Variant report

Variant	rs2214665
Chromosome Location	chr7:83768894-83768895
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83766680..83768990-chr7:83769908..83771879,2	K562	blood:
2	chr7:83731925..83734584-chr7:83767257..83769496,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10230974	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10231580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10232605	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10244779	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10263183	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10277194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10278542	0.93[CEU][hapmap];0.87[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10282129	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10488270	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10488271	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11769574	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11773308	0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12707621	0.88[CHB][hapmap];0.85[EUR][1000 genomes]
rs13222995	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13228652	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13246393	0.85[EUR][1000 genomes]
rs1541410	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs17158648	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17158650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17301441	1.00[CEU][hapmap];0.87[CHB][hapmap];0.97[EUR][1000 genomes]
rs2040873	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2040874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189851	0.93[CEU][hapmap];0.94[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2301892	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2372034	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34018474	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34443324	0.81[ASN][1000 genomes]
rs34449541	0.81[ASN][1000 genomes]
rs34805696	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35789545	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801653	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3801656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4461845	1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6959163	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7778244	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7780521	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7781126	0.88[CHB][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7791361	0.86[CHB][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7794876	1.00[CHB][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7811829	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83745000-83769400	Weak transcription	Fetal Stomach	stomach
2	chr7:83752600-83769600	Weak transcription	A549	lung
3	chr7:83753800-83769600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:83753800-83770800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:83754000-83772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:83754000-83774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:83761000-83775200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:83764200-83771800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:83764400-83769600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:83764400-83771000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:83764400-83774000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:83765400-83769000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:83765400-83769000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:83765600-83773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:83766800-83770000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:83767000-83776800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:83767200-83769800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:83767400-83769200	Enhancers	NHLF	lung
19	chr7:83767400-83769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:83767600-83769800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:83768000-83769600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:83768000-83770000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:83768000-83772000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr7:83768200-83769000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr7:83768200-83769800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:83768600-83769000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:83768600-83769200	Enhancers	Fetal Lung	lung
28	chr7:83768600-83770600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:83768800-83769000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:83768800-83769000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:83768800-83769000	Enhancers	Colon Smooth Muscle	Colon
32	chr7:83768800-83769000	Flanking Active TSS	NHDF-Ad	bronchial
33	chr7:83768800-83774200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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