Variant report

Variant	rs713050
Chromosome Location	chr6:44092129-44092130
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:44091631-44092769	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr6:44090822-44092243	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31619702..31621666-chr6:44090307..44092403,2	K562	blood:
2	chr6:44089402..44092816-chr6:44223805..44226741,4	K562	blood:
3	chr6:44042539..44044412-chr6:44091796..44094551,2	K562	blood:

Variant related genes	Relation type
TMEM63B	TF binding region
ENSG00000157593	Chromatin interaction
ENSG00000204444	Chromatin interaction
ENSG00000204463	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10428726	0.96[ASN][1000 genomes]
rs10807295	0.96[ASN][1000 genomes]
rs10948122	1.00[CHB][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948123	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948125	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10948126	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11966587	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11967633	0.96[ASN][1000 genomes]
rs11968386	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12525049	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12526662	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664793	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2096200	0.96[ASN][1000 genomes]
rs3188	1.00[JPT][hapmap]
rs35738079	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs41282654	0.93[ASN][1000 genomes]
rs4711765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714744	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862642	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59028814	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60245793	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691447	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912142	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs700006	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73733834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7738970	0.96[ASN][1000 genomes]
rs7771710	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs877112	0.81[MKK][hapmap]

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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs713050	FRS3	cis	cerebellum	SCAN
rs713050	MRPL14	cis	cerebellum	SCAN
rs713050	GPR110	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:44081800-44093600	Weak transcription	Brain Substantia Nigra	brain
3	chr6:44082200-44093600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr6:44083200-44093800	Weak transcription	Fetal Brain Male	brain
5	chr6:44083600-44092600	Enhancers	HMEC	breast
6	chr6:44083800-44093800	Enhancers	Stomach Mucosa	stomach
7	chr6:44084000-44093800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:44085200-44092800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:44085800-44093800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:44087000-44093600	Enhancers	Liver	Liver
11	chr6:44087200-44093600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr6:44087400-44093800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:44087400-44094200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:44087800-44093000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:44087800-44093800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr6:44087800-44094000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:44088000-44093400	Weak transcription	Brain Angular Gyrus	brain
18	chr6:44088000-44094000	Weak transcription	Aorta	Aorta
19	chr6:44088000-44094000	Weak transcription	Esophagus	oesophagus
20	chr6:44088600-44094000	Enhancers	Adipose Nuclei	Adipose
21	chr6:44089000-44092400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr6:44089200-44092200	Enhancers	Fetal Thymus	thymus
23	chr6:44089200-44093800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr6:44089400-44092200	Genic enhancers	NHEK	skin
25	chr6:44089400-44092800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:44089400-44092800	Weak transcription	Ovary	ovary
27	chr6:44089400-44093800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:44089600-44093600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:44089600-44094200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:44089800-44093200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:44090000-44092400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr6:44090000-44092800	Enhancers	Colon Smooth Muscle	Colon
33	chr6:44090000-44093800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:44090000-44093800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr6:44090200-44092400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:44090200-44093000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:44090200-44093600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr6:44090400-44092200	Enhancers	Brain Cingulate Gyrus	brain
39	chr6:44090400-44092400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:44090400-44092600	Enhancers	Fetal Kidney	kidney
41	chr6:44090400-44092800	Enhancers	Fetal Intestine Large	intestine
42	chr6:44090400-44093000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:44090400-44093800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr6:44090400-44094000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr6:44090400-44094000	Enhancers	Thymus	Thymus
46	chr6:44090400-44094200	Enhancers	Primary B cells from peripheral blood	blood
47	chr6:44090600-44092400	Enhancers	NHDF-Ad	bronchial
48	chr6:44090600-44093600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:44090600-44093600	Enhancers	Duodenum Mucosa	Duodenum
50	chr6:44090600-44094200	Enhancers	Small Intestine	intestine

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