Variant report

Variant	rs494835
Chromosome Location	chr6:33581633-33581634
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33581288..33583329-chr6:33600315..33602072,2	K562	blood:
2	chr6:33576666..33582891-chr6:33586745..33591603,10	MCF-7	breast:
3	chr6:33574216..33577618-chr6:33579266..33582393,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10947417	0.89[ASN][1000 genomes]
rs12525769	0.90[EUR][1000 genomes]
rs12526100	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192436	0.89[ASN][1000 genomes]
rs13197265	0.91[EUR][1000 genomes]
rs13203795	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13206871	0.85[EUR][1000 genomes]
rs13219845	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs34213779	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs422652	0.88[EUR][1000 genomes]
rs71565395	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71565398	0.88[EUR][1000 genomes]
rs71565399	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462896	chr6:33534880-33588147	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv602833	chr6:33534880-33588147	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
5	nsv5250	chr6:33565017-33598370	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33574400-33583200	Enhancers	HMEC	breast
2	chr6:33574600-33582400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:33577400-33583000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:33578000-33587000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:33578800-33588000	Weak transcription	Gastric	stomach
6	chr6:33579000-33583800	Weak transcription	Right Ventricle	heart
7	chr6:33579200-33586600	Weak transcription	Fetal Lung	lung
8	chr6:33579200-33587000	Weak transcription	Pancreas	Pancrea
9	chr6:33579400-33587000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:33579400-33587000	Weak transcription	Right Atrium	heart
11	chr6:33579400-33588000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:33580000-33586800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:33580000-33587600	Weak transcription	Brain Substantia Nigra	brain
14	chr6:33580800-33581800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:33580800-33582400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr6:33580800-33582400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:33580800-33583000	Enhancers	NHDF-Ad	bronchial
18	chr6:33580800-33583400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:33581000-33582000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:33581000-33582000	Enhancers	Esophagus	oesophagus
21	chr6:33581000-33582000	Enhancers	Fetal Intestine Small	intestine
22	chr6:33581000-33582000	Enhancers	Placenta Amnion	Placenta Amnion
23	chr6:33581000-33582000	Flanking Active TSS	HepG2	liver
24	chr6:33581000-33582000	Enhancers	NHLF	lung
25	chr6:33581000-33582000	Flanking Active TSS	Osteobl	bone
26	chr6:33581000-33582200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:33581000-33582200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:33581000-33582200	Enhancers	NH-A	brain
29	chr6:33581000-33582200	Enhancers	NHEK	skin
30	chr6:33581000-33582400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:33581000-33582400	Enhancers	Stomach Mucosa	stomach
32	chr6:33581000-33583000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:33581000-33583000	Enhancers	HSMMtube	muscle
34	chr6:33581200-33582200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:33581200-33582200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr6:33581200-33582200	Flanking Active TSS	Hela-S3	cervix
37	chr6:33581200-33582200	Enhancers	HUVEC	blood vessel
38	chr6:33581400-33581800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:33581400-33581800	Enhancers	A549	lung
40	chr6:33581400-33582000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:33581400-33582000	Enhancers	Placenta	Placenta
42	chr6:33581400-33582200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:33581400-33582200	Enhancers	Fetal Intestine Large	intestine
44	chr6:33581400-33583000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:33581600-33581800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:33581600-33581800	Enhancers	HSMM	muscle
47	chr6:33581600-33582000	Enhancers	Colonic Mucosa	Colon
48	chr6:33581600-33582000	Enhancers	Left Ventricle	heart
49	chr6:33581600-33582000	Enhancers	Spleen	Spleen
50	chr6:33581600-33582200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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