Variant report

Variant	rs9496331
Chromosome Location	chr6:142629424-142629425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:142628313..142630816-chr6:142633666..142637433,4	MCF-7	breast:
2	chr6:142629358..142632248-chr6:142646121..142647772,2	MCF-7	breast:
3	chr6:142622268..142624499-chr6:142626683..142629679,2	K562	blood:
4	chr6:142622999..142626449-chr6:142626683..142630758,4	K562	blood:
5	chr6:142628297..142630973-chr6:142676608..142679458,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112414	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs28461686	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9321860	1.00[MEX][hapmap]
rs9496330	0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496333	1.00[AMR][1000 genomes]
rs9496406	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1029666	chr6:142594099-142643084	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142624800-142634000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:142624800-142651800	Weak transcription	HSMM	muscle
3	chr6:142625600-142635400	Weak transcription	Placenta	Placenta
4	chr6:142626000-142632200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:142626000-142634200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:142626000-142650600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:142626200-142631800	Weak transcription	NHEK	skin
8	chr6:142626600-142639800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:142627000-142634800	Enhancers	Liver	Liver
10	chr6:142628000-142629800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:142628800-142634600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:142629000-142629600	Flanking Active TSS	A549	lung
13	chr6:142629000-142631200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:142629200-142629600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
15	chr6:142629200-142629600	Flanking Active TSS	NHLF	lung
16	chr6:142629200-142629800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:142629200-142629800	Flanking Active TSS	Fetal Lung	lung
18	chr6:142629400-142629600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:142629400-142630000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:142629400-142632000	Weak transcription	Stomach Mucosa	stomach
21	chr6:142629400-142637000	Genic enhancers	HepG2	liver

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