Variant report

Variant	rs11171791
Chromosome Location	chr12:56682816-56682817
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	SPI1	chr12:56682665-56683155	HL-60	blood:	n/a	n/a
2	MAX	chr12:56682814-56682877	NB4	blood:	n/a	n/a
3	SRF	chr12:56682787-56683095	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:56682608-56683212	PFSK-1	brain:	n/a	n/a
5	FOXA1	chr12:56682744-56683141	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56681416..56683547-chr12:56708632..56711089,2	K562	blood:
2	chr12:56673715..56677406-chr12:56679436..56684365,5	K562	blood:
3	chr12:56675325..56676889-chr12:56680941..56683928,2	K562	blood:

Variant related genes	Relation type
CS	TF binding region
ENSG00000144785	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000257727	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4759016	0.82[AFR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56661400-56684400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:56662000-56690000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:56662400-56692400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:56662600-56685400	Strong transcription	Fetal Thymus	thymus
5	chr12:56662600-56686000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:56662600-56690000	Strong transcription	Fetal Muscle Leg	muscle
7	chr12:56662800-56683200	Strong transcription	Dnd41	blood
8	chr12:56662800-56686400	Strong transcription	Fetal Stomach	stomach
9	chr12:56663000-56692600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:56663200-56685600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:56663400-56687000	Strong transcription	Fetal Intestine Small	intestine
12	chr12:56663600-56684600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:56663800-56684400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:56663800-56685600	Strong transcription	Fetal Intestine Large	intestine
15	chr12:56663800-56685800	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:56667400-56685400	Weak transcription	Fetal Heart	heart
17	chr12:56667800-56685400	Weak transcription	Stomach Mucosa	stomach
18	chr12:56669600-56692800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:56676600-56693000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:56676800-56693200	Weak transcription	Aorta	Aorta
21	chr12:56677200-56692400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:56677800-56693200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:56679200-56683000	Strong transcription	NHEK	skin
24	chr12:56679800-56684800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:56679800-56685000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:56679800-56685200	Weak transcription	Brain Substantia Nigra	brain
27	chr12:56679800-56685200	Weak transcription	Colonic Mucosa	Colon
28	chr12:56679800-56685200	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:56679800-56685200	Weak transcription	Gastric	stomach
30	chr12:56679800-56685200	Weak transcription	NHLF	lung
31	chr12:56680000-56683200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr12:56680000-56684400	Weak transcription	Hela-S3	cervix
33	chr12:56680000-56684600	Weak transcription	Fetal Lung	lung
34	chr12:56680000-56684800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:56680000-56685000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:56680000-56685200	Weak transcription	Brain Anterior Caudate	brain
37	chr12:56680000-56685200	Weak transcription	Spleen	Spleen
38	chr12:56680000-56685800	Weak transcription	Psoas Muscle	Psoas
39	chr12:56680000-56691600	Weak transcription	Brain Angular Gyrus	brain
40	chr12:56680000-56693200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr12:56680200-56683000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr12:56680200-56684200	Weak transcription	Fetal Kidney	kidney
43	chr12:56680200-56684600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:56680200-56685000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:56680200-56692200	Weak transcription	NHDF-Ad	bronchial
46	chr12:56680600-56683400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:56680600-56684200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:56680600-56684200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:56680600-56684600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:56680600-56684600	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links