Variant report

Variant	rs407415
Chromosome Location	chr6:33579216-33579217
allele	A/G
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	chr6:33577343..33579254-chr6:33589113..33591086,2	K562	blood:
4	chr6:33576269..33579262-chr6:33600060..33601906,2	MCF-7	breast:
5	chr6:33561930..33564001-chr6:33577360..33579939,2	K562	blood:
6	chr6:33578081..33580623-chr6:33585899..33589337,3	K562	blood:

Variant related genes	Relation type
ENSG00000096433	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12662525	0.85[EUR][1000 genomes]
rs3916279	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs434026	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs444697	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4713646	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55792355	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7768202	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9348921	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9348922	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9368768	0.92[AFR][1000 genomes]
rs9368769	0.84[AMR][1000 genomes];0.85[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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33574400-33579400	Enhancers	Spleen	Spleen
2	chr6:33574400-33579600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr6:33574400-33579600	Enhancers	Stomach Mucosa	stomach
4	chr6:33574400-33583200	Enhancers	HMEC	breast
5	chr6:33574600-33580000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:33574600-33582400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:33574800-33579600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr6:33575000-33579600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:33575000-33580200	Enhancers	A549	lung
10	chr6:33575800-33579400	Enhancers	Right Atrium	heart
11	chr6:33576200-33579600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:33576400-33579600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:33576400-33579600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr6:33576400-33579600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:33576400-33579600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:33576400-33580000	Enhancers	Left Ventricle	heart
17	chr6:33576600-33579600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:33576600-33580400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:33576600-33580400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr6:33576800-33579400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:33576800-33579400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:33576800-33579400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:33576800-33579400	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:33576800-33579600	Enhancers	Lung	lung
25	chr6:33576800-33580000	Flanking Active TSS	Hela-S3	cervix
26	chr6:33577000-33579400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:33577000-33579600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:33577000-33580000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:33577200-33580200	Enhancers	Osteobl	bone
30	chr6:33577400-33583000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:33577600-33579400	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr6:33577600-33579600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:33577600-33579600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:33577600-33579600	Enhancers	Fetal Intestine Small	intestine
35	chr6:33577600-33580000	Enhancers	Colonic Mucosa	Colon
36	chr6:33577600-33581000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr6:33577800-33580000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr6:33578000-33579400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:33578000-33587000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr6:33578200-33581000	Weak transcription	NH-A	brain
41	chr6:33578400-33581000	Weak transcription	NHEK	skin
42	chr6:33578400-33581200	Weak transcription	HUVEC	blood vessel
43	chr6:33578600-33579400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr6:33578600-33579400	Enhancers	Esophagus	oesophagus
45	chr6:33578600-33579600	Enhancers	Duodenum Mucosa	Duodenum
46	chr6:33578600-33580000	Enhancers	Brain Substantia Nigra	brain
47	chr6:33578600-33580800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:33578800-33579600	Flanking Active TSS	HepG2	liver
49	chr6:33578800-33581000	Weak transcription	NHLF	lung
50	chr6:33578800-33588000	Weak transcription	Gastric	stomach

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