Variant report

Variant	rs6784751
Chromosome Location	chr3:134095735-134095736
allele	A/G
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	chr3:134095665-134096253	Hela-S3	cervix:	n/a	chr3:134096039-134096053 chr3:134096042-134096051 chr3:134096038-134096054 chr3:134096038-134096054 chr3:134096041-134096050 chr3:134096040-134096050

No.	Distal block	Cell Line	Cell type
1	chr3:134091805..134100491-chr3:134198620..134206897,15	MCF-7	breast:
2	chr3:134024307..134037207-chr3:134080573..134100993,88	MCF-7	breast:
3	chr3:134095549..134098242-chr3:134203117..134205804,2	MCF-7	breast:

Variant related genes	Relation type
AMOTL2	TF binding region
ENSG00000240006	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000182923	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11919447	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11923513	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13071132	0.81[AMR][1000 genomes]
rs13078237	0.83[AMR][1000 genomes]
rs13084853	0.85[AMR][1000 genomes]
rs17312996	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17313003	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1991440	0.89[EUR][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	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134094000-134096000	Enhancers	Stomach Mucosa	stomach
2	chr3:134094000-134098000	Enhancers	Lung	lung
3	chr3:134094200-134096000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:134094200-134096000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:134094200-134098000	Enhancers	Esophagus	oesophagus
6	chr3:134094400-134096000	Enhancers	Pancreas	Pancrea
7	chr3:134094400-134096200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:134094400-134096200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr3:134094400-134096200	Enhancers	HMEC	breast
10	chr3:134094400-134096600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr3:134094400-134097000	Weak transcription	Brain Anterior Caudate	brain
12	chr3:134094400-134097200	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:134094400-134098000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:134094400-134098200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:134094400-134101400	Weak transcription	Aorta	Aorta
16	chr3:134094600-134095800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:134094600-134096000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:134094600-134096000	Enhancers	Colonic Mucosa	Colon
19	chr3:134094600-134096200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
20	chr3:134094600-134096200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr3:134094600-134096200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr3:134094600-134096400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:134094600-134096600	Weak transcription	Right Ventricle	heart
24	chr3:134094600-134096800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:134094600-134096800	Weak transcription	Brain Angular Gyrus	brain
26	chr3:134094600-134096800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr3:134094600-134097000	Weak transcription	Psoas Muscle	Psoas
28	chr3:134094600-134097000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr3:134094600-134097200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:134094600-134097200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr3:134094600-134097200	Weak transcription	Right Atrium	heart
32	chr3:134094600-134097400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
33	chr3:134094600-134097400	Enhancers	Fetal Intestine Large	intestine
34	chr3:134094600-134097400	Enhancers	Fetal Intestine Small	intestine
35	chr3:134094600-134098200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:134094600-134098200	Enhancers	NHEK	skin
37	chr3:134094600-134100200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr3:134094800-134096000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr3:134094800-134096000	Weak transcription	HUVEC	blood vessel
40	chr3:134094800-134096400	Weak transcription	Brain Substantia Nigra	brain
41	chr3:134094800-134096600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr3:134094800-134096800	Weak transcription	Brain Hippocampus Middle	brain
43	chr3:134094800-134096800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:134094800-134097000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr3:134094800-134097400	Enhancers	Duodenum Mucosa	Duodenum
46	chr3:134094800-134097400	Enhancers	Hela-S3	cervix
47	chr3:134094800-134101200	Weak transcription	Gastric	stomach
48	chr3:134095000-134096400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr3:134095000-134096600	Bivalent Enhancer	HepG2	liver
50	chr3:134095000-134096800	Weak transcription	Fetal Heart	heart

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