Variant report

Variant	rs6943177
Chromosome Location	chr7:120985341-120985342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120984176..120986592-chr7:121005474..121007076,2	MCF-7	breast:
2	chr7:120969341..120972493-chr7:120983934..120987124,3	K562	blood:
3	chr7:120983315..120988204-chr7:120988665..120992990,4	K562	blood:
4	chr7:120983770..120986727-chr7:120991532..120993657,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10225647	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10232028	1.00[AMR][1000 genomes]
rs10237944	1.00[AMR][1000 genomes]
rs10248910	1.00[AMR][1000 genomes]
rs10270194	1.00[AMR][1000 genomes]
rs10274424	1.00[AMR][1000 genomes]
rs12111905	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12535821	1.00[AMR][1000 genomes]
rs13438018	1.00[AMR][1000 genomes]
rs17143353	1.00[AMR][1000 genomes]
rs17143357	1.00[AMR][1000 genomes]
rs28635533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2896303	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56835233	1.00[AMR][1000 genomes]
rs57412322	1.00[AMR][1000 genomes]
rs59723881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6944198	1.00[AMR][1000 genomes]
rs6944409	1.00[AMR][1000 genomes]
rs6960006	1.00[AMR][1000 genomes]
rs6975632	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	esv2757237	chr7:120908459-120993326	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	esv2759558	chr7:120908459-120993326	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120970600-121016800	Weak transcription	Gastric	stomach
2	chr7:120970600-121025400	Weak transcription	Spleen	Spleen
3	chr7:120970800-121000400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:120971000-120986400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:120972000-120986600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:120972000-120992400	Weak transcription	Esophagus	oesophagus
7	chr7:120973800-120998800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:120974800-120986400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:120975600-120992400	Weak transcription	HSMMtube	muscle
10	chr7:120976400-120986200	Weak transcription	NHEK	skin
11	chr7:120976400-120986800	Weak transcription	Fetal Brain Female	brain
12	chr7:120977000-120985600	Weak transcription	Left Ventricle	heart
13	chr7:120977400-120987000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:120977600-120992400	Weak transcription	Fetal Intestine Small	intestine
15	chr7:120977800-120985800	Weak transcription	Primary T cells from cord blood	blood
16	chr7:120977800-120986600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:120977800-120999800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:120978000-120986400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:120978600-120986800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:120978600-120990600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:120978600-120994600	Weak transcription	Fetal Thymus	thymus
22	chr7:120978800-121017400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:120979400-120986600	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:120979400-120990400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:120979400-120992400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:120979400-120992400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:120979400-120992400	Weak transcription	Lung	lung
28	chr7:120979400-120995400	Weak transcription	Fetal Heart	heart
29	chr7:120979600-120986800	Weak transcription	K562	blood
30	chr7:120979600-120992400	Weak transcription	Aorta	Aorta
31	chr7:120979800-120986600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:120979800-120986600	Weak transcription	HMEC	breast
33	chr7:120979800-120986800	Weak transcription	Right Ventricle	heart
34	chr7:120979800-121019400	Weak transcription	Thymus	Thymus
35	chr7:120979800-121034800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:120980000-120986200	Weak transcription	Fetal Intestine Large	intestine
37	chr7:120980000-120992000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:120980200-120986800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:120980200-120986800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:120980400-120987200	Weak transcription	GM12878-XiMat	blood
41	chr7:120980400-120992400	Weak transcription	Fetal Stomach	stomach
42	chr7:120980400-120992600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:120980600-120986200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:120980600-120986800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:120980600-120990600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr7:120980800-120986400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:120980800-121019600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:120981000-120986400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:120981000-120992400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr7:120981000-121015200	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links