Variant report

Variant	rs17238351
Chromosome Location	chr5:74633716-74633717
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	MAX	chr5:74631879-74633795	A549	lung:	n/a	n/a
2	MAX	chr5:74633306-74633834	K562	blood:	n/a	n/a
3	RFX5	chr5:74631731-74634553	SK-N-SH	brain:	n/a	chr5:74632911-74632926 chr5:74632911-74632926 chr5:74631973-74631981
4	POLR2A	chr5:74631874-74633770	GM12892	blood:	n/a	n/a
5	WRNIP1	chr5:74632014-74633857	GM12878	blood:	n/a	n/a
6	POLR2A	chr5:74631930-74633771	Raji	blood:	n/a	n/a
7	POLR2A	chr5:74631825-74635078	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr5:74632104-74633929	GM12878	blood:	n/a	n/a
9	SMARCB1	chr5:74632292-74633812	Hela-S3	cervix:	n/a	n/a
10	MAX	chr5:74631873-74633841	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr5:74631805-74634379	IMR90	lung:	n/a	chr5:74632912-74632927
12	POLR2A	chr5:74631842-74634349	Hela-S3	cervix:	n/a	n/a
13	BACH1	chr5:74633628-74633828	K562	blood:	n/a	n/a
14	POLR2A	chr5:74633590-74633785	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr5:74633363-74633786	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr5:74632416-74633745	HL-60	blood:	n/a	n/a
17	POLR2A	chr5:74631880-74633810	GM12878	blood:	n/a	n/a
18	RUNX3	chr5:74631948-74633720	GM12878	blood:	n/a	n/a
19	BACH1	chr5:74633647-74633865	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:74631956-74634841	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr5:74633351-74633757	K562	blood:	n/a	n/a
22	TBP	chr5:74632088-74633986	K562	blood:	n/a	n/a
23	MAFF	chr5:74633667-74633867	K562	blood:	n/a	n/a
24	MAFK	chr5:74633616-74633817	HepG2	liver:	n/a	chr5:74633732-74633743 chr5:74633730-74633744 chr5:74633731-74633746 chr5:74633731-74633742 chr5:74633731-74633742 chr5:74633731-74633747
25	POLR2A	chr5:74631869-74633808	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr5:74632154-74633820	GM19193	blood:	n/a	n/a
27	RCOR1	chr5:74633491-74633808	Hela-S3	cervix:	n/a	n/a
28	RCOR1	chr5:74631983-74633846	K562	blood:	n/a	n/a
29	CHD1	chr5:74632326-74633719	GM12878	blood:	n/a	n/a
30	RCOR1	chr5:74633277-74633866	K562	blood:	n/a	n/a
31	MAFK	chr5:74633606-74633860	HepG2	liver:	n/a	chr5:74633732-74633743 chr5:74633730-74633744 chr5:74633731-74633746 chr5:74633731-74633742 chr5:74633731-74633742 chr5:74633731-74633747
32	POLR2A	chr5:74632062-74634026	IMR90	lung:	n/a	n/a
33	HCFC1	chr5:74631882-74634373	Hela-S3	cervix:	n/a	n/a
34	SIN3AK20	chr5:74632528-74633795	PANC-1	pancreas:	n/a	n/a
35	MAFK	chr5:74633601-74633895	Hela-S3	cervix:	n/a	chr5:74633732-74633743 chr5:74633730-74633744 chr5:74633731-74633746 chr5:74633731-74633742 chr5:74633731-74633742 chr5:74633731-74633747
36	MXI1	chr5:74633605-74634114	Hela-S3	cervix:	n/a	n/a
37	HEY1	chr5:74633514-74634016	HepG2	liver:	n/a	n/a
38	POLR2A	chr5:74631943-74633749	ECC-1	luminal epithelium:	n/a	n/a
39	MAX	chr5:74632001-74633845	NB4	blood:	n/a	n/a
40	SIN3A	chr5:74631984-74634040	H1-hESC	embryonic stem cell:	n/a	chr5:74633904-74633918
41	MXI1	chr5:74631714-74635061	SK-N-SH	brain:	n/a	chr5:74632912-74632927
42	ZNF384	chr5:74633359-74634195	K562	blood:	n/a	n/a
43	STAT5A	chr5:74633471-74633956	GM12878	blood:	n/a	n/a
44	REST	chr5:74631514-74635189	H1-neurons	neurons:	n/a	chr5:74633899-74633919 chr5:74634974-74634983 chr5:74633899-74633919 chr5:74633905-74633919 chr5:74633939-74633948 chr5:74633163-74633173 chr5:74633899-74633919 chr5:74633900-74633918
45	RFX5	chr5:74631944-74634227	Hela-S3	cervix:	n/a	chr5:74632911-74632926 chr5:74632911-74632926 chr5:74631973-74631981
46	UBTF	chr5:74632043-74634277	K562	blood:	n/a	n/a
47	POLR2A	chr5:74632132-74633770	GM12892	blood:	n/a	n/a
48	MAX	chr5:74632003-74633741	ECC-1	luminal epithelium:	n/a	n/a
49	CCNT2	chr5:74632202-74633783	K562	blood:	n/a	n/a
50	POLR2A	chr5:74632014-74633747	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:74632494..74633998-chr5:74680778..74683249,2	MCF-7	breast:
2	chr5:74630713..74633733-chr5:74805590..74808087,5	MCF-7	breast:
3	chr5:73980002..73981869-chr5:74633426..74635131,2	K562	blood:
4	chr5:74532153..74534047-chr5:74632305..74633924,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247372	TF binding region
