Variant report

Variant	rs71610442
Chromosome Location	chr4:144312022-144312023
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	USF1	chr4:144311879-144312351	SK-N-SH_RA	brain:	n/a	chr4:144312148-144312159
2	USF1	chr4:144312007-144312230	HepG2	liver:	n/a	chr4:144312148-144312159
3	USF1	chr4:144311971-144312322	SK-N-SH_RA	brain:	n/a	chr4:144312148-144312159
4	TCF12	chr4:144311872-144313704	SK-N-SH	brain:	n/a	n/a
5	MAX	chr4:144311972-144312307	NB4	blood:	n/a	chr4:144312148-144312158
6	MAX	chr4:144311942-144312660	H1-hESC	embryonic stem cell:	n/a	chr4:144312148-144312158
7	USF1	chr4:144311949-144312264	H1-hESC	embryonic stem cell:	n/a	chr4:144312148-144312159
8	EP300	chr4:144311747-144313775	SK-N-SH	brain:	n/a	chr4:144313360-144313374

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: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10023724	1.00[ASN][1000 genomes]
rs10461277	0.87[AMR][1000 genomes]
rs10461278	0.82[AMR][1000 genomes]
rs10461279	0.87[AMR][1000 genomes]
rs1108827	0.87[AMR][1000 genomes]
rs13104755	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13105258	0.87[AMR][1000 genomes]
rs13107986	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13116594	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118809	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13127055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130995	0.82[AMR][1000 genomes]
rs13137712	0.93[AMR][1000 genomes]
rs17739332	1.00[ASN][1000 genomes]
rs28410377	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28743166	1.00[ASN][1000 genomes]
rs28925878	1.00[ASN][1000 genomes]
rs34176541	0.87[AMR][1000 genomes]
rs34192902	0.87[AMR][1000 genomes]
rs34198661	0.82[AMR][1000 genomes]
rs34225955	0.87[AMR][1000 genomes]
rs34234071	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34398038	0.93[AMR][1000 genomes]
rs34583666	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34589296	0.87[AMR][1000 genomes]
rs34652171	0.87[AMR][1000 genomes]
rs35027946	0.93[AMR][1000 genomes]
rs35095943	0.87[AMR][1000 genomes]
rs35549285	0.87[AMR][1000 genomes]
rs35607189	0.82[AMR][1000 genomes]
rs35909303	0.87[AMR][1000 genomes]
rs35971728	0.87[AMR][1000 genomes]
rs56085707	0.87[AMR][1000 genomes]
rs71610420	0.82[AMR][1000 genomes]
rs71610422	0.87[AMR][1000 genomes]
rs71610423	0.87[AMR][1000 genomes]
rs71610426	0.82[AMR][1000 genomes]
rs71610427	0.87[AMR][1000 genomes]
rs71610431	0.87[AMR][1000 genomes]
rs71610432	0.87[AMR][1000 genomes]
rs71610438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610439	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71610440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663712	0.82[AMR][1000 genomes]
rs9637656	0.87[AMR][1000 genomes]
rs9991495	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144302800-144312600	Weak transcription	Placenta	Placenta
2	chr4:144303000-144318000	Weak transcription	HSMM	muscle
3	chr4:144303200-144317800	Weak transcription	Gastric	stomach
4	chr4:144303400-144312600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:144303400-144326600	Weak transcription	Colonic Mucosa	Colon
6	chr4:144304200-144320000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:144304600-144312600	Weak transcription	HSMMtube	muscle
8	chr4:144304600-144317000	Weak transcription	K562	blood
9	chr4:144306600-144318000	Weak transcription	Aorta	Aorta
10	chr4:144307400-144323600	Enhancers	Brain Hippocampus Middle	brain
11	chr4:144307800-144313000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr4:144308000-144313400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr4:144308000-144316400	Enhancers	Brain Substantia Nigra	brain
14	chr4:144308200-144313800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:144308600-144313000	Enhancers	Primary B cells from cord blood	blood
16	chr4:144308600-144315400	Enhancers	Fetal Lung	lung
17	chr4:144308800-144312400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:144308800-144313000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:144308800-144319400	Enhancers	Brain Cingulate Gyrus	brain
20	chr4:144309200-144317000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:144309200-144327600	Weak transcription	Esophagus	oesophagus
22	chr4:144309400-144313200	Enhancers	Fetal Heart	heart
23	chr4:144309600-144312800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:144309800-144316200	Enhancers	Brain Anterior Caudate	brain
25	chr4:144310000-144312400	Enhancers	HMEC	breast
26	chr4:144310000-144312800	Enhancers	HepG2	liver
27	chr4:144310000-144314800	Enhancers	NHDF-Ad	bronchial
28	chr4:144310000-144315600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:144310000-144316000	Enhancers	NHLF	lung
30	chr4:144310000-144316200	Enhancers	Rectal Smooth Muscle	rectum
31	chr4:144310200-144313000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr4:144310200-144313200	Enhancers	Liver	Liver
33	chr4:144310200-144313400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr4:144310200-144315600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:144310200-144315600	Enhancers	Colon Smooth Muscle	Colon
36	chr4:144310200-144317000	Weak transcription	Left Ventricle	heart
37	chr4:144310200-144325600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:144310400-144315200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:144310600-144312400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr4:144310600-144312800	Enhancers	Small Intestine	intestine
41	chr4:144310600-144313400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:144310600-144314600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:144310800-144312800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr4:144310800-144317600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:144311000-144312600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:144311000-144313000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:144311000-144313200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr4:144311000-144313400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr4:144311200-144312600	Weak transcription	Fetal Stomach	stomach
50	chr4:144311200-144312800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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