Variant report

Variant	rs17173282
Chromosome Location	chr20:23331066-23331067
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	chr20:23330861-23331308	HepG2	liver:	n/a	n/a
2	STAT3	chr20:23331005-23331472	MCF10A-Er-Src	breast:	n/a	chr20:23331288-23331296 chr20:23331286-23331297
3	REST	chr20:23330728-23331186	A549	lung:	n/a	n/a
4	ATF2	chr20:23330387-23331151	GM12878	blood:	n/a	n/a
5	HDAC2	chr20:23330549-23331617	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF143	chr20:23330418-23331523	Hela-S3	cervix:	n/a	n/a
7	TAF1	chr20:23330921-23331376	GM12891	blood:	n/a	n/a
8	POLR2A	chr20:23330364-23332519	GM12891	blood:	n/a	n/a
9	TBP	chr20:23330477-23331617	HepG2	liver:	n/a	n/a
10	HCFC1	chr20:23330525-23331989	K562	blood:	n/a	n/a
11	TAF7	chr20:23330840-23331314	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr20:23330592-23332129	HepG2	liver:	n/a	n/a
13	ZNF143	chr20:23330945-23331852	H1-hESC	embryonic stem cell:	n/a	n/a
14	USF1	chr20:23330645-23331546	SK-N-SH	brain:	n/a	chr20:23330993-23331009 chr20:23330982-23330998
15	YY1	chr20:23330629-23331863	A549	lung:	n/a	chr20:23330899-23330913 chr20:23331404-23331418 chr20:23331410-23331419 chr20:23330733-23330742 chr20:23331661-23331675
16	TAF1	chr20:23330571-23332171	ECC-1	luminal epithelium:	n/a	n/a
17	TBP	chr20:23330395-23331585	GM12878	blood:	n/a	n/a
18	E2F6	chr20:23330653-23332176	K562	blood:	n/a	chr20:23331411-23331421 chr20:23331453-23331465 chr20:23331943-23331952 chr20:23330736-23330745
19	MAZ	chr20:23330450-23331607	HepG2	liver:	n/a	chr20:23330889-23330905 chr20:23330889-23330896 chr20:23330744-23330753 chr20:23330734-23330744 chr20:23330887-23330896
20	MAX	chr20:23330337-23332285	Hela-S3	cervix:	n/a	chr20:23331798-23331809 chr20:23330889-23330905 chr20:23331800-23331809 chr20:23331798-23331808 chr20:23330889-23330896 chr20:23331797-23331812 chr20:23330744-23330753 chr20:23330734-23330744 chr20:23330887-23330896 chr20:23331797-23331810 chr20:23331799-23331809
21	POLR2A	chr20:23330296-23332340	HUVEC	blood vessel:	n/a	n/a
22	CTCF	chr20:23330980-23331130	GM12878	blood:	n/a	n/a
23	MAX	chr20:23330413-23332317	NB4	blood:	n/a	chr20:23331798-23331809 chr20:23330889-23330905 chr20:23331800-23331809 chr20:23331798-23331808 chr20:23330889-23330896 chr20:23331797-23331812 chr20:23330744-23330753 chr20:23330734-23330744 chr20:23330887-23330896 chr20:23331797-23331810 chr20:23331799-23331809
24	NFIC	chr20:23330701-23331437	ECC-1	luminal epithelium:	n/a	n/a
25	MYC	chr20:23330725-23331106	GM12878	blood:	n/a	chr20:23330889-23330905 chr20:23330889-23330896 chr20:23330744-23330753 chr20:23330734-23330744 chr20:23330887-23330896
26	RCOR1	chr20:23330886-23331367	K562	blood:	n/a	n/a
27	POLR2A	chr20:23330384-23331676	HUVEC	blood vessel:	n/a	n/a
28	YY1	chr20:23330602-23331909	GM12878	blood:	n/a	chr20:23330899-23330913 chr20:23331404-23331418 chr20:23331410-23331419 chr20:23330733-23330742 chr20:23331661-23331675
29	POLR2A	chr20:23330365-23331754	Hela-S3	cervix:	n/a	n/a
30	TBL1XR1	chr20:23330463-23331205	K562	blood:	n/a	n/a
31	ZBTB33	chr20:23330717-23331534	A549	lung:	n/a	n/a
32	GABPA	chr20:23330762-23331954	HepG2	liver:	n/a	chr20:23331062-23331071
33	SIN3AK20	chr20:23330803-23331621	HepG2	liver:	n/a	n/a
34	POLR2A	chr20:23330622-23332092	Gliobla	brain:	n/a	n/a
35	POLR2A	chr20:23330464-23331627	HepG2	liver:	n/a	n/a
36	MTA3	chr20:23330335-23332333	GM12878	blood:	n/a	n/a
37	PML	chr20:23330519-23331590	GM12878	blood:	n/a	n/a
38	GABPA	chr20:23330603-23331999	K562	blood:	n/a	chr20:23331062-23331071
39	GABPA	chr20:23330642-23332267	A549	lung:	n/a	chr20:23331062-23331071
40	ELF1	chr20:23330451-23332103	MCF-7	breast:	n/a	chr20:23331411-23331423 chr20:23331305-23331314 chr20:23330645-23330658 chr20:23331487-23331499
41	ZNF384	chr20:23330883-23331426	GM12878	blood:	n/a	n/a
42	JUND	chr20:23330516-23331992	A549	lung:	n/a	chr20:23330737-23330746
43	ETS1	chr20:23330527-23331575	A549	lung:	n/a	chr20:23330733-23330744 chr20:23330808-23330823 chr20:23330739-23330750 chr20:23331352-23331361
44	POLR2A	chr20:23330302-23332250	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr20:23331040-23331190	SAEC	small airway:	n/a	n/a
46	TAF1	chr20:23331015-23331192	Hela-S3	cervix:	n/a	n/a
47	BACH1	chr20:23330305-23332189	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr20:23330594-23332195	MCF-7	breast:	n/a	n/a
49	MEF2A	chr20:23330678-23331534	GM12878	blood:	n/a	n/a
50	POLR2A	chr20:23329986-23332360	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23330877..23333588-chr20:23399396..23402604,5	K562	blood:
2	chr20:23330561..23331162-chr3:137906148..137906729,2	Hela-S3	cervix:
3	chr20:23187473..23190139-chr20:23328538..23331366,2	MCF-7	breast:
4	chr20:23029557..23031432-chr20:23330980..23333181,2	MCF-7	breast:
5	chr12:122502015..122502839-chr20:23330558..23331073,2	NB4	blood:
6	chr10:6244548..6245207-chr20:23330568..23331191,2	HCT-116	colon:
7	chr20:23022684..23024263-chr20:23328966..23331361,2	MCF-7	breast:
8	chr20:23029084..23031719-chr20:23329992..23332006,2	K562	blood:

