Variant report

Variant	rs4897483
Chromosome Location	chr6:131336364-131336365
allele	C/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	TCF7L2	chr6:131336168-131336463	Hela-S3	cervix:	n/a	chr6:131336331-131336347 chr6:131336333-131336343
2	FOXA1	chr6:131335996-131336384	HepG2	liver:	n/a	chr6:131336205-131336220
3	FOXA1	chr6:131335972-131336739	HepG2	liver:	n/a	chr6:131336553-131336565 chr6:131336205-131336220
4	TCF7L2	chr6:131336067-131336412	HepG2	liver:	n/a	chr6:131336331-131336347 chr6:131336333-131336343 chr6:131336076-131336083
5	TCF7L2	chr6:131335771-131336735	HEK293	kidney:	n/a	chr6:131336331-131336347 chr6:131336333-131336343 chr6:131335910-131335924 chr6:131336076-131336083
6	CEBPB	chr6:131335281-131336411	Hela-S3	cervix:	n/a	chr6:131335692-131335703 chr6:131335418-131335429
7	FOXA1	chr6:131336073-131336454	HepG2	liver:	n/a	chr6:131336205-131336220
8	TCF7L2	chr6:131335998-131336672	PANC-1	pancreas:	n/a	chr6:131336331-131336347 chr6:131336333-131336343 chr6:131336076-131336083

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12525104	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12525986	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13437326	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17178878	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17179123	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17180687	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17180867	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17784418	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17784472	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17784896	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17785507	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2095961	0.91[ASN][1000 genomes]
rs28482889	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34899420	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs45550834	0.89[ASN][1000 genomes]
rs4895901	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4895903	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895904	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895906	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895907	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895908	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895909	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897477	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4897478	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4897484	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897485	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897486	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897487	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897489	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4897491	0.81[ASN][1000 genomes]
rs4897492	0.93[ASN][1000 genomes]
rs55898152	0.81[ASN][1000 genomes]
rs56163502	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56173113	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56201801	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58503799	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62422362	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62422365	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62422380	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62423581	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62423597	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62423598	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6906059	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6910656	0.91[ASN][1000 genomes]
rs6916024	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6922177	0.91[ASN][1000 genomes]
rs6928920	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6935108	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7755720	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7758016	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7761311	0.95[ASN][1000 genomes]
rs9321263	0.91[ASN][1000 genomes]
rs9372985	0.91[ASN][1000 genomes]
rs9388872	0.91[ASN][1000 genomes]
rs9483206	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs954211	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4897483	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131329800-131336400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr6:131329800-131347400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:131330400-131336400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:131332200-131345400	Weak transcription	Left Ventricle	heart
5	chr6:131332800-131339600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:131333600-131339200	Weak transcription	Pancreas	Pancrea
7	chr6:131333800-131337400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr6:131334000-131337000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:131334000-131337400	Enhancers	Fetal Kidney	kidney
10	chr6:131334400-131337200	Weak transcription	Small Intestine	intestine
11	chr6:131334400-131337400	Enhancers	HMEC	breast
12	chr6:131334600-131336600	Enhancers	Dnd41	blood
13	chr6:131334600-131338000	Enhancers	Fetal Stomach	stomach
14	chr6:131334600-131338200	Enhancers	HepG2	liver
15	chr6:131334600-131338200	Enhancers	Osteobl	bone
16	chr6:131334600-131339000	Enhancers	Rectal Smooth Muscle	rectum
17	chr6:131334800-131336600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:131334800-131336600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:131334800-131336800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:131334800-131336800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:131334800-131337400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:131334800-131337600	Enhancers	A549	lung
23	chr6:131334800-131342800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:131335000-131336800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:131335000-131337000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:131335000-131337200	Weak transcription	HSMMtube	muscle
27	chr6:131335000-131337800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:131335000-131338000	Enhancers	HSMM	muscle
29	chr6:131335200-131336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:131335200-131336400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:131335200-131336800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:131335200-131336800	Enhancers	Brain Cingulate Gyrus	brain
33	chr6:131335200-131336800	Enhancers	Brain Substantia Nigra	brain
34	chr6:131335200-131337200	Enhancers	NHLF	lung
35	chr6:131335200-131337800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr6:131335200-131337800	Enhancers	Adipose Nuclei	Adipose
37	chr6:131335200-131337800	Enhancers	Fetal Lung	lung
38	chr6:131335200-131338000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr6:131335200-131338000	Enhancers	Brain Hippocampus Middle	brain
40	chr6:131335200-131338000	Enhancers	NHDF-Ad	bronchial
41	chr6:131335200-131343200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr6:131335400-131336800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:131335400-131337000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr6:131335400-131337000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr6:131335400-131337000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:131335400-131337000	Weak transcription	NH-A	brain
47	chr6:131335400-131337200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:131335400-131338000	Enhancers	HUVEC	blood vessel
49	chr6:131335400-131338200	Enhancers	Colon Smooth Muscle	Colon
50	chr6:131335600-131338000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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