Variant report

Variant	rs1866757
Chromosome Location	chr4:144299908-144299909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4G	chr4:144299829-144300137	HepG2	liver:	n/a	n/a
2	KAP1	chr4:144299756-144300205	HEK293	kidney:	n/a	n/a
3	EP300	chr4:144299762-144299962	GM12878	blood:	n/a	n/a
4	NR2F2	chr4:144299650-144300215	MCF-7	breast:	n/a	n/a
5	JUND	chr4:144299662-144299943	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZZZ3	chr4:144299604-144299980	GM12878	blood:	n/a	n/a
7	ARID3A	chr4:144299837-144300048	HepG2	liver:	n/a	n/a
8	JUND	chr4:144299649-144299963	HepG2	liver:	n/a	n/a
9	FOXM1	chr4:144299547-144300083	GM12878	blood:	n/a	n/a
10	EP300	chr4:144299749-144299949	GM12878	blood:	n/a	n/a
11	RUNX3	chr4:144299594-144300103	GM12878	blood:	n/a	n/a
12	TBL1XR1	chr4:144299727-144299969	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:144299824-144299973	GM12878	blood:	n/a	n/a
14	NFIC	chr4:144298357-144300121	GM12878	blood:	n/a	n/a
15	CBX3	chr4:144299697-144300140	K562	blood:	n/a	n/a
16	UBTF	chr4:144299839-144300077	K562	blood:	n/a	n/a
17	USF1	chr4:144299886-144300027	HepG2	liver:	n/a	n/a
18	SMC3	chr4:144299870-144299955	GM12878	blood:	n/a	n/a
19	MTA3	chr4:144299582-144300146	GM12878	blood:	n/a	n/a
20	RXRA	chr4:144299738-144300119	HepG2	liver:	n/a	chr4:144299932-144299948

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:144254627..144258395-chr4:144297952..144301828,4	K562	blood:
2	chr4:144292852..144297100-chr4:144298409..144302941,5	K562	blood:
3	chr4:144299400..144301389-chr4:144302183..144304339,2	K562	blood:

No data

Variant related genes	Relation type
GAB1	TF binding region
ENSG00000109458	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10519681	1.00[AMR][1000 genomes]
rs28925883	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28989205	1.00[AMR][1000 genomes]
rs28989218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28989233	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55683567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55789823	1.00[AMR][1000 genomes]
rs55872942	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56372904	1.00[AMR][1000 genomes]
rs57024421	1.00[AMR][1000 genomes]
rs57336725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57368559	1.00[AMR][1000 genomes]
rs57674712	1.00[AMR][1000 genomes]
rs57743690	1.00[AMR][1000 genomes]
rs60891033	1.00[AMR][1000 genomes]
rs61193096	1.00[AMR][1000 genomes]
rs61288732	1.00[AMR][1000 genomes]
rs61681472	1.00[AMR][1000 genomes]
rs73850695	1.00[AMR][1000 genomes]
rs73850696	1.00[AMR][1000 genomes]
rs73850702	1.00[AMR][1000 genomes]
rs73853806	1.00[AMR][1000 genomes]
rs73853807	1.00[AMR][1000 genomes]
rs73853808	1.00[AMR][1000 genomes]
rs73853810	1.00[AMR][1000 genomes]
rs73853811	1.00[AMR][1000 genomes]
rs73853812	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853834	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7696614	1.00[AMR][1000 genomes]

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144283000-144302200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:144291800-144302200	Weak transcription	Esophagus	oesophagus
3	chr4:144293200-144302400	Enhancers	Brain Substantia Nigra	brain
4	chr4:144293600-144302000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:144294000-144302200	Weak transcription	Spleen	Spleen
6	chr4:144294000-144302400	Weak transcription	Gastric	stomach
7	chr4:144295000-144302800	Enhancers	Brain Cingulate Gyrus	brain
8	chr4:144295200-144301000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:144295200-144302400	Enhancers	Brain Anterior Caudate	brain
10	chr4:144295400-144300000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr4:144295400-144300200	Enhancers	Fetal Brain Male	brain
12	chr4:144295400-144301000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr4:144295400-144302000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:144295600-144300400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:144295600-144300800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:144295600-144302400	Enhancers	Rectal Smooth Muscle	rectum
17	chr4:144295600-144303000	Enhancers	Brain Angular Gyrus	brain
18	chr4:144296000-144302200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:144296200-144302400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:144296600-144300000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr4:144296600-144300200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:144296600-144300400	Enhancers	Adipose Nuclei	Adipose
23	chr4:144296600-144300600	Enhancers	Fetal Lung	lung
24	chr4:144296600-144301200	Enhancers	Primary B cells from peripheral blood	blood
25	chr4:144296800-144304600	Enhancers	Liver	Liver
26	chr4:144297000-144301600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:144297000-144302200	Weak transcription	Stomach Mucosa	stomach
28	chr4:144297000-144302600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:144297200-144300000	Weak transcription	HSMMtube	muscle
30	chr4:144297200-144302000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:144297200-144302200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:144297200-144302200	Weak transcription	HMEC	breast
33	chr4:144297200-144302400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:144297200-144302400	Enhancers	Brain Hippocampus Middle	brain
35	chr4:144297200-144302400	Weak transcription	Fetal Thymus	thymus
36	chr4:144297200-144305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:144297400-144301800	Weak transcription	Aorta	Aorta
38	chr4:144297400-144301800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:144297400-144302200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:144297400-144302400	Weak transcription	Brain Germinal Matrix	brain
41	chr4:144297800-144300800	Enhancers	K562	blood
42	chr4:144298000-144303600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr4:144298000-144305800	Enhancers	Fetal Stomach	stomach
44	chr4:144298200-144302000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:144298400-144300000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:144298600-144303200	Enhancers	Fetal Muscle Leg	muscle
47	chr4:144298800-144300400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:144298800-144301400	Enhancers	Ovary	ovary
49	chr4:144299000-144300200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:144299000-144301400	Enhancers	Right Ventricle	heart

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