Variant related genes	Relation type
NXT1	TF binding region
ENSG00000213994	Chromatin interaction
ENSG00000125814	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000256546	Chromatin interaction
ENSG00000114098	Chromatin interaction
ENSG00000178726	Chromatin interaction

rs_ID	r²[population]
rs16985225	0.96[ASN][1000 genomes]
rs1891687	0.96[ASN][1000 genomes]
rs2277766	1.00[EUR][1000 genomes]
rs3810574	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048732	0.92[ASN][1000 genomes]
rs6048733	0.96[ASN][1000 genomes]
rs6048734	0.96[ASN][1000 genomes]
rs73303402	1.00[EUR][1000 genomes]
rs73904259	0.96[ASN][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23329800-23331200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr20:23329800-23331200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr20:23329800-23333600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr20:23330000-23331600	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr20:23330000-23331800	Active TSS	Duodenum Mucosa	Duodenum
6	chr20:23330000-23331800	Active TSS	Fetal Muscle Trunk	muscle
7	chr20:23330000-23332000	Active TSS	Rectal Smooth Muscle	rectum
8	chr20:23330000-23332000	Active TSS	Right Atrium	heart
9	chr20:23330000-23332400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr20:23330000-23332600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr20:23330000-23332600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr20:23330000-23332800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr20:23330200-23331200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr20:23330200-23331200	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr20:23330200-23331600	Active TSS	Colonic Mucosa	Colon
16	chr20:23330200-23331800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr20:23330200-23331800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr20:23330200-23331800	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr20:23330200-23331800	Active TSS	Stomach Smooth Muscle	stomach
20	chr20:23330200-23332200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr20:23330200-23332200	Active TSS	Aorta	Aorta
22	chr20:23330200-23332200	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr20:23330200-23332200	Active TSS	Fetal Intestine Large	intestine
24	chr20:23330200-23332200	Active TSS	Fetal Intestine Small	intestine
25	chr20:23330200-23332200	Active TSS	Fetal Kidney	kidney
26	chr20:23330200-23332200	Active TSS	Right Ventricle	heart
27	chr20:23330200-23332200	Active TSS	Small Intestine	intestine
28	chr20:23330200-23332200	Active TSS	NHLF	lung
29	chr20:23330200-23332400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr20:23330200-23332400	Active TSS	H9 Cell Line	embryonic stem cell
31	chr20:23330200-23332400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr20:23330200-23332400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr20:23330200-23332400	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr20:23330200-23332400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr20:23330200-23332400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr20:23330200-23332400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr20:23330200-23332400	Active TSS	Psoas Muscle	Psoas
38	chr20:23330200-23332400	Active TSS	HMEC	breast
39	chr20:23330200-23332400	Active TSS	HSMM	muscle
40	chr20:23330200-23332400	Active TSS	HSMMtube	muscle
41	chr20:23330200-23332600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr20:23330200-23332600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr20:23330200-23332600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr20:23330200-23332600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr20:23330200-23332600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr20:23330200-23332600	Active TSS	A549	lung
47	chr20:23330200-23332600	Active TSS	Hela-S3	cervix
48	chr20:23330200-23332800	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr20:23330200-23332800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:23330200-23332800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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