HMGCR	TF binding region
ENSG00000113163	Chromatin interaction
ENSG00000122008	Chromatin interaction
ENSG00000145700	Chromatin interaction
ENSG00000049860	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17238344	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17238358	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17238393	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17244771	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17244778	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17244827	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17244876	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744538	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs5744622	1.00[AMR][1000 genomes]
rs6805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74631800-74633800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:74631800-74634000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:74631800-74634000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:74631800-74634000	Active TSS	Brain Anterior Caudate	brain
5	chr5:74631800-74634000	Active TSS	Duodenum Mucosa	Duodenum
6	chr5:74631800-74634000	Active TSS	Fetal Kidney	kidney
7	chr5:74631800-74634000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr5:74631800-74634200	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:74631800-74634200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr5:74631800-74634200	Active TSS	Brain Germinal Matrix	brain
11	chr5:74631800-74634200	Active TSS	A549	lung
12	chr5:74631800-74634400	Active TSS	Psoas Muscle	Psoas
13	chr5:74631800-74634800	Active TSS	NHDF-Ad	bronchial
14	chr5:74631800-74636000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr5:74631800-74636400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:74631800-74637000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:74632000-74633800	Active TSS	Pancreas	Pancrea
18	chr5:74632000-74633800	Active TSS	Rectal Smooth Muscle	rectum
19	chr5:74632000-74634000	Active TSS	Brain Angular Gyrus	brain
20	chr5:74632000-74634000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr5:74632000-74634000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr5:74632000-74634000	Active TSS	Brain Substantia Nigra	brain
23	chr5:74632000-74634000	Active TSS	Colon Smooth Muscle	Colon
24	chr5:74632000-74634000	Active TSS	Fetal Muscle Leg	muscle
25	chr5:74632000-74634000	Active TSS	Left Ventricle	heart
26	chr5:74632000-74634000	Active TSS	Ovary	ovary
27	chr5:74632000-74634200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:74632000-74634200	Active TSS	Fetal Brain Male	brain
29	chr5:74632000-74634200	Active TSS	Fetal Muscle Trunk	muscle
30	chr5:74632000-74634200	Active TSS	Fetal Stomach	stomach
31	chr5:74632000-74634400	Active TSS	Aorta	Aorta
32	chr5:74632000-74634400	Active TSS	Colonic Mucosa	Colon
33	chr5:74632000-74634400	Active TSS	Esophagus	oesophagus
34	chr5:74632000-74634400	Active TSS	Right Ventricle	heart
35	chr5:74632000-74634600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:74632000-74634800	Active TSS	HSMM	muscle
37	chr5:74632000-74635000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr5:74632000-74635600	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr5:74632000-74635600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr5:74632000-74635600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:74632000-74635800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:74632000-74635800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr5:74632000-74635800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:74632000-74635800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr5:74632000-74636000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:74632000-74636600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:74632200-74633800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:74632200-74633800	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr5:74632200-74633800	Active TSS	Fetal Heart	heart
50	chr5:74632200-74633800	Active TSS	Gastric	stomach

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