-121516800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:121516000-121516800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:121516000-121517000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:121516000-121517200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr7:121516200-121516600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr7:121516200-121516600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:121516200-121516800	Enhancers	Fetal Brain Male	brain
26	chr7:121516200-121517000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:121516200-121517000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:121516200-121517000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:121516200-121524600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:121516400-121516800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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