Variant report

Variant	rs17238344
Chromosome Location	chr5:74633540-74633541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:106)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:106 , 50 per page) page: 1 2 3

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	MAZ	chr5:74631970-74633567	K562	blood:	n/a	n/a
6	WRNIP1	chr5:74632014-74633857	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:74633362-74633607	Hela-S3	cervix:	n/a	n/a
8	MYC	chr5:74633458-74633572	MCF-7	breast:	n/a	n/a
9	POLR2A	chr5:74631930-74633771	Raji	blood:	n/a	n/a
10	MYC	chr5:74633420-74633600	MCF-7	breast:	n/a	n/a
11	POLR2A	chr5:74632054-74633543	H1-hESC	embryonic stem cell:	n/a	n/a
12	SREBP2	chr5:74632311-74633710	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:74631900-74633686	GM18505	blood:	n/a	n/a
14	POLR2A	chr5:74631942-74633672	GM19099	blood:	n/a	n/a
15	POLR2A	chr5:74631825-74635078	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:74632492-74633654	GM10847	blood:	n/a	n/a
17	POLR2A	chr5:74632104-74633929	GM12878	blood:	n/a	n/a
18	SMARCB1	chr5:74632292-74633812	Hela-S3	cervix:	n/a	n/a
19	MAX	chr5:74631873-74633841	Hela-S3	cervix:	n/a	n/a
20	HMGN3	chr5:74632556-74633688	K562	blood:	n/a	n/a
21	ZBTB7A	chr5:74633017-74633543	K562	blood:	n/a	n/a
22	MXI1	chr5:74631805-74634379	IMR90	lung:	n/a	chr5:74632912-74632927
23	TAF1	chr5:74632493-74633640	HepG2	liver:	n/a	n/a
24	POLR2A	chr5:74631996-74633615	GM12878	blood:	n/a	n/a
25	CREB1	chr5:74632469-74633654	K562	blood:	n/a	n/a
26	POLR2A	chr5:74631842-74634349	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr5:74633363-74633786	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:74632416-74633745	HL-60	blood:	n/a	n/a
29	POLR2A	chr5:74631880-74633810	GM12878	blood:	n/a	n/a
30	RUNX3	chr5:74631948-74633720	GM12878	blood:	n/a	n/a
31	RELA	chr5:74632164-74633688	GM15510	blood:	n/a	n/a
32	POLR2A	chr5:74632163-74633663	GM15510	blood:	n/a	n/a
33	POLR2A	chr5:74631956-74634841	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr5:74633351-74633757	K562	blood:	n/a	n/a
35	TBP	chr5:74632088-74633986	K562	blood:	n/a	n/a
36	POLR2A	chr5:74633398-74633618	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr5:74631991-74633673	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr5:74631869-74633808	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr5:74632277-74633691	MCF-7	breast:	n/a	n/a
40	POLR2A	chr5:74632154-74633820	GM19193	blood:	n/a	n/a
41	RCOR1	chr5:74633491-74633808	Hela-S3	cervix:	n/a	n/a
42	RCOR1	chr5:74631983-74633846	K562	blood:	n/a	n/a
43	CTCF	chr5:74633420-74633570	HCPEpiC	choroid plexus:	n/a	n/a
44	CHD1	chr5:74632326-74633719	GM12878	blood:	n/a	n/a
45	RCOR1	chr5:74633277-74633866	K562	blood:	n/a	n/a
46	POLR2A	chr5:74632144-74633688	Hela-S3	cervix:	n/a	n/a
47	TAF1	chr5:74632334-74633667	HepG2	liver:	n/a	n/a
48	RUNX3	chr5:74631939-74633672	GM12878	blood:	n/a	n/a
49	RFX5	chr5:74633465-74633595	HepG2	liver:	n/a	n/a
50	POLR2A	chr5:74632062-74634026	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:74633527-74633577	AG10803	skin:	n/a
2	chr5:74633527-74633577	HepG2	liver:	n/a
3	chr5:74633527-74633577	AG09309	skin:	n/a
4	chr5:74633527-74633577	GM19239	blood:	n/a
5	chr5:74633527-74633577	HNPCEpiC	eye:	n/a
6	chr5:74633527-74633577	SKMC	muscle:	n/a
7	chr5:74633527-74633577	PANC-1	pancreas:	n/a
8	chr5:74633527-74633577	Hepatocyte	liver:	n/a
9	chr5:74633527-74633577	Hela-S3	cervix:	n/a
10	chr5:74633527-74633577	ovcar-3	ovarian:	n/a
11	chr5:74633527-74633577	PFSK-1	brain:	n/a
12	chr5:74633527-74633577	PrEC	prostate:	n/a
13	chr5:74633527-74633577	HL-60	blood:	n/a
14	chr5:74633527-74633577	RPTEC	kidney:	n/a
15	chr5:74633527-74633577	ProgFib	skin:	n/a
16	chr5:74633527-74633577	T-47D	breast:	n/a
17	chr5:74633527-74633577	Jurkat	blood:	n/a
18	chr5:74633527-74633577	NT2-D1	testis:	n/a
19	chr5:74633527-74633577	HEK293	kidney:	embryo
20	chr5:74633527-74633577	BJ	skin:	n/a
21	chr5:74633527-74633577	HCT-116	colon:	n/a
22	chr5:74633527-74633577	K562	blood:	n/a
23	chr5:74633527-74633577	MCF-7	breast:	n/a
24	chr5:74633527-74633577	HUVEC	blood vessel:	n/a
25	chr5:74633527-74633577	HRPEpiC	eye:	n/a
26	chr5:74633527-74633577	AG09319	gingival:	n/a
27	chr5:74633527-74633577	H1-hESC	embryonic stem cell:	embryo
28	chr5:74633527-74633577	HPAEpiC	pulmonary alveolar:	n/a
29	chr5:74633527-74633577	U87	brain:	n/a
30	chr5:74633527-74633577	SK-N-SH_RA	brain:	n/a
31	chr5:74633527-74633577	SAEC	small airway:	n/a
32	chr5:74633527-74633577	IMR90	lung:	fetal
33	chr5:74633527-74633577	CMK	blood:	n/a
34	chr5:74633527-74633577	HEEpiC	esophagus:	n/a
35	chr5:74633527-74633577	GM12892	blood:	n/a
36	chr5:74633527-74633577	HIPEpiC	eye:	n/a
37	chr5:74633527-74633577	HCPEpiC	choroid plexus:	n/a
38	chr5:74633527-74633577	HRCEpiC	kidney:	n/a
39	chr5:74633527-74633577	LNCaP	prostate:	n/a
40	chr5:74633527-74633577	NHBE	bronchial:	n/a
41	chr5:74633527-74633577	AG04450	lung:	fetal
42	chr5:74633527-74633577	HRE	kidney:	n/a
43	chr5:74633527-74633577	HCM	heart:	n/a
44	chr5:74633527-74633577	NH-A	brain:	n/a
45	chr5:74633527-74633577	GM12891	blood:	n/a
46	chr5:74633527-74633577	AoSMC	blood vessel:	n/a
47	chr5:74633527-74633577	SK-N-MC	brain:	n/a
48	chr5:74633527-74633577	NHDF-neo	bronchial:	n/a
49	chr5:74633527-74633577	Caco-2	colon:	n/a
50	chr5:74633527-74633577	GM06990	blood:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:74631027..74633689-chr5:74669899..74673257,3	MCF-7	breast:
2	chr5:74632494..74633998-chr5:74680778..74683249,2	MCF-7	breast:
3	chr5:74630713..74633733-chr5:74805590..74808087,5	MCF-7	breast:
4	chr5:73980002..73981869-chr5:74633426..74635131,2	K562	blood:
5	chr5:74532153..74534047-chr5:74632305..74633924,2	MCF-7	breast:

