Variant report

Variant	rs28478042
Chromosome Location	chr4:144302378-144302379
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:144302296-144302703	H1-hESC	embryonic stem cell:	n/a	n/a
2	KAP1	chr4:144302255-144303366	HEK293	kidney:	n/a	n/a
3	MAX	chr4:144302342-144302687	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr4:144301722-144303436	IMR90	lung:	n/a	n/a
5	MAX	chr4:144302288-144302744	SK-N-SH	brain:	n/a	n/a
6	E2F6	chr4:144302337-144302709	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF2	chr4:144302081-144302604	GM12878	blood:	n/a	n/a
8	MAX	chr4:144302365-144302664	K562	blood:	n/a	n/a
9	MAFK	chr4:144301962-144302414	HepG2	liver:	n/a	n/a
10	MAX	chr4:144302332-144302721	SK-N-SH	brain:	n/a	n/a
11	MAX	chr4:144302261-144302645	H1-hESC	embryonic stem cell:	n/a	n/a
12	NFIC	chr4:144302306-144303310	GM12878	blood:	n/a	n/a
13	GATA3	chr4:144302356-144303458	SK-N-SH	brain:	n/a	n/a
14	RUNX3	chr4:144302348-144303296	GM12878	blood:	n/a	n/a
15	MAX	chr4:144302315-144302645	GM12878	blood:	n/a	n/a
16	E2F6	chr4:144302185-144302664	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144292852..144297100-chr4:144298409..144302941,5	K562	blood:

No data

Variant related genes	Relation type
GAB1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10003936	1.00[EUR][1000 genomes]
rs10007068	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10008314	1.00[EUR][1000 genomes]
rs10017771	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10021800	1.00[EUR][1000 genomes]
rs10022882	1.00[EUR][1000 genomes]
rs10023498	1.00[EUR][1000 genomes]
rs10050163	1.00[EUR][1000 genomes]
rs13116594	0.85[AFR][1000 genomes]
rs28375333	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28410377	0.87[AFR][1000 genomes]
rs28412476	1.00[EUR][1000 genomes]
rs28507672	1.00[EUR][1000 genomes]
rs28514400	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28562579	1.00[EUR][1000 genomes]
rs28565503	1.00[EUR][1000 genomes]
rs28655338	1.00[EUR][1000 genomes]
rs28684892	1.00[EUR][1000 genomes]
rs28689042	1.00[EUR][1000 genomes]
rs28704746	1.00[EUR][1000 genomes]
rs300922	1.00[EUR][1000 genomes]
rs3196542	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6822036	1.00[EUR][1000 genomes]
rs6825700	1.00[EUR][1000 genomes]
rs6845309	1.00[EUR][1000 genomes]
rs6846288	1.00[EUR][1000 genomes]
rs9991495	0.87[AFR][1000 genomes]
rs9992969	1.00[EUR][1000 genomes]
rs9996641	1.00[EUR][1000 genomes]

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144293200-144302400	Enhancers	Brain Substantia Nigra	brain
2	chr4:144294000-144302400	Weak transcription	Gastric	stomach
3	chr4:144295000-144302800	Enhancers	Brain Cingulate Gyrus	brain
4	chr4:144295200-144302400	Enhancers	Brain Anterior Caudate	brain
5	chr4:144295600-144302400	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:144295600-144303000	Enhancers	Brain Angular Gyrus	brain
7	chr4:144296200-144302400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:144296800-144304600	Enhancers	Liver	Liver
9	chr4:144297000-144302600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:144297200-144302400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:144297200-144302400	Enhancers	Brain Hippocampus Middle	brain
12	chr4:144297200-144302400	Weak transcription	Fetal Thymus	thymus
13	chr4:144297200-144305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:144297400-144302400	Weak transcription	Brain Germinal Matrix	brain
15	chr4:144298000-144303600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:144298000-144305800	Enhancers	Fetal Stomach	stomach
17	chr4:144298600-144303200	Enhancers	Fetal Muscle Leg	muscle
18	chr4:144299000-144303400	Enhancers	HepG2	liver
19	chr4:144299000-144304600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:144299400-144303000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr4:144299400-144303400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr4:144299600-144303000	Enhancers	Primary B cells from cord blood	blood
23	chr4:144299600-144303800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr4:144299800-144302600	Enhancers	Fetal Heart	heart
25	chr4:144300200-144302400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:144300200-144302400	Weak transcription	Placenta	Placenta
27	chr4:144300200-144302400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr4:144300200-144302400	Enhancers	Stomach Smooth Muscle	stomach
29	chr4:144300200-144302600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:144300200-144302600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:144300200-144307000	Enhancers	Colon Smooth Muscle	Colon
32	chr4:144300400-144302400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:144300400-144302400	Weak transcription	HSMMtube	muscle
34	chr4:144300400-144302600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:144300400-144302800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr4:144300800-144302600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:144301000-144302400	Weak transcription	Pancreas	Pancrea
38	chr4:144301000-144304000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:144301000-144305000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr4:144301200-144302800	Weak transcription	HSMM	muscle
41	chr4:144301200-144305200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:144301600-144302600	Enhancers	Fetal Lung	lung
43	chr4:144301600-144302800	Enhancers	Left Ventricle	heart
44	chr4:144301600-144303200	Enhancers	Right Atrium	heart
45	chr4:144301600-144303600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr4:144301600-144304600	Enhancers	Duodenum Mucosa	Duodenum
47	chr4:144301600-144304600	Enhancers	GM12878-XiMat	blood
48	chr4:144301600-144307800	Enhancers	Primary B cells from peripheral blood	blood
49	chr4:144301800-144302400	Enhancers	Fetal Intestine Small	intestine
50	chr4:144301800-144302600	Enhancers	Aorta	Aorta

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