Variant report

Variant	rs422652
Chromosome Location	chr6:33579448-33579449
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33577318..33579921-chr6:33582665..33584246,2	K562	blood:
2	chr6:33576666..33582891-chr6:33586745..33591603,10	MCF-7	breast:
3	chr6:33574216..33577618-chr6:33579266..33582393,4	MCF-7	breast:
4	chr6:33561930..33564001-chr6:33577360..33579939,2	K562	blood:
5	chr6:33578081..33580623-chr6:33585899..33589337,3	K562	blood:

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12526100	0.84[EUR][1000 genomes]
rs12529825	0.83[CEU][hapmap]
rs13197265	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13206871	0.84[AMR][1000 genomes]
rs13219845	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs210125	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs210163	1.00[JPT][hapmap]
rs34213779	0.84[EUR][1000 genomes]
rs494835	0.88[EUR][1000 genomes]
rs71565395	0.84[EUR][1000 genomes]
rs71565398	0.91[AMR][1000 genomes]
rs71565399	0.91[AMR][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33574400-33579600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr6:33574400-33579600	Enhancers	Stomach Mucosa	stomach
3	chr6:33574400-33583200	Enhancers	HMEC	breast
4	chr6:33574600-33580000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:33574600-33582400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:33574800-33579600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:33575000-33579600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:33575000-33580200	Enhancers	A549	lung
9	chr6:33576200-33579600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:33576400-33579600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:33576400-33579600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:33576400-33579600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:33576400-33579600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:33576400-33580000	Enhancers	Left Ventricle	heart
15	chr6:33576600-33579600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:33576600-33580400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:33576600-33580400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:33576800-33579600	Enhancers	Lung	lung
19	chr6:33576800-33580000	Flanking Active TSS	Hela-S3	cervix
20	chr6:33577000-33579600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:33577000-33580000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:33577200-33580200	Enhancers	Osteobl	bone
23	chr6:33577400-33583000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:33577600-33579600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:33577600-33579600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:33577600-33579600	Enhancers	Fetal Intestine Small	intestine
27	chr6:33577600-33580000	Enhancers	Colonic Mucosa	Colon
28	chr6:33577600-33581000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:33577800-33580000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr6:33578000-33587000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:33578200-33581000	Weak transcription	NH-A	brain
32	chr6:33578400-33581000	Weak transcription	NHEK	skin
33	chr6:33578400-33581200	Weak transcription	HUVEC	blood vessel
34	chr6:33578600-33579600	Enhancers	Duodenum Mucosa	Duodenum
35	chr6:33578600-33580000	Enhancers	Brain Substantia Nigra	brain
36	chr6:33578600-33580800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:33578800-33579600	Flanking Active TSS	HepG2	liver
38	chr6:33578800-33581000	Weak transcription	NHLF	lung
39	chr6:33578800-33588000	Weak transcription	Gastric	stomach
40	chr6:33579000-33579600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:33579000-33580800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:33579000-33580800	Weak transcription	NHDF-Ad	bronchial
43	chr6:33579000-33581000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:33579000-33581000	Weak transcription	HSMMtube	muscle
45	chr6:33579000-33581200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr6:33579000-33581400	Weak transcription	Placenta	Placenta
47	chr6:33579000-33583800	Weak transcription	Right Ventricle	heart
48	chr6:33579200-33579600	Bivalent Enhancer	Fetal Stomach	stomach
49	chr6:33579200-33579800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:33579200-33579800	Weak transcription	HSMM	muscle

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