Variant report

Variant	rs41276712
Chromosome Location	chr12:4918903-4918904
allele	G/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	POLR2A	chr12:4918424-4919200	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr12:4918836-4919422	H1-neurons	neurons:	n/a	n/a
3	ZNF263	chr12:4918731-4919282	HEK293-T-REx	kidney:	n/a	n/a
4	TAF1	chr12:4918259-4918973	H1-neurons	neurons:	n/a	n/a
5	YY1	chr12:4918678-4919039	H1-hESC	embryonic stem cell:	n/a	chr12:4918767-4918778
6	HMGN3	chr12:4918734-4918969	K562	blood:	n/a	n/a
7	ELF1	chr12:4918614-4919312	GM12878	blood:	n/a	chr12:4918643-4918655
8	REST	chr12:4917930-4919595	H1-neurons	neurons:	n/a	chr12:4918510-4918528 chr12:4919122-4919132 chr12:4918227-4918245
9	E2F6	chr12:4917856-4919684	H1-hESC	embryonic stem cell:	n/a	chr12:4918336-4918343 chr12:4918335-4918343 chr12:4918332-4918344 chr12:4918336-4918343 chr12:4918452-4918462 chr12:4918336-4918343 chr12:4918527-4918537 chr12:4918530-4918540

Variant related genes	Relation type
GALNT8	TF binding region
ENSG00000256988	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11063356	0.85[ASN][1000 genomes]
rs12306037	0.85[ASN][1000 genomes]
rs12321952	0.85[ASN][1000 genomes]
rs17177303	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17783805	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17783817	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17783823	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17783925	0.93[ASN][1000 genomes]
rs35250434	0.84[ASN][1000 genomes]
rs56021447	0.85[ASN][1000 genomes]
rs56748976	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56893870	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57928290	0.93[ASN][1000 genomes]
rs57945693	0.93[ASN][1000 genomes]
rs60191275	0.93[ASN][1000 genomes]

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4915600-4920000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:4917600-4926200	Enhancers	Fetal Brain Male	brain
3	chr12:4917800-4919400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:4917800-4919600	Active TSS	Fetal Brain Female	brain
5	chr12:4917800-4919800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:4917800-4919800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:4917800-4920000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr12:4917800-4920000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr12:4918000-4919000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:4918000-4919200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:4918000-4919400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
12	chr12:4918000-4919400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr12:4918000-4919600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr12:4918000-4919800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:4918000-4919800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:4918000-4920000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr12:4918000-4920000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:4918200-4919000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:4918200-4919000	Active TSS	Brain Cingulate Gyrus	brain
20	chr12:4918200-4919000	Active TSS	Rectal Smooth Muscle	rectum
21	chr12:4918200-4919000	Active TSS	Right Atrium	heart
22	chr12:4918200-4919000	Bivalent/Poised TSS	HSMMtube	muscle
23	chr12:4918200-4919200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:4918200-4919200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:4918200-4919200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr12:4918200-4919600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:4918200-4919600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:4918200-4919600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:4918200-4919600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:4918200-4919600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
31	chr12:4918200-4919600	Active TSS	Brain Angular Gyrus	brain
32	chr12:4918200-4919600	Active TSS	Brain Anterior Caudate	brain
33	chr12:4918200-4919600	Active TSS	Brain Germinal Matrix	brain
34	chr12:4918200-4919600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
35	chr12:4918200-4919600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr12:4918200-4919800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:4918200-4919800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:4918200-4919800	Bivalent Enhancer	Placenta	Placenta
39	chr12:4918400-4919000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:4918400-4919000	Bivalent/Poised TSS	Esophagus	oesophagus
41	chr12:4918400-4919000	Active TSS	Left Ventricle	heart
42	chr12:4918400-4919000	Bivalent Enhancer	Lung	lung
43	chr12:4918400-4919000	Active TSS	Ovary	ovary
44	chr12:4918400-4919200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:4918400-4919200	Active TSS	Aorta	Aorta
46	chr12:4918400-4919400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr12:4918400-4919400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:4918400-4919400	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr12:4918400-4919400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:4918400-4919400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood

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