Variant report

Variant	rs6946848
Chromosome Location	chr7:106788327-106788328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:106587478..106588353-chr7:106787831..106788404,2	MCF-7	breast:
2	chr7:106785985..106788632-chr7:106807421..106810040,3	K562	blood:
3	chr7:106650757..106652736-chr7:106788247..106790695,3	K562	blood:
4	chr7:106685221..106688860-chr7:106786297..106789878,4	K562	blood:
5	chr7:106684670..106686724-chr7:106787966..106789822,2	MCF-7	breast:
6	chr7:106685233..106687642-chr7:106786297..106788782,2	K562	blood:
7	chr7:106689062..106690686-chr7:106788089..106791077,2	K562	blood:
8	chr7:106787797..106788658-chr7:106807825..106808493,2	MCF-7	breast:
9	chr7:106785772..106788697-chr7:106791053..106792877,2	K562	blood:
10	chr7:106771612..106774194-chr7:106787555..106789941,2	K562	blood:
11	chr7:106751220..106753946-chr7:106786479..106788942,2	K562	blood:
12	chr7:106587498..106588409-chr7:106787891..106788662,5	MCF-7	breast:
13	chr7:106787472..106790452-chr7:106792123..106795407,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000243193	Chromatin interaction
ENSG00000105856	Chromatin interaction
ENSG00000005249	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs17153965	1.00[AMR][1000 genomes]
rs56726619	1.00[AMR][1000 genomes]
rs56867358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56907291	1.00[AMR][1000 genomes]
rs57774882	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58860874	1.00[AMR][1000 genomes]
rs59169077	1.00[AMR][1000 genomes]
rs60972363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61005518	1.00[AMR][1000 genomes]
rs61091872	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61123979	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61297311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6466161	1.00[AMR][1000 genomes]
rs6943016	1.00[AMR][1000 genomes]
rs6955667	1.00[AMR][1000 genomes]
rs6955968	1.00[AMR][1000 genomes]
rs6963190	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs6967752	1.00[ASW][hapmap];0.92[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6971571	1.00[AMR][1000 genomes]
rs6975065	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7787027	1.00[AMR][1000 genomes]
rs7790812	1.00[AMR][1000 genomes]
rs7794598	0.82[LWK][hapmap]
rs7795905	1.00[AMR][1000 genomes]
rs7809874	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9969172	1.00[AMR][1000 genomes]
rs9969363	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106760400-106808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:106763000-106807800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:106767400-106797600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:106778400-106807800	Weak transcription	Brain Germinal Matrix	brain
5	chr7:106779800-106790800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:106780000-106807800	Weak transcription	Fetal Heart	heart
7	chr7:106780200-106792000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:106780200-106792200	Weak transcription	Fetal Brain Female	brain
9	chr7:106782000-106795400	Weak transcription	Pancreas	Pancrea
10	chr7:106782600-106808000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:106782800-106807800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:106783600-106807600	Weak transcription	Fetal Stomach	stomach
13	chr7:106783800-106788400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:106784200-106802600	Strong transcription	K562	blood
15	chr7:106785400-106808000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:106785800-106790800	Weak transcription	Fetal Lung	lung
17	chr7:106785800-106807600	Weak transcription	Fetal Kidney	kidney
18	chr7:106786800-106788400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:106787200-106788800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:106787400-106788400	Enhancers	Adipose Nuclei	Adipose
21	chr7:106787400-106791800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:106787400-106792000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:106787400-106805800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:106787600-106788400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:106787600-106788400	Enhancers	NHEK	skin
26	chr7:106787800-106788400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:106787800-106788400	Enhancers	Liver	Liver
28	chr7:106787800-106788400	Enhancers	Brain Hippocampus Middle	brain
29	chr7:106787800-106788400	Enhancers	HMEC	breast
30	chr7:106787800-106788400	Enhancers	NHDF-Ad	bronchial
31	chr7:106787800-106788600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:106787800-106788600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:106787800-106788600	Enhancers	NH-A	brain
34	chr7:106787800-106788800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:106787800-106788800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr7:106787800-106788800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:106787800-106788800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr7:106787800-106788800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr7:106787800-106788800	Enhancers	NHLF	lung
40	chr7:106788000-106788400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:106788000-106788400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:106788000-106788400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr7:106788000-106788800	Enhancers	Placenta	Placenta
44	chr7:106788000-106789000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:106788000-106789000	Enhancers	HUVEC	blood vessel
46	chr7:106788000-106805800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:106788000-106808000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr7:106788200-106788400	Enhancers	A549	lung
49	chr7:106788200-106788400	Flanking Active TSS	Osteobl	bone
50	chr7:106788200-106788600	Enhancers	Pancreatic Islets	Pancreatic Islet

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