Variant report

Variant	rs62337524
Chromosome Location	chr4:144302987-144302988
allele	A/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	TAF1	chr4:144302824-144303205	SK-N-SH	brain:	n/a	n/a
2	KAP1	chr4:144302255-144303366	HEK293	kidney:	n/a	n/a
3	EP300	chr4:144302639-144303369	SK-N-SH	brain:	n/a	chr4:144303187-144303197
4	ATF1	chr4:144302947-144303235	K562	blood:	n/a	n/a
5	ZNF263	chr4:144302429-144303256	HEK293-T-REx	kidney:	n/a	chr4:144302980-144303001
6	FOS	chr4:144302895-144303331	MCF10A-Er-Src	breast:	n/a	n/a
7	NFIC	chr4:144302810-144303357	ECC-1	luminal epithelium:	n/a	n/a
8	RCOR1	chr4:144301722-144303436	IMR90	lung:	n/a	n/a
9	FOXA1	chr4:144302954-144303166	T-47D	breast:	n/a	n/a
10	KAP1	chr4:144302398-144303230	U2OS	brain:	n/a	n/a
11	SIN3AK20	chr4:144302836-144303198	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr4:144302883-144303145	K562	blood:	n/a	n/a
13	POLR2A	chr4:144302792-144303295	U87	brain:	n/a	n/a
14	STAT3	chr4:144302919-144303173	MCF10A-Er-Src	breast:	n/a	n/a
15	TCF12	chr4:144302695-144303501	SK-N-SH	brain:	n/a	n/a
16	NFIC	chr4:144302779-144303360	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr4:144302729-144303413	SK-N-SH	brain:	n/a	n/a
18	TAF1	chr4:144302855-144303233	PFSK-1	brain:	n/a	n/a
19	EP300	chr4:144302564-144303282	SK-N-SH_RA	brain:	n/a	chr4:144303187-144303197
20	MAX	chr4:144302770-144303345	SK-N-SH	brain:	n/a	n/a
21	NFIC	chr4:144302636-144303459	SK-N-SH	brain:	n/a	n/a
22	EP300	chr4:144302814-144303220	SK-N-SH_RA	brain:	n/a	chr4:144303187-144303197
23	CEBPB	chr4:144302952-144303232	IMR90	lung:	n/a	n/a
24	YY1	chr4:144302822-144303209	SK-N-SH_RA	brain:	n/a	n/a
25	FOS	chr4:144302920-144303247	MCF10A-Er-Src	breast:	n/a	n/a
26	JUND	chr4:144302931-144303159	K562	blood:	n/a	n/a
27	YY1	chr4:144302765-144303247	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr4:144302963-144303115	K562	blood:	n/a	n/a
29	NFIC	chr4:144302306-144303310	GM12878	blood:	n/a	n/a
30	MAX	chr4:144302801-144303320	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr4:144302790-144303272	SK-N-SH	brain:	n/a	n/a
32	PBX3	chr4:144302757-144303414	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr4:144302356-144303458	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr4:144302486-144303501	SK-N-SH	brain:	n/a	n/a
35	RUNX3	chr4:144302348-144303296	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:144302495-144303334	IMR90	lung:	n/a	n/a
37	POLR2A	chr4:144302909-144303221	SK-N-SH	brain:	n/a	n/a
38	RAD21	chr4:144302856-144303225	SK-N-SH_RA	brain:	n/a	n/a
39	JUN	chr4:144302896-144303289	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
GAB1	TF binding region

rs_ID	r²[population]
rs2323011	1.00[EUR][1000 genomes]
rs28989210	1.00[AFR][1000 genomes]
rs28989215	1.00[EUR][1000 genomes]
rs28989221	1.00[EUR][1000 genomes]
rs28989224	1.00[EUR][1000 genomes]
rs28989225	1.00[EUR][1000 genomes]
rs28989230	1.00[EUR][1000 genomes]
rs62337484	1.00[AFR][1000 genomes]
rs62337486	0.89[EUR][1000 genomes]
rs62337489	0.89[EUR][1000 genomes]
rs62337511	0.89[EUR][1000 genomes]
rs62337512	0.80[EUR][1000 genomes]
rs62337513	0.89[EUR][1000 genomes]
rs62337514	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62337515	1.00[EUR][1000 genomes]
rs62337516	1.00[EUR][1000 genomes]
rs62337517	1.00[EUR][1000 genomes]
rs62337518	1.00[EUR][1000 genomes]
rs62337519	1.00[EUR][1000 genomes]
rs62337521	1.00[AFR][1000 genomes]
rs62337523	1.00[AFR][1000 genomes]
rs62337525	1.00[EUR][1000 genomes]
rs62337526	1.00[EUR][1000 genomes]
rs62337527	1.00[EUR][1000 genomes]
rs62337528	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337529	1.00[EUR][1000 genomes]
rs62337530	1.00[EUR][1000 genomes]
rs62337531	1.00[EUR][1000 genomes]
rs62337532	1.00[EUR][1000 genomes]
rs6828635	1.00[EUR][1000 genomes]
rs745164	0.89[EUR][1000 genomes]

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144295600-144303000	Enhancers	Brain Angular Gyrus	brain
2	chr4:144296800-144304600	Enhancers	Liver	Liver
3	chr4:144297200-144305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:144298000-144303600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:144298000-144305800	Enhancers	Fetal Stomach	stomach
6	chr4:144298600-144303200	Enhancers	Fetal Muscle Leg	muscle
7	chr4:144299000-144303400	Enhancers	HepG2	liver
8	chr4:144299000-144304600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:144299400-144303000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:144299400-144303400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:144299600-144303000	Enhancers	Primary B cells from cord blood	blood
12	chr4:144299600-144303800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr4:144300200-144307000	Enhancers	Colon Smooth Muscle	Colon
14	chr4:144301000-144304000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:144301000-144305000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr4:144301200-144305200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:144301600-144303200	Enhancers	Right Atrium	heart
18	chr4:144301600-144303600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr4:144301600-144304600	Enhancers	Duodenum Mucosa	Duodenum
20	chr4:144301600-144304600	Enhancers	GM12878-XiMat	blood
21	chr4:144301600-144307800	Enhancers	Primary B cells from peripheral blood	blood
22	chr4:144301800-144303000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:144301800-144303200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:144301800-144303200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr4:144301800-144303200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:144301800-144303400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr4:144301800-144303600	Enhancers	Ovary	ovary
28	chr4:144301800-144304000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:144301800-144304400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr4:144301800-144304400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:144301800-144304400	Enhancers	Fetal Kidney	kidney
32	chr4:144301800-144304600	Enhancers	Fetal Intestine Large	intestine
33	chr4:144301800-144306000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr4:144302000-144303000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:144302000-144303000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:144302000-144303200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:144302000-144303400	Enhancers	NHLF	lung
38	chr4:144302000-144303600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:144302000-144303800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr4:144302000-144304000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:144302000-144304000	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:144302000-144304600	Enhancers	K562	blood
43	chr4:144302000-144305800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr4:144302200-144303000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:144302200-144303000	Enhancers	HUVEC	blood vessel
46	chr4:144302200-144303200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:144302200-144303200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:144302200-144303200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:144302200-144303200	Enhancers	Adipose Nuclei	Adipose
50	chr4:144302200-144303200	Enhancers	Osteobl	bone

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