Variant report

Variant	rs6976211
Chromosome Location	chr7:83651854-83651855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10235789	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12533806	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13221547	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1533995	0.85[CEU][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1533997	0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs4732534	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62473928	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6944702	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6967045	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020784	chr7:83577402-83687108	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv888623	chr7:83596683-83687622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888625	chr7:83616528-83687622	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3352967	chr7:83626144-83684599	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888626	chr7:83651854-83698177	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6976211	RUNDC3B	cis	cerebellum	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83589000-83654600	Weak transcription	Fetal Stomach	stomach
2	chr7:83591200-83654600	Weak transcription	Fetal Muscle Leg	muscle
3	chr7:83606000-83654000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:83634800-83652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:83634800-83654600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:83635000-83654400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:83636200-83654800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:83638600-83652000	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:83642400-83652000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:83643600-83652000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:83647200-83652000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:83647200-83654800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:83647400-83652000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:83648400-83654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:83648600-83654000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:83649600-83654200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:83650400-83652000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:83650400-83652400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:83650400-83652400	Enhancers	NHLF	lung
21	chr7:83650600-83652600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:83650600-83652600	Enhancers	NH-A	brain
23	chr7:83650600-83653000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:83650600-83653000	Enhancers	Fetal Heart	heart
25	chr7:83650800-83652200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr7:83650800-83652400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:83650800-83652800	Enhancers	Adipose Nuclei	Adipose
28	chr7:83651000-83652000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:83651000-83654600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:83651200-83652200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:83651200-83652200	Weak transcription	Osteobl	bone
32	chr7:83651400-83652200	Enhancers	Stomach Smooth Muscle	stomach
33	chr7:83651400-83652600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr7:83651400-83653000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:83651400-83653000	Enhancers	Fetal Brain Female	brain
36	chr7:83651600-83652000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:83651600-83652000	Flanking Active TSS	A549	lung
38	chr7:83651600-83652200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr7:83651600-83652800	Enhancers	Fetal Intestine Small	intestine
40	chr7:83651600-83653000	Enhancers	Fetal Intestine Large	intestine
41	chr7:83651600-83653000	Enhancers	Hela-S3	cervix
42	chr7:83651600-83653000	Enhancers	HepG2	liver
43	chr7:83651800-83652200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr7:83651800-83652200	Enhancers	Stomach Mucosa	stomach
45	chr7:83651800-83652600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:83651800-83652600	Genic enhancers	NHDF-Ad	bronchial
47	chr7:83651800-83652800	Enhancers	NHEK	skin

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