Variant report

Variant	rs1920413
Chromosome Location	chr12:104326991-104326992
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr12:104326990-104327417	K562	blood:	n/a	chr12:104327250-104327265 chr12:104327232-104327247
2	TEAD4	chr12:104322407-104327510	K562	blood:	n/a	n/a
3	POLR2A	chr12:104326988-104327293	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:104326884-104327286	GM12891	blood:	n/a	n/a
5	POLR2A	chr12:104323989-104328526	K562	blood:	n/a	n/a
6	TBL1XR1	chr12:104326903-104327022	K562	blood:	n/a	n/a
7	PML	chr12:104323762-104328552	K562	blood:	n/a	n/a
8	NFYB	chr12:104326775-104327599	GM12878	blood:	n/a	chr12:104327250-104327265 chr12:104327232-104327247
9	POLR2A	chr12:104326379-104328483	GM12891	blood:	n/a	n/a
10	POLR2A	chr12:104326974-104328438	HepG2	liver:	n/a	n/a
11	POLR2A	chr12:104322047-104327304	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:104322411-104328493	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr12:104326641-104327348	K562	blood:	n/a	n/a
14	POLR2A	chr12:104326779-104327419	GM12878	blood:	n/a	n/a
15	HEY1	chr12:104326768-104327368	K562	blood:	n/a	n/a
16	POLR2A	chr12:104323743-104328568	K562	blood:	n/a	n/a
17	POLR2A	chr12:104326663-104327358	GM12892	blood:	n/a	n/a
18	POLR2A	chr12:104321950-104327416	GM12878	blood:	n/a	n/a
19	POLR2A	chr12:104326306-104328554	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:104324071-104347835	K562	blood:	n/a	n/a
21	POLR2A	chr12:104322522-104327427	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr12:104326733-104327412	K562	blood:	n/a	n/a
23	POLR2A	chr12:104326866-104327453	PANC-1	pancreas:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
2	chr12:104233909..104239694-chr12:104322835..104327398,8	K562	blood:
3	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
4	chr12:104276555..104279337-chr12:104325468..104328815,4	K562	blood:
5	chr12:104323659..104328405-chr12:104357607..104360751,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214198	TF binding region
ENSG00000111696	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000257327	Chromatin interaction
ENSG00000139372	Chromatin interaction

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

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

rs_ID	r²[population]
rs1165682	0.80[EUR][1000 genomes]
rs1183212	0.80[EUR][1000 genomes]
rs2722188	0.82[CEU][hapmap]

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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr12:104322400-104327000	Active TSS	Right Atrium	heart
2	chr12:104322600-104327000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:104322600-104327200	Active TSS	Aorta	Aorta
4	chr12:104324600-104327200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:104324800-104327400	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr12:104325000-104327400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:104325000-104327400	Transcr. at gene 5' and 3'	A549	lung
8	chr12:104325000-104327400	Transcr. at gene 5' and 3'	K562	blood
9	chr12:104325000-104329200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:104325000-104331000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
11	chr12:104325200-104327000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
12	chr12:104325200-104327000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr12:104325200-104327000	Transcr. at gene 5' and 3'	HMEC	breast
14	chr12:104325200-104327200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
15	chr12:104325200-104327200	Transcr. at gene 5' and 3'	Liver	Liver
16	chr12:104325200-104327200	Transcr. at gene 5' and 3'	HSMM	muscle
17	chr12:104325200-104327200	Transcr. at gene 5' and 3'	Osteobl	bone
18	chr12:104325200-104327400	Transcr. at gene 5' and 3'	NHEK	skin
19	chr12:104325200-104330000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:104325200-104330200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:104325400-104327000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:104325400-104327000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:104325400-104327000	Weak transcription	Spleen	Spleen
24	chr12:104325400-104327200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
25	chr12:104325400-104327200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:104325400-104327200	Transcr. at gene 5' and 3'	NH-A	brain
27	chr12:104325400-104327400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
28	chr12:104325400-104327600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:104325400-104327600	Weak transcription	Gastric	stomach
30	chr12:104325600-104327000	Weak transcription	Esophagus	oesophagus
31	chr12:104325600-104327200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:104325600-104327200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:104325600-104327600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:104325600-104327600	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr12:104325600-104327600	Weak transcription	Lung	lung
36	chr12:104325600-104327600	Weak transcription	Pancreas	Pancrea
37	chr12:104325600-104327800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:104325600-104331000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:104325600-104348600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:104325600-104349800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:104325800-104327200	Genic enhancers	Primary hematopoietic stem cells	blood
42	chr12:104325800-104327200	Flanking Active TSS	Brain Anterior Caudate	brain
43	chr12:104325800-104327200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
44	chr12:104325800-104327800	Genic enhancers	Primary B cells from cord blood	blood
45	chr12:104325800-104329000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:104325800-104333400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr12:104325800-104335200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:104325800-104348600	Strong transcription	Placenta	Placenta
49	chr12:104326000-104327000	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
50	chr12:104326000-104327000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial

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