Variant report

Variant	rs1871557
Chromosome Location	chr12:26277129-26277130
allele	C/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	chr12:26276625-26277142	H1-neurons	neurons:	n/a	n/a
2	SUZ12	chr12:26274316-26278522	NT2-D1	testis:	n/a	n/a
3	STAT3	chr12:26276992-26277147	MCF10A-Er-Src	breast:	n/a	n/a
4	RAD21	chr12:26275586-26278060	SK-N-SH	brain:	n/a	chr12:26276507-26276520
5	TCF12	chr12:26275661-26277174	SK-N-SH	brain:	n/a	chr12:26276761-26276770 chr12:26276276-26276283
6	POLR2A	chr12:26275569-26280099	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr12:26274089-26279927	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26274388..26277209-chr12:26277264..26280315,5	K562	blood:
2	chr12:26275273..26277209-chr12:26278660..26280315,2	K562	blood:

Variant related genes	Relation type
BHLHE41	TF binding region
ENSG00000256894	Chromatin interaction
ENSG00000123095	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11048402	1.00[AFR][1000 genomes]
rs1480037	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17366300	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17366955	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17367221	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17380333	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17380416	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17463675	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17464133	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17464383	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4963958	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4963960	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4963962	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4963965	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4963966	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4963970	0.81[EUR][1000 genomes]
rs7358598	0.87[EUR][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	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26272200-26280000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:26273000-26280000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr12:26273400-26280000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr12:26273400-26280000	Active TSS	Right Atrium	heart
5	chr12:26273600-26279800	Active TSS	Psoas Muscle	Psoas
6	chr12:26273600-26280000	Active TSS	Brain Substantia Nigra	brain
7	chr12:26274000-26280000	Active TSS	Brain Angular Gyrus	brain
8	chr12:26274200-26279600	Active TSS	Colon Smooth Muscle	Colon
9	chr12:26274400-26279800	Active TSS	NHDF-Ad	bronchial
10	chr12:26274400-26280200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:26274600-26280000	Active TSS	Aorta	Aorta
12	chr12:26274600-26280000	Active TSS	Right Ventricle	heart
13	chr12:26274600-26280000	Active TSS	HSMM	muscle
14	chr12:26274800-26277200	Active TSS	Rectal Mucosa Donor 31	rectum
15	chr12:26274800-26279800	Active TSS	Left Ventricle	heart
16	chr12:26274800-26280000	Active TSS	Ovary	ovary
17	chr12:26275000-26279800	Active TSS	Brain Anterior Caudate	brain
18	chr12:26275000-26279800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
19	chr12:26275000-26280000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:26275000-26280000	Active TSS	Brain Cingulate Gyrus	brain
21	chr12:26275000-26280400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:26275600-26278800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:26276000-26277600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
24	chr12:26276000-26278000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr12:26276000-26278000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
26	chr12:26276200-26277200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:26276200-26277200	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr12:26276200-26277400	Bivalent Enhancer	Liver	Liver
29	chr12:26276200-26277400	Active TSS	Colonic Mucosa	Colon
30	chr12:26276200-26277600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr12:26276200-26277600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:26276200-26277600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
33	chr12:26276200-26277600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr12:26276200-26278200	Bivalent/Poised TSS	Thymus	Thymus
35	chr12:26276400-26277400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:26276400-26277400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
37	chr12:26276400-26277600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
38	chr12:26276400-26277800	Weak transcription	Spleen	Spleen
39	chr12:26276600-26277200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
40	chr12:26276600-26277400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:26276600-26277400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:26276600-26277400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:26276600-26277400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr12:26276600-26277400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr12:26276600-26277400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr12:26276600-26277400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:26276600-26277400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:26276600-26277400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:26276600-26277400	Active TSS	Placenta	Placenta
50	chr12:26276600-26277400	Bivalent Enhancer	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links