Variant report

Variant	rs73466210
Chromosome Location	chr6:79782360-79782361
allele	C/T
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	RUNX3	chr6:79782144-79782877	GM12878	blood:	n/a	n/a
2	NFATC1	chr6:79782114-79782986	GM12878	blood:	n/a	n/a
3	RUNX3	chr6:79782160-79782946	GM12878	blood:	n/a	n/a
4	POLR2A	chr6:79782185-79782878	GM12892	blood:	n/a	n/a
5	MEF2A	chr6:79782317-79782850	GM12878	blood:	n/a	chr6:79782631-79782652
6	NFIC	chr6:79782212-79783054	GM12878	blood:	n/a	n/a
7	POLR2A	chr6:79782178-79782390	H1-hESC	embryonic stem cell:	n/a	n/a
8	NFATC1	chr6:79782132-79782904	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:79782127-79782472	GM12892	blood:	n/a	n/a
10	POLR2A	chr6:79782106-79782500	GM12878	blood:	n/a	n/a
11	POLR2A	chr6:79782031-79782409	GM12892	blood:	n/a	n/a
12	ATF2	chr6:79782316-79782849	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:79780917..79783210-chr6:79805611..79807685,2	K562	blood:
2	chr6:76311195..76314195-chr6:79782356..79784947,3	K562	blood:
3	chr6:79780063..79782941-chr6:79943061..79945739,2	K562	blood:
4	chr6:79781654..79785263-chr6:79942636..79944912,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000217512	TF binding region
ENSG00000270362	Chromatin interaction
ENSG00000112701	Chromatin interaction
ENSG00000118418	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10484945	1.00[EUR][1000 genomes]
rs1335536	1.00[EUR][1000 genomes]
rs35686657	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55654065	1.00[EUR][1000 genomes]
rs55682143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55779333	1.00[EUR][1000 genomes]
rs55786726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56125439	1.00[EUR][1000 genomes]
rs56177348	1.00[EUR][1000 genomes]
rs56735945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56926933	1.00[EUR][1000 genomes]
rs57810626	1.00[EUR][1000 genomes]
rs58284219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59392118	1.00[EUR][1000 genomes]
rs60132767	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61411441	1.00[EUR][1000 genomes]
rs61649774	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6904575	1.00[EUR][1000 genomes]
rs6917206	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462251	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462269	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462294	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462296	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73464119	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73464137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73464147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73466240	1.00[EUR][1000 genomes]
rs73466263	1.00[EUR][1000 genomes]
rs73466271	1.00[EUR][1000 genomes]
rs73466273	1.00[EUR][1000 genomes]
rs73466290	1.00[EUR][1000 genomes]
rs73764092	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73767528	1.00[EUR][1000 genomes]
rs7762406	1.00[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	nsv830705	chr6:79659297-79829530	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv518477	chr6:79700159-79850427	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv981330	chr6:79781902-79785177	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79704600-79786600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:79707400-79786000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:79707400-79786600	Weak transcription	Esophagus	oesophagus
4	chr6:79730000-79786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:79742000-79785400	Weak transcription	HSMMtube	muscle
6	chr6:79755000-79785400	Weak transcription	Colonic Mucosa	Colon
7	chr6:79760600-79785400	Weak transcription	Right Ventricle	heart
8	chr6:79760600-79786800	Weak transcription	Spleen	Spleen
9	chr6:79768600-79786400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:79769800-79785400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:79770400-79784400	Weak transcription	Fetal Brain Male	brain
12	chr6:79770400-79784600	Weak transcription	NHEK	skin
13	chr6:79770400-79784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:79770400-79784800	Weak transcription	HMEC	breast
15	chr6:79770400-79785000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:79770400-79785400	Weak transcription	Thymus	Thymus
17	chr6:79770400-79786600	Weak transcription	Lung	lung
18	chr6:79770600-79782600	Weak transcription	A549	lung
19	chr6:79770600-79783800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:79770600-79785000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:79770600-79785000	Weak transcription	Hela-S3	cervix
22	chr6:79770600-79785400	Weak transcription	Liver	Liver
23	chr6:79770600-79785800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:79770600-79786000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:79771000-79782800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:79772000-79784800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:79773400-79785400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:79774200-79783400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:79774800-79783400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:79775000-79785400	Weak transcription	Fetal Stomach	stomach
31	chr6:79775200-79785800	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:79775200-79786600	Weak transcription	Pancreas	Pancrea
33	chr6:79775400-79783000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:79775400-79783600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:79775400-79783800	Weak transcription	Fetal Heart	heart
36	chr6:79775400-79785000	Weak transcription	Adipose Nuclei	Adipose
37	chr6:79775400-79786600	Weak transcription	Gastric	stomach
38	chr6:79776800-79782800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr6:79777000-79786000	Weak transcription	Left Ventricle	heart
40	chr6:79777800-79782800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr6:79777800-79784800	Weak transcription	NH-A	brain
42	chr6:79777800-79785600	Weak transcription	Fetal Thymus	thymus
43	chr6:79778000-79784000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:79778200-79785000	Weak transcription	Fetal Intestine Small	intestine
45	chr6:79778200-79785800	Weak transcription	Ovary	ovary
46	chr6:79778400-79785400	Weak transcription	Psoas Muscle	Psoas
47	chr6:79778800-79784000	Weak transcription	Brain Angular Gyrus	brain
48	chr6:79779600-79784800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr6:79779600-79785600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:79779800-79783000	Strong transcription	Primary B cells from cord blood	blood

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