Variant report

Variant	rs831610
Chromosome Location	chr11:33719536-33719537
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	EBF1	chr11:33719531-33719916	GM12878	blood:	n/a	n/a
2	EBF1	chr11:33719525-33719902	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:33719532-33720357	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33278338..33280021-chr11:33719224..33721244,2	K562	blood:
2	chr11:33181371..33183900-chr11:33718625..33721294,2	K562	blood:
3	chr11:33718280..33720343-chr11:33720792..33722405,2	K562	blood:
4	chr11:33718791..33721671-chr11:33742848..33744995,2	K562	blood:

Variant related genes	Relation type
ENSG00000255202	TF binding region
ENSG00000110422	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000247151	Chromatin interaction
ENSG00000176102	Chromatin interaction
ENSG00000205177	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs831614	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs831610	CD59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33709200-33721800	Enhancers	HMEC	breast
2	chr11:33709400-33719800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:33709600-33722200	Enhancers	Stomach Mucosa	stomach
4	chr11:33711800-33720400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:33712000-33720200	Enhancers	Right Ventricle	heart
6	chr11:33713400-33720800	Weak transcription	Spleen	Spleen
7	chr11:33713400-33721800	Enhancers	NHEK	skin
8	chr11:33713800-33719600	Enhancers	Brain Germinal Matrix	brain
9	chr11:33713800-33720200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:33713800-33720800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:33714000-33721600	Weak transcription	Aorta	Aorta
12	chr11:33714400-33719800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:33714600-33721000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:33714600-33721600	Weak transcription	Brain Substantia Nigra	brain
15	chr11:33714800-33719600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:33714800-33720800	Weak transcription	Ovary	ovary
17	chr11:33714800-33721200	Weak transcription	Fetal Intestine Large	intestine
18	chr11:33715000-33720000	Weak transcription	Fetal Heart	heart
19	chr11:33715400-33719600	Weak transcription	Fetal Lung	lung
20	chr11:33715600-33720800	Enhancers	HepG2	liver
21	chr11:33716400-33721200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:33716600-33721600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:33716800-33721200	Weak transcription	NHLF	lung
24	chr11:33716800-33721600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr11:33717000-33720200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:33717200-33720800	Weak transcription	HSMM	muscle
27	chr11:33717200-33721200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:33717200-33721200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:33717200-33721400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:33717200-33721600	Weak transcription	Brain Angular Gyrus	brain
31	chr11:33717400-33719600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:33717400-33719600	Weak transcription	HUVEC	blood vessel
33	chr11:33717400-33719800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:33717400-33720800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:33717400-33720800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr11:33717400-33721000	Weak transcription	Hela-S3	cervix
37	chr11:33717400-33721400	Weak transcription	Liver	Liver
38	chr11:33717800-33719600	Weak transcription	NH-A	brain
39	chr11:33717800-33720800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr11:33717800-33721400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:33717800-33721800	Enhancers	Placenta	Placenta
42	chr11:33718000-33720000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr11:33718000-33720200	Enhancers	Psoas Muscle	Psoas
44	chr11:33718000-33721400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:33718000-33721600	Enhancers	Gastric	stomach
46	chr11:33718000-33722200	Weak transcription	Fetal Kidney	kidney
47	chr11:33718200-33719600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:33718200-33721200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr11:33718200-33721200	Weak transcription	Fetal Brain Male	brain
50	chr11:33718200-33721400	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links