Variant report

Variant	rs11780771
Chromosome Location	chr8:125738233-125738234
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125734815..125743876-chr8:125864194..125871100,21	MCF-7	breast:
2	chr8:125736316..125742243-chr8:125861977..125870763,24	MCF-7	breast:
3	chr8:125737801..125739852-chr8:125873745..125876555,2	MCF-7	breast:
4	chr8:125605731..125607581-chr8:125735892..125738512,2	MCF-7	breast:
5	chr8:125737610..125739305-chr8:125935041..125936937,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255080	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13270040	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13270049	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs733759	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs891540	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv612147	chr8:125733120-125751065	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	esv1218364	chr8:125738232-125738233	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125731400-125738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125733000-125738800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:125733200-125738400	Weak transcription	K562	blood
4	chr8:125734200-125738400	Weak transcription	Esophagus	oesophagus
5	chr8:125735000-125738400	Weak transcription	Stomach Mucosa	stomach
6	chr8:125736000-125738400	Enhancers	Fetal Intestine Small	intestine
7	chr8:125736800-125738800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:125737000-125738800	Active TSS	Brain Germinal Matrix	brain
9	chr8:125737000-125739000	Flanking Active TSS	HUVEC	blood vessel
10	chr8:125737200-125738400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:125737200-125738400	Weak transcription	Gastric	stomach
12	chr8:125737200-125741400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr8:125737200-125741600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:125737400-125738400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:125737400-125738400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
16	chr8:125737400-125738400	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:125737400-125738400	Weak transcription	Left Ventricle	heart
18	chr8:125737400-125738400	Weak transcription	Lung	lung
19	chr8:125737400-125738400	Weak transcription	Spleen	Spleen
20	chr8:125737400-125738400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
21	chr8:125737400-125738800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:125737400-125738800	Active TSS	HepG2	liver
23	chr8:125737400-125739000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:125737400-125739600	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr8:125737600-125738400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:125737600-125738400	Enhancers	Fetal Lung	lung
27	chr8:125737600-125738400	Active TSS	Psoas Muscle	Psoas
28	chr8:125737600-125738400	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr8:125737600-125738600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr8:125737600-125738800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:125737600-125739400	Active TSS	Fetal Brain Female	brain
32	chr8:125737800-125740600	Active TSS	Fetal Brain Male	brain
33	chr8:125737800-125741200	Active TSS	Right Atrium	heart
34	chr8:125738000-125738400	Active TSS	Liver	Liver
35	chr8:125738000-125738400	Active TSS	Brain Anterior Caudate	brain
36	chr8:125738000-125738400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr8:125738000-125738400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr8:125738000-125738400	Active TSS	Rectal Smooth Muscle	rectum
39	chr8:125738000-125738600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:125738000-125738600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:125738000-125739000	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr8:125738000-125740800	Active TSS	HMEC	breast
43	chr8:125738000-125741400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr8:125738200-125738400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:125738200-125738400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:125738200-125738400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:125738200-125738400	Flanking Active TSS	Fetal Kidney	kidney
48	chr8:125738200-125738400	Bivalent/Poised TSS	Fetal Stomach	stomach
49	chr8:125738200-125738400	Active TSS	Ovary	ovary
50	chr8:125738200-125738400	Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links