Variant report

Variant	rs17020316
Chromosome Location	chr2:37442809-37442810
allele	C/T
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	MAFK	chr2:37442380-37442817	Hela-S3	cervix:	n/a	chr2:37442598-37442613
2	MAFK	chr2:37442424-37442883	K562	blood:	n/a	chr2:37442598-37442613
3	MAFK	chr2:37442417-37442812	IMR90	lung:	n/a	chr2:37442598-37442613
4	POLR2A	chr2:37442653-37442871	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:37441521..37444324-chr2:37453853..37455939,2	K562	blood:
2	chr2:37442737..37444326-chr2:37450771..37453240,2	K562	blood:
3	chr2:37425698..37427531-chr2:37442192..37443964,2	K562	blood:
4	chr2:37438662..37441570-chr2:37442605..37444389,3	K562	blood:
5	chr2:37441537..37444026-chr2:37455878..37458720,2	K562	blood:
6	chr2:37423528..37425114-chr2:37439961..37442863,2	MCF-7	breast:

Variant related genes	Relation type
CEBPZ	TF binding region
ENSG00000115816	Chromatin interaction
ENSG00000138068	Chromatin interaction
ENSG00000218739	Chromatin interaction

rs_ID	r²[population]
rs1046927	0.93[EUR][1000 genomes]
rs11569750	1.00[AMR][1000 genomes]
rs11569752	1.00[AMR][1000 genomes]
rs11569754	1.00[CEU][hapmap]
rs2111629	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs2372996	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2372997	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34231434	1.00[AFR][1000 genomes]
rs35637717	1.00[AFR][1000 genomes]
rs45493492	1.00[AMR][1000 genomes]
rs45552433	1.00[AMR][1000 genomes]
rs45626240	1.00[AMR][1000 genomes]
rs55698418	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7557159	1.00[CEU][hapmap]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37424400-37446400	Weak transcription	Small Intestine	intestine
2	chr2:37425000-37444200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:37426600-37451400	Strong transcription	Fetal Thymus	thymus
4	chr2:37427800-37451400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr2:37429000-37449200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:37429400-37449000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:37429800-37452600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:37431200-37450600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:37431200-37450600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:37431200-37452400	Strong transcription	Dnd41	blood
11	chr2:37431400-37450800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:37432400-37444600	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr2:37433000-37451600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:37433200-37450600	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:37433800-37444200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:37433800-37445800	Strong transcription	Placenta	Placenta
17	chr2:37433800-37447800	Weak transcription	Aorta	Aorta
18	chr2:37433800-37447800	Weak transcription	Gastric	stomach
19	chr2:37433800-37448000	Weak transcription	Pancreas	Pancrea
20	chr2:37433800-37453600	Weak transcription	Spleen	Spleen
21	chr2:37434000-37447600	Weak transcription	Right Ventricle	heart
22	chr2:37434200-37452400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:37435600-37444800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:37435600-37444800	Strong transcription	Colon Smooth Muscle	Colon
25	chr2:37436000-37443600	Strong transcription	NHDF-Ad	bronchial
26	chr2:37436000-37444000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:37436400-37444800	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:37436400-37446800	Strong transcription	K562	blood
29	chr2:37436600-37443200	Weak transcription	HSMMtube	muscle
30	chr2:37436600-37444800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:37436600-37444800	Strong transcription	NH-A	brain
32	chr2:37436600-37450000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:37436600-37451400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr2:37436800-37444000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr2:37436800-37444600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:37436800-37444600	Strong transcription	Fetal Lung	lung
37	chr2:37436800-37444800	Strong transcription	Primary B cells from cord blood	blood
38	chr2:37436800-37444800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:37436800-37450400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:37436800-37451400	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:37436800-37452200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr2:37436800-37456600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:37437000-37444200	Strong transcription	Hela-S3	cervix
44	chr2:37437000-37444400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:37437000-37444600	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:37437000-37447000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr2:37437000-37449200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:37437000-37453400	Weak transcription	Fetal Heart	heart
49	chr2:37437200-37444600	Strong transcription	HMEC	breast
50	chr2:37437200-37451400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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