Variant report

Variant	rs10157302
Chromosome Location	chr1:59252217-59252218
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	CHD1	chr1:59244118-59252745	IMR90	lung:	n/a	chr1:59250203-59250213
2	RAD21	chr1:59247406-59252535	IMR90	lung:	n/a	chr1:59249492-59249505 chr1:59250252-59250265 chr1:59249113-59249126

No.	Distal block	Cell Line	Cell type
1	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
2	chr1:59245578..59252912-chr1:59759683..59766457,13	MCF-7	breast:
3	chr1:59243458..59255133-chr1:59272031..59283720,29	K562	blood:
4	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
5	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:

Variant related genes	Relation type
JUN	TF binding region
ENSG00000272226	Chromatin interaction
ENSG00000172456	Chromatin interaction
ENSG00000232453	Chromatin interaction

rs_ID	r²[population]
rs10158600	1.00[AFR][1000 genomes]
rs10158603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688	1.00[ASN][1000 genomes]
rs11807819	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17265089	1.00[ASN][1000 genomes]
rs1980700	1.00[ASN][1000 genomes]
rs2811890	0.83[ASN][1000 genomes]
rs33989940	0.92[ASN][1000 genomes]
rs34328062	1.00[ASN][1000 genomes]
rs34417049	1.00[ASN][1000 genomes]
rs34451092	1.00[ASN][1000 genomes]
rs34938302	1.00[ASN][1000 genomes]
rs35354349	1.00[ASN][1000 genomes]
rs55805512	1.00[ASN][1000 genomes]
rs58485839	0.95[AFR][1000 genomes]

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59251200-59252600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:59251400-59252400	Enhancers	HSMMtube	muscle
3	chr1:59251400-59252600	Enhancers	HSMM	muscle
4	chr1:59251400-59252800	Enhancers	HUVEC	blood vessel
5	chr1:59251400-59256000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:59251400-59275000	Weak transcription	Ovary	ovary
7	chr1:59251400-59279200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:59251600-59252400	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:59251600-59252400	Enhancers	NH-A	brain
10	chr1:59251600-59252600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:59251600-59252600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr1:59251600-59252600	Enhancers	Fetal Heart	heart
13	chr1:59251600-59252600	Enhancers	Fetal Intestine Large	intestine
14	chr1:59251600-59252600	Enhancers	Fetal Lung	lung
15	chr1:59251600-59252600	Enhancers	Fetal Muscle Leg	muscle
16	chr1:59251600-59252600	Enhancers	Fetal Stomach	stomach
17	chr1:59251600-59252600	Weak transcription	Spleen	Spleen
18	chr1:59251600-59252600	Enhancers	HMEC	breast
19	chr1:59251600-59252800	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:59251600-59252800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:59251600-59253000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr1:59251600-59253200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:59251600-59256000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:59251600-59256800	Weak transcription	Esophagus	oesophagus
25	chr1:59251600-59260000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:59251600-59261400	Weak transcription	Psoas Muscle	Psoas
27	chr1:59251800-59252400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:59251800-59252400	Enhancers	Adipose Nuclei	Adipose
29	chr1:59251800-59252600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:59251800-59252600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:59251800-59252600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr1:59251800-59252600	Enhancers	Colon Smooth Muscle	Colon
33	chr1:59251800-59252600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr1:59251800-59252600	Enhancers	Osteobl	bone
35	chr1:59251800-59252800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:59251800-59252800	Enhancers	Pancreas	Pancrea
37	chr1:59251800-59252800	Enhancers	NHDF-Ad	bronchial
38	chr1:59251800-59252800	Enhancers	NHLF	lung
39	chr1:59251800-59253000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:59251800-59253400	Enhancers	Fetal Intestine Small	intestine
41	chr1:59251800-59253800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:59251800-59253800	Weak transcription	Primary B cells from cord blood	blood
43	chr1:59251800-59253800	Weak transcription	Brain Substantia Nigra	brain
44	chr1:59251800-59255000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:59251800-59255000	Weak transcription	Hela-S3	cervix
46	chr1:59251800-59255200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:59251800-59260000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:59251800-59261400	Weak transcription	Left Ventricle	heart
49	chr1:59251800-59264400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:59251800-59265000	Weak transcription	Stomach Mucosa	stomach

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