Variant report

Variant	rs7643070
Chromosome Location	chr3:52070033-52070034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52069883..52072776-chr3:52161086..52163454,2	K562	blood:
2	chr3:52063916..52065862-chr3:52068496..52071263,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs13314125	0.84[CHB][hapmap]
rs13315877	1.00[ASN][1000 genomes]
rs13320599	1.00[ASN][1000 genomes]
rs17051977	0.84[CHB][hapmap]
rs2304505	0.84[CHB][hapmap]
rs323868	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs323871	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs323873	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs323874	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs323879	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs323886	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs323887	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs323893	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs323895	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs323898	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs3755797	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs3774344	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs411209	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4986825	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs59682660	0.88[ASN][1000 genomes]
rs61546679	0.88[ASN][1000 genomes]
rs6792297	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72964042	0.82[ASN][1000 genomes]
rs9809977	0.84[CHB][hapmap]
rs9813222	1.00[ASN][1000 genomes]
rs9813541	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9817653	0.84[CHB][hapmap]
rs9817697	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9841469	0.85[CHB][hapmap]
rs9843852	0.85[CHB][hapmap]
rs9846049	1.00[JPT][hapmap]
rs9847073	0.84[CHB][hapmap]
rs9860982	0.84[CHB][hapmap];0.86[JPT][hapmap]
rs9868101	0.85[CHB][hapmap]
rs9882775	0.84[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520211	chr3:51772347-52166147	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003453	chr3:51962081-52099441	Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv1804090	chr3:51962081-52140591	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	esv1835339	chr3:51962081-52140591	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv1003581	chr3:51973395-52108645	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1001062	chr3:51973395-52134638	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
7	nsv876780	chr3:51981021-52101799	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
9	nsv876786	chr3:52041566-52236762	Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv984541	chr3:52055970-52285682	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52050600-52073400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:52062200-52073800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:52063600-52072400	Weak transcription	HSMM	muscle
4	chr3:52064400-52073600	Weak transcription	Spleen	Spleen
5	chr3:52066200-52071000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:52066400-52073600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:52067200-52072400	Weak transcription	Fetal Brain Female	brain
8	chr3:52067400-52071800	Weak transcription	Esophagus	oesophagus
9	chr3:52067400-52073400	Weak transcription	Left Ventricle	heart
10	chr3:52067600-52072600	Weak transcription	Fetal Brain Male	brain
11	chr3:52067600-52072600	Weak transcription	Right Atrium	heart
12	chr3:52067600-52073600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:52067600-52073800	Weak transcription	Brain Germinal Matrix	brain
14	chr3:52067800-52070200	Weak transcription	Brain Anterior Caudate	brain
15	chr3:52067800-52070200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:52067800-52071400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr3:52067800-52071400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:52067800-52072800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:52068000-52070200	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:52068000-52070200	Weak transcription	Brain Substantia Nigra	brain
21	chr3:52068600-52070400	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:52068600-52074000	Weak transcription	Liver	Liver
23	chr3:52068800-52073600	Enhancers	HepG2	liver
24	chr3:52069200-52072200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:52069600-52071200	Enhancers	GM12878-XiMat	blood
26	chr3:52069600-52071800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:52069600-52075000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:52069600-52075800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:52069600-52076200	Enhancers	Brain Angular Gyrus	brain
30	chr3:52069800-52070200	Strong transcription	Right Ventricle	heart
31	chr3:52069800-52070600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr3:52069800-52070800	Enhancers	Primary B cells from cord blood	blood
33	chr3:52069800-52071800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:52070000-52070200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:52070000-52071200	Enhancers	Primary B cells from peripheral blood	blood
36	chr3:52070000-52076200	Enhancers	Brain Inferior Temporal Lobe	brain

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