Variant report

Variant	rs12116579
Chromosome Location	chr1:179053993-179053994
allele	A/C
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	POLR2A	chr1:179053789-179054212	A549	lung:	n/a	n/a
2	POLR2A	chr1:179053683-179054268	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:179053763-179054298	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:179053784-179054280	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:179053984-179054232	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179051673..179054487-chr1:179062645..179065575,2	K562	blood:

Variant related genes	Relation type
TOR3A	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12121752	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12124177	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12126863	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12128939	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12131324	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12131503	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12133094	0.82[EUR][1000 genomes]
rs12139435	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16853621	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28913873	0.97[ASN][1000 genomes]
rs28913881	0.97[ASN][1000 genomes]
rs28914519	0.90[ASN][1000 genomes]
rs28914528	0.90[ASN][1000 genomes]
rs28914534	0.90[ASN][1000 genomes]
rs28914538	0.86[EUR][1000 genomes]
rs28991590	0.84[ASN][1000 genomes]
rs28991593	0.84[ASN][1000 genomes]
rs28991599	0.84[ASN][1000 genomes]
rs28991605	0.84[ASN][1000 genomes]
rs3766620	0.90[ASN][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179052200-179062200	Weak transcription	Small Intestine	intestine
2	chr1:179052400-179054400	Weak transcription	Right Ventricle	heart
3	chr1:179052400-179054600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:179052400-179054800	Weak transcription	Aorta	Aorta
5	chr1:179052400-179054800	Weak transcription	Brain Germinal Matrix	brain
6	chr1:179052400-179054800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:179052400-179054800	Weak transcription	Left Ventricle	heart
8	chr1:179052400-179054800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:179052400-179054800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:179052400-179056000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:179052400-179056000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:179052400-179056200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:179052400-179056400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:179052400-179056600	Weak transcription	Right Atrium	heart
15	chr1:179052400-179056600	Weak transcription	HUVEC	blood vessel
16	chr1:179052400-179058800	Weak transcription	NH-A	brain
17	chr1:179052400-179059000	Weak transcription	Psoas Muscle	Psoas
18	chr1:179052400-179060000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:179052400-179060200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:179052400-179060800	Weak transcription	Fetal Lung	lung
21	chr1:179052400-179062600	Weak transcription	Fetal Kidney	kidney
22	chr1:179052600-179054000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:179052600-179054000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:179052600-179054400	Weak transcription	Placenta	Placenta
25	chr1:179052600-179054600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:179052600-179054800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:179052600-179054800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:179052600-179056000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:179052600-179056200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:179052600-179056800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:179052600-179057000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:179052600-179058800	Weak transcription	NHDF-Ad	bronchial
33	chr1:179052600-179064200	Weak transcription	Fetal Brain Male	brain
34	chr1:179052800-179054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:179052800-179054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:179052800-179054800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:179052800-179054800	Weak transcription	Esophagus	oesophagus
38	chr1:179052800-179055000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:179052800-179055000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:179052800-179056200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:179052800-179057400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:179052800-179059400	Weak transcription	Fetal Heart	heart
43	chr1:179053000-179054000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:179053000-179054000	Enhancers	Liver	Liver
45	chr1:179053000-179054600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:179053000-179054800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:179053000-179055800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:179053000-179056200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr1:179053000-179056600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:179053000-179059600	Weak transcription	HSMM	muscle

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