Variant report

Variant	rs28514400
Chromosome Location	chr4:144311200-144311201
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	ARID3A	chr4:144310697-144311324	HepG2	liver:	n/a	n/a
2	FOS	chr4:144310716-144311337	MCF10A-Er-Src	breast:	n/a	chr4:144311080-144311094
3	MYC	chr4:144310966-144311235	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr4:144310828-144311321	HepG2	liver:	n/a	n/a
5	E2F4	chr4:144310741-144311253	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr4:144310756-144311341	IMR90	lung:	n/a	n/a
7	CEBPB	chr4:144310976-144311334	Hela-S3	cervix:	n/a	n/a
8	FOXA2	chr4:144310526-144311551	HepG2	liver:	n/a	chr4:144311189-144311201
9	STAT3	chr4:144310947-144311284	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr4:144310739-144311323	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr4:144310713-144311337	MCF10A-Er-Src	breast:	n/a	chr4:144311080-144311094
12	STAT3	chr4:144310822-144311292	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr4:144310739-144311292	MCF10A-Er-Src	breast:	n/a	chr4:144311080-144311094
14	STAT3	chr4:144310810-144311405	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr4:144310514-144311243	SK-N-SH	brain:	n/a	chr4:144310680-144310690 chr4:144310680-144310689 chr4:144310675-144310696 chr4:144310682-144310689
16	TEAD4	chr4:144310510-144311203	HepG2	liver:	n/a	n/a
17	FOS	chr4:144310702-144311350	MCF10A-Er-Src	breast:	n/a	chr4:144311080-144311094
18	JUND	chr4:144310653-144311212	T-47D	breast:	n/a	chr4:144311080-144311094
19	GATA3	chr4:144310538-144311203	T-47D	breast:	n/a	chr4:144310680-144310690 chr4:144310680-144310689 chr4:144310675-144310696 chr4:144310682-144310689
20	CEBPB	chr4:144311000-144311305	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144305860..144307696-chr4:144310881..144312432,2	MCF-7	breast:
2	chr4:144308580..144312274-chr4:144317112..144320354,4	K562	blood:

Variant related genes	Relation type
GAB1	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10003936	1.00[EUR][1000 genomes]
rs10007068	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10008314	1.00[EUR][1000 genomes]
rs10017771	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]
rs28375333	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412476	1.00[EUR][1000 genomes]
rs28478042	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28507672	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	0.87[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]
rs72949178	0.86[AFR][1000 genomes]
rs9992969	1.00[EUR][1000 genomes]
rs9996641	1.00[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144302800-144312600	Weak transcription	Placenta	Placenta
2	chr4:144303000-144312000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:144303000-144318000	Weak transcription	HSMM	muscle
4	chr4:144303200-144311800	Weak transcription	Brain Germinal Matrix	brain
5	chr4:144303200-144312000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:144303200-144317800	Weak transcription	Gastric	stomach
7	chr4:144303400-144312000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr4:144303400-144312600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:144303400-144326600	Weak transcription	Colonic Mucosa	Colon
10	chr4:144304200-144320000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr4:144304400-144312000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:144304600-144311200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:144304600-144312600	Weak transcription	HSMMtube	muscle
14	chr4:144304600-144317000	Weak transcription	K562	blood
15	chr4:144305200-144311800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:144305200-144311800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:144306000-144312000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:144306000-144312000	Weak transcription	Fetal Muscle Leg	muscle
19	chr4:144306000-144312000	Weak transcription	Pancreas	Pancrea
20	chr4:144306200-144311200	Enhancers	Brain Angular Gyrus	brain
21	chr4:144306600-144312000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:144306600-144318000	Weak transcription	Aorta	Aorta
23	chr4:144307000-144311800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:144307400-144312000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:144307400-144323600	Enhancers	Brain Hippocampus Middle	brain
26	chr4:144307800-144311800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:144307800-144313000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr4:144308000-144313400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr4:144308000-144316400	Enhancers	Brain Substantia Nigra	brain
30	chr4:144308200-144311400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:144308200-144311600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr4:144308200-144313800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:144308600-144313000	Enhancers	Primary B cells from cord blood	blood
34	chr4:144308600-144315400	Enhancers	Fetal Lung	lung
35	chr4:144308800-144311400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr4:144308800-144311800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:144308800-144312400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr4:144308800-144313000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr4:144308800-144319400	Enhancers	Brain Cingulate Gyrus	brain
40	chr4:144309200-144311600	Weak transcription	Fetal Intestine Large	intestine
41	chr4:144309200-144312000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:144309200-144312000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:144309200-144312000	Weak transcription	Fetal Brain Female	brain
44	chr4:144309200-144312000	Weak transcription	Ovary	ovary
45	chr4:144309200-144312000	Weak transcription	Right Ventricle	heart
46	chr4:144309200-144317000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:144309200-144327600	Weak transcription	Esophagus	oesophagus
48	chr4:144309400-144313200	Enhancers	Fetal Heart	heart
49	chr4:144309600-144311400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:144309600-144311800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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