Variant report

Variant	rs11171792
Chromosome Location	chr12:56683957-56683958
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	POLR2A	chr12:56683790-56684019	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:56683725..56686295-chr12:56708413..56711087,2	MCF-7	breast:
2	chr12:56673715..56677406-chr12:56679436..56684365,5	K562	blood:
3	chr12:56683757..56687058-chr12:56862106..56864198,3	K562	blood:
4	chr12:56683535..56686105-chr12:56701101..56703169,2	K562	blood:

Variant related genes	Relation type
CS	TF binding region
ENSG00000135517	Chromatin interaction
ENSG00000176422	Chromatin interaction
ENSG00000257740	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000062485	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10783780	0.87[AFR][1000 genomes]
rs12422499	0.87[AFR][1000 genomes]
rs3809129	0.87[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	chr12:56662800-56686400	Strong transcription	Fetal Stomach	stomach
8	chr12:56663000-56692600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:56663200-56685600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:56663400-56687000	Strong transcription	Fetal Intestine Small	intestine
11	chr12:56663600-56684600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:56663800-56684400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:56663800-56685600	Strong transcription	Fetal Intestine Large	intestine
14	chr12:56663800-56685800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:56667400-56685400	Weak transcription	Fetal Heart	heart
16	chr12:56667800-56685400	Weak transcription	Stomach Mucosa	stomach
17	chr12:56669600-56692800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:56676600-56693000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:56676800-56693200	Weak transcription	Aorta	Aorta
20	chr12:56677200-56692400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:56677800-56693200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr12:56679800-56684800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:56679800-56685000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:56679800-56685200	Weak transcription	Brain Substantia Nigra	brain
25	chr12:56679800-56685200	Weak transcription	Colonic Mucosa	Colon
26	chr12:56679800-56685200	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:56679800-56685200	Weak transcription	Gastric	stomach
28	chr12:56679800-56685200	Weak transcription	NHLF	lung
29	chr12:56680000-56684400	Weak transcription	Hela-S3	cervix
30	chr12:56680000-56684600	Weak transcription	Fetal Lung	lung
31	chr12:56680000-56684800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:56680000-56685000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr12:56680000-56685200	Weak transcription	Brain Anterior Caudate	brain
34	chr12:56680000-56685200	Weak transcription	Spleen	Spleen
35	chr12:56680000-56685800	Weak transcription	Psoas Muscle	Psoas
36	chr12:56680000-56691600	Weak transcription	Brain Angular Gyrus	brain
37	chr12:56680000-56693200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr12:56680200-56684200	Weak transcription	Fetal Kidney	kidney
39	chr12:56680200-56684600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:56680200-56685000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:56680200-56692200	Weak transcription	NHDF-Ad	bronchial
42	chr12:56680600-56684200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:56680600-56684200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr12:56680600-56684600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:56680600-56684600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:56680600-56685000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:56680600-56687000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr12:56680800-56684200	Weak transcription	Brain Germinal Matrix	brain
49	chr12:56680800-56684200	Weak transcription	Placenta	Placenta
50	chr12:56680800-56684200	Weak transcription	Rectal Mucosa Donor 29	rectum

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