Variant report

Variant	rs6946197
Chromosome Location	chr7:79717169-79717170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10429156	1.00[TSI][hapmap]
rs12721454	1.00[TSI][hapmap]
rs17153557	1.00[TSI][hapmap]
rs17153567	1.00[TSI][hapmap]
rs59148543	0.86[AFR][1000 genomes]
rs6949382	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6966043	0.84[AFR][1000 genomes]
rs73374586	0.81[AFR][1000 genomes]
rs73376514	0.84[AFR][1000 genomes]
rs73376517	0.81[AFR][1000 genomes]
rs73376520	0.81[AFR][1000 genomes]
rs73376537	0.83[AFR][1000 genomes]
rs73376566	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73376576	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73376578	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73376581	0.97[AFR][1000 genomes];1.00[AMR][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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv607678	chr7:79665817-79726578	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1027494	chr7:79693976-79760332	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79714800-79717200	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:79715800-79717200	Enhancers	Placenta	Placenta
3	chr7:79716000-79720800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:79716400-79717400	Enhancers	Fetal Muscle Leg	muscle
5	chr7:79716400-79717400	Enhancers	HSMMtube	muscle
6	chr7:79716400-79717400	Flanking Active TSS	Osteobl	bone
7	chr7:79716400-79717600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:79716400-79717600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr7:79716400-79717800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:79716400-79718200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:79716400-79718200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:79716400-79718400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:79716400-79718400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:79716400-79718600	Enhancers	Fetal Lung	lung
15	chr7:79716400-79718800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:79716600-79717200	Flanking Active TSS	Colon Smooth Muscle	Colon
17	chr7:79716600-79717200	Enhancers	Rectal Smooth Muscle	rectum
18	chr7:79716600-79717400	Enhancers	Brain Cingulate Gyrus	brain
19	chr7:79716600-79717400	Flanking Active TSS	NHLF	lung
20	chr7:79716600-79718200	Enhancers	Fetal Stomach	stomach
21	chr7:79716600-79718400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:79716600-79718400	Enhancers	HSMM	muscle
23	chr7:79716600-79719200	Enhancers	Ovary	ovary
24	chr7:79716800-79717200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:79716800-79717200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:79716800-79719800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:79716800-79720400	Enhancers	NHEK	skin
28	chr7:79717000-79717200	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr7:79717000-79717400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:79717000-79717400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:79717000-79717400	Flanking Active TSS	Fetal Brain Male	brain
32	chr7:79717000-79717600	Enhancers	NH-A	brain
33	chr7:79717000-79718200	Weak transcription	Fetal Kidney	kidney
34	chr7:79717000-79718400	Enhancers	Brain Substantia Nigra	brain
35	chr7:79717000-79719600	Weak transcription	HMEC	breast
36	chr7:79717000-79720000	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links