Variant report

Variant	rs6912325
Chromosome Location	chr6:4607067-4607068
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	NFIC	chr6:4606917-4608334	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr6:4607057-4608299	ECC-1	luminal epithelium:	n/a	n/a
3	TCF7L2	chr6:4607053-4607913	PANC-1	pancreas:	n/a	n/a
4	FOXM1	chr6:4607030-4608354	ECC-1	luminal epithelium:	n/a	n/a
5	EP300	chr6:4607031-4608244	ECC-1	luminal epithelium:	n/a	chr6:4607790-4607799 chr6:4607179-4607193

No.	Distal block	Cell Line	Cell type
1	chr6:4606187..4608803-chr6:4609320..4611011,2	K562	blood:
2	chr6:4606412..4609387-chr6:4772936..4775041,2	MCF-7	breast:
3	chr6:4601505..4603151-chr6:4605939..4607714,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205444	TF binding region
ENSG00000260673	TF binding region
ENSG00000153046	Chromatin interaction
ENSG00000205444	Chromatin interaction
ENSG00000260673	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11751457	0.88[EUR][1000 genomes]
rs11756102	0.87[EUR][1000 genomes]
rs11962754	0.90[EUR][1000 genomes]
rs11964427	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138534	0.90[EUR][1000 genomes]
rs2235724	0.90[EUR][1000 genomes]
rs377207	0.87[EUR][1000 genomes]
rs378901	0.85[EUR][1000 genomes]
rs385236	0.87[EUR][1000 genomes]
rs385884	0.87[EUR][1000 genomes]
rs390126	0.87[EUR][1000 genomes]
rs390617	0.82[EUR][1000 genomes]
rs413716	0.87[EUR][1000 genomes]
rs418563	0.87[EUR][1000 genomes]
rs421930	0.87[EUR][1000 genomes]
rs424137	0.87[EUR][1000 genomes]
rs438021	0.82[EUR][1000 genomes]
rs453768	0.87[EUR][1000 genomes]
rs4960004	0.87[EUR][1000 genomes]
rs4960009	0.91[EUR][1000 genomes]
rs601192	0.87[EUR][1000 genomes]
rs62384944	0.88[EUR][1000 genomes]
rs6911463	0.91[EUR][1000 genomes]
rs6913171	0.87[EUR][1000 genomes]
rs7764724	0.89[ASN][1000 genomes]
rs9328262	0.90[EUR][1000 genomes]
rs9502199	0.87[EUR][1000 genomes]
rs9502200	0.87[EUR][1000 genomes]
rs9502206	0.91[EUR][1000 genomes]
rs9502208	1.00[ASN][1000 genomes]
rs9504151	0.87[EUR][1000 genomes]
rs9504156	0.90[EUR][1000 genomes]
rs9504159	0.91[EUR][1000 genomes]
rs9504163	0.88[EUR][1000 genomes]
rs9504165	0.92[EUR][1000 genomes]
rs9504166	0.92[EUR][1000 genomes]
rs9504168	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9504169	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][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	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv970370	chr6:4605843-4619763	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4603400-4608800	Weak transcription	Spleen	Spleen
2	chr6:4603600-4607200	Weak transcription	Esophagus	oesophagus
3	chr6:4604000-4607200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:4604000-4607200	Weak transcription	NHLF	lung
5	chr6:4604400-4607200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:4604400-4607200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:4604400-4607800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:4604400-4610200	Weak transcription	Fetal Heart	heart
9	chr6:4605400-4607600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:4606000-4607200	Enhancers	Fetal Muscle Trunk	muscle
11	chr6:4606000-4616800	Enhancers	Fetal Muscle Leg	muscle
12	chr6:4606400-4607200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr6:4606400-4607600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:4606400-4607600	Enhancers	Lung	lung
15	chr6:4606400-4607600	Enhancers	Right Ventricle	heart
16	chr6:4606400-4608000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:4606400-4608200	Enhancers	Fetal Stomach	stomach
18	chr6:4606400-4609000	Enhancers	Adipose Nuclei	Adipose
19	chr6:4606400-4609200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:4606400-4610600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:4606400-4612200	Enhancers	Placenta	Placenta
22	chr6:4606600-4608000	Enhancers	Fetal Brain Male	brain
23	chr6:4606600-4608200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:4606800-4607200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:4606800-4607200	Enhancers	NH-A	brain
26	chr6:4606800-4607600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:4606800-4608200	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr6:4606800-4609000	Enhancers	HUVEC	blood vessel
29	chr6:4606800-4609400	Enhancers	Brain Germinal Matrix	brain
30	chr6:4606800-4610600	Weak transcription	Left Ventricle	heart
31	chr6:4607000-4607200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr6:4607000-4607200	Enhancers	NHDF-Ad	bronchial
33	chr6:4607000-4607400	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr6:4607000-4607400	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr6:4607000-4607400	Enhancers	Colon Smooth Muscle	Colon
36	chr6:4607000-4607600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:4607000-4607600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:4607000-4607600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr6:4607000-4607600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr6:4607000-4607600	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr6:4607000-4607600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr6:4607000-4607600	Enhancers	Fetal Brain Female	brain
43	chr6:4607000-4607600	Enhancers	Pancreas	Pancrea
44	chr6:4607000-4607600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr6:4607000-4607600	Enhancers	Rectal Smooth Muscle	rectum
46	chr6:4607000-4607600	Enhancers	Right Atrium	heart
47	chr6:4607000-4607600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr6:4607000-4607600	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr6:4607000-4607600	Flanking Active TSS	HMEC	breast
50	chr6:4607000-4607600	Flanking Active TSS	HSMM	muscle

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