No data

Variant related genes	Relation type
HMGCR	TF binding region
ENSG00000247372	TF binding region
ENSG00000247372	CpG island
HMGCR	CpG island
ENSG00000113163	Chromatin interaction
ENSG00000122008	Chromatin interaction
ENSG00000242198	Chromatin interaction
ENSG00000049860	Chromatin interaction
ENSG00000145700	Chromatin interaction

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

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

rs_ID	r²[population]
rs17238351	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17238358	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17238393	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17244771	1.00[ASW][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17244778	1.00[ASW][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	chr5:74632000-74633600	Active TSS	Primary T cells from cord blood	blood
18	chr5:74632000-74633800	Active TSS	Pancreas	Pancrea
19	chr5:74632000-74633800	Active TSS	Rectal Smooth Muscle	rectum
20	chr5:74632000-74634000	Active TSS	Brain Angular Gyrus	brain
21	chr5:74632000-74634000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr5:74632000-74634000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:74632000-74634000	Active TSS	Brain Substantia Nigra	brain
24	chr5:74632000-74634000	Active TSS	Colon Smooth Muscle	Colon
25	chr5:74632000-74634000	Active TSS	Fetal Muscle Leg	muscle
26	chr5:74632000-74634000	Active TSS	Left Ventricle	heart
27	chr5:74632000-74634000	Active TSS	Ovary	ovary
28	chr5:74632000-74634200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:74632000-74634200	Active TSS	Fetal Brain Male	brain
30	chr5:74632000-74634200	Active TSS	Fetal Muscle Trunk	muscle
31	chr5:74632000-74634200	Active TSS	Fetal Stomach	stomach
32	chr5:74632000-74634400	Active TSS	Aorta	Aorta
33	chr5:74632000-74634400	Active TSS	Colonic Mucosa	Colon
34	chr5:74632000-74634400	Active TSS	Esophagus	oesophagus
35	chr5:74632000-74634400	Active TSS	Right Ventricle	heart
36	chr5:74632000-74634600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:74632000-74634800	Active TSS	HSMM	muscle
38	chr5:74632000-74635000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr5:74632000-74635600	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr5:74632000-74635600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:74632000-74635600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:74632000-74635800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:74632000-74635800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr5:74632000-74635800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:74632000-74635800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr5:74632000-74636000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:74632000-74636600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:74632200-74633600	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr5:74632200-74633800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:74632200-74633800	Active TSS	Primary T helper naive cells from peripheral blood	blood

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