Variant report

Variant	rs9496363
Chromosome Location	chr6:142710182-142710183
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:142710120-142710270	AG04450	lung:	n/a	n/a
2	NFIC	chr6:142709881-142710592	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:142596671..142598809-chr6:142708125..142710238,2	MCF-7	breast:
2	chr6:142621739..142624319-chr6:142709513..142711217,3	MCF-7	breast:
3	chr6:142466930..142469707-chr6:142709065..142710643,2	K562	blood:

Variant related genes	Relation type
GPR126	TF binding region
ENSG00000112414	Chromatin interaction
ENSG00000009844	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs13437156	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1411147	1.00[AMR][1000 genomes]
rs6921559	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7760219	0.82[AFR][1000 genomes]
rs9484627	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484628	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484629	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484635	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484636	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484638	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484640	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484641	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484644	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496336	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496350	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496351	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496362	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496375	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496376	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496381	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496383	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496384	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496385	1.00[AMR][1000 genomes]
rs9496386	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496387	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496393	1.00[AMR][1000 genomes]
rs9496407	1.00[AMR][1000 genomes]
rs9496408	1.00[AMR][1000 genomes]
rs9496410	1.00[AMR][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	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142698600-142733200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:142699800-142718600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:142699800-142719200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:142700000-142714200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:142705800-142713800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:142706200-142719600	Weak transcription	NHEK	skin
7	chr6:142706400-142717200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:142706600-142710200	Enhancers	A549	lung
9	chr6:142708000-142734800	Weak transcription	Esophagus	oesophagus
10	chr6:142708200-142718600	Weak transcription	Placenta	Placenta
11	chr6:142708200-142719400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:142708800-142711600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:142709200-142710600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:142709200-142721000	Weak transcription	Fetal Intestine Small	intestine
15	chr6:142709400-142711800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:142709400-142718800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:142709800-142710200	Enhancers	HSMM	muscle
18	chr6:142709800-142711400	Weak transcription	HepG2	liver
19	chr6:142710000-142711400	Weak transcription	Fetal Lung	lung
20	chr6:142710000-142711800	Weak transcription	Primary T cells from cord blood	blood
21	chr6:142710000-142711800	Weak transcription	Liver	Liver
22	chr6:142710000-142712000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:142710000-142715200	Weak transcription	HUVEC	blood vessel
24	chr6:142710000-142721600	Weak transcription	NHLF	lung

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