Variant report

Variant	rs7749744
Chromosome Location	chr6:147400865-147400866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:147235015..147237533-chr6:147398676..147401367,3	MCF-7	breast:
2	chr6:147400723..147405346-chr6:147522959..147527467,8	MCF-7	breast:
3	chr6:147385817..147387477-chr6:147399477..147401782,2	MCF-7	breast:
4	chr6:147399639..147401369-chr6:147401434..147403188,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233452	Chromatin interaction
ENSG00000164506	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1105441	0.82[EUR][1000 genomes]
rs12209736	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1529016	0.87[CHB][hapmap]
rs1881660	0.81[CEU][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2328803	0.82[EUR][1000 genomes]
rs3734477	0.96[CEU][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4896903	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6570788	0.81[EUR][1000 genomes]
rs6570789	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901138	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6910250	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6920096	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6920901	0.84[TSI][hapmap]
rs6924131	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6930740	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7755338	0.82[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7767185	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7772651	0.87[CHB][hapmap]
rs9322088	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322089	1.00[CEU][hapmap];0.85[CHD][hapmap];0.82[JPT][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9322090	0.80[EUR][1000 genomes]
rs9377043	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9377044	0.80[EUR][1000 genomes]
rs9377045	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9386178	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9403845	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9485141	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9497685	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9497690	0.86[AMR][1000 genomes];0.97[EUR][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	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886751	chr6:147354092-147490398	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147397400-147401400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:147398600-147401200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:147398800-147401400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:147398800-147401800	Weak transcription	Pancreas	Pancrea
5	chr6:147398800-147403800	Weak transcription	Gastric	stomach
6	chr6:147399200-147402200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:147399400-147402200	Weak transcription	Stomach Mucosa	stomach
8	chr6:147399600-147401200	Weak transcription	Fetal Intestine Large	intestine
9	chr6:147400000-147401400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:147400000-147402200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:147400000-147402200	Weak transcription	Fetal Intestine Small	intestine
12	chr6:147400200-147401400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:147400200-147401400	Weak transcription	NHEK	skin
14	chr6:147400400-147401400	Weak transcription	Placenta	Placenta
15	chr6:147400400-147401400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:147400600-147401200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:147400600-147401400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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