Variant report

Variant	rs12673840
Chromosome Location	chr7:102572121-102572122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11543780	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs12668311	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12670723	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17136122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28817087	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3748110	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs3800939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4457269	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59099783	0.90[AMR][1000 genomes]
rs60545001	1.00[AFR][1000 genomes]
rs61749912	0.81[AMR][1000 genomes]
rs6465884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465890	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs6942688	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6963884	1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6969209	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7798381	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102517200-102578200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:102566800-102573000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:102567200-102573200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:102567600-102573000	Weak transcription	Fetal Muscle Leg	muscle
5	chr7:102567600-102573600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:102567600-102574000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:102567800-102573800	Weak transcription	NHLF	lung
8	chr7:102568000-102573200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:102568200-102573000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:102568200-102573000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:102568200-102573600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:102568400-102573000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:102568400-102573000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:102568400-102573800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr7:102568600-102572600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:102568600-102573000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:102568600-102573000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:102568600-102573200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:102568600-102573400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:102568600-102573800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:102568600-102573800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:102568600-102574600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:102568600-102574600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:102568600-102574800	Weak transcription	Osteobl	bone
25	chr7:102568800-102573200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:102568800-102573400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:102569200-102572200	Genic enhancers	Fetal Lung	lung
28	chr7:102569400-102573400	Weak transcription	Brain Germinal Matrix	brain
29	chr7:102570600-102572400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:102571200-102573800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:102571400-102579600	Genic enhancers	HSMM	muscle
32	chr7:102571600-102572800	Enhancers	Stomach Mucosa	stomach
33	chr7:102571600-102573200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:102571600-102573200	Weak transcription	HSMMtube	muscle
35	chr7:102571600-102574800	Weak transcription	Aorta	Aorta
36	chr7:102571600-102581800	Weak transcription	Fetal Intestine Small	intestine
37	chr7:102571800-102572400	Enhancers	Fetal Kidney	kidney
38	chr7:102571800-102573000	Weak transcription	Ovary	ovary
39	chr7:102571800-102573400	Weak transcription	NH-A	brain
40	chr7:102571800-102579400	Weak transcription	Left Ventricle	heart
41	chr7:102572000-102573000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:102572000-102573000	Enhancers	Fetal Stomach	stomach
43	chr7:102572000-102574400	Weak transcription	K562	blood

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