Variant report

Variant	rs7636707
Chromosome Location	chr3:191096051-191096052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191094269..191095897-chr3:191095965..191098815,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11918771	0.94[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs12633312	0.89[CHB][hapmap];0.89[ASN][1000 genomes]
rs12635242	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2028573	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28396104	0.89[ASN][1000 genomes]
rs28627146	0.93[ASN][1000 genomes]
rs60167114	0.97[ASN][1000 genomes]
rs6444540	0.89[CHB][hapmap];0.86[ASN][1000 genomes]
rs6444542	0.98[ASN][1000 genomes]
rs66809497	0.98[ASN][1000 genomes]
rs67382556	0.84[ASN][1000 genomes]
rs6774730	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs6797930	0.89[CHB][hapmap];0.89[ASN][1000 genomes]
rs73185212	0.97[ASN][1000 genomes]
rs7636627	1.00[ASN][1000 genomes]
rs7640087	0.89[ASN][1000 genomes]
rs7648303	1.00[ASN][1000 genomes]
rs920032	0.81[ASN][1000 genomes]
rs9821594	0.89[CHB][hapmap];0.86[ASN][1000 genomes]
rs9834749	0.89[ASN][1000 genomes]
rs9838011	1.00[ASN][1000 genomes]
rs9838014	0.94[ASN][1000 genomes]
rs9841435	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9860740	0.89[CHB][hapmap];0.87[ASN][1000 genomes]
rs9985271	0.93[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv878107	chr3:191069984-191100073	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7636707	CCDC50	cis	Thyroid	GTEx
rs7636707	CCDC50	cis	Nerve Tibial	GTEx
rs7636707	CCDC50	cis	Esophagus Muscularis	GTEx
rs7636707	CCDC50	cis	Artery Aorta	GTEx
rs7636707	CCDC50	cis	Artery Tibial	GTEx
rs7636707	CCDC50	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
2	chr3:191071400-191097400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:191071400-191100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:191072600-191100800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:191075000-191097400	Weak transcription	Thymus	Thymus
6	chr3:191079400-191115800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:191079600-191099200	Weak transcription	Spleen	Spleen
8	chr3:191079600-191116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:191079600-191121200	Weak transcription	Gastric	stomach
10	chr3:191080200-191110200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr3:191080200-191118800	Weak transcription	Pancreas	Pancrea
12	chr3:191080600-191110400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr3:191087000-191115400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:191087800-191100000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:191087800-191109200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:191088000-191109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:191088600-191119600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:191089000-191097200	Weak transcription	Fetal Thymus	thymus
19	chr3:191093400-191096400	Weak transcription	Primary T cells from cord blood	blood
20	chr3:191093400-191097400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr3:191093400-191097400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:191093400-191097400	Weak transcription	HepG2	liver
23	chr3:191093400-191097600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr3:191093400-191098200	Weak transcription	Left Ventricle	heart
25	chr3:191093400-191099200	Weak transcription	Aorta	Aorta
26	chr3:191093400-191099200	Weak transcription	Lung	lung
27	chr3:191093400-191119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:191093400-191121400	Weak transcription	Esophagus	oesophagus
29	chr3:191093600-191098000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr3:191093600-191098400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:191093800-191097600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr3:191093800-191097800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:191093800-191098200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:191094000-191096800	Enhancers	Osteobl	bone
35	chr3:191094000-191097000	Weak transcription	Placenta	Placenta
36	chr3:191094000-191098800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:191094200-191096600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:191094200-191096600	Enhancers	Brain Hippocampus Middle	brain
39	chr3:191094200-191096600	Enhancers	Brain Substantia Nigra	brain
40	chr3:191094200-191096800	Enhancers	Colon Smooth Muscle	Colon
41	chr3:191094200-191096800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr3:191094200-191097400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr3:191094400-191096600	Enhancers	HMEC	breast
44	chr3:191094400-191098000	Weak transcription	Brain Germinal Matrix	brain
45	chr3:191094400-191098200	Weak transcription	Fetal Intestine Large	intestine
46	chr3:191094400-191098400	Weak transcription	Fetal Brain Female	brain
47	chr3:191094600-191096600	Enhancers	NHLF	lung
48	chr3:191094600-191098200	Weak transcription	Fetal Stomach	stomach
49	chr3:191094600-191100600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr3:191094800-191096200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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