Variant report

Variant	rs3761740
Chromosome Location	chr5:74632133-74632134
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:258)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:74632110-74633174	K562	blood:	n/a	n/a
2	MAX	chr5:74631879-74633795	A549	lung:	n/a	n/a
3	CTCF	chr5:74631916-74632964	K562	blood:	n/a	n/a
4	POLR2A	chr5:74631634-74633506	GM12878	blood:	n/a	n/a
5	MAFK	chr5:74632070-74633077	K562	blood:	n/a	chr5:74632532-74632547
6	E2F6	chr5:74632055-74633179	K562	blood:	n/a	chr5:74632966-74632975 chr5:74633159-74633168
7	RFX5	chr5:74631731-74634553	SK-N-SH	brain:	n/a	chr5:74632911-74632926 chr5:74632911-74632926 chr5:74631973-74631981
8	RAD21	chr5:74632108-74633237	H1-hESC	embryonic stem cell:	n/a	chr5:74632954-74632967 chr5:74632529-74632541
9	TCF12	chr5:74632047-74633150	A549	lung:	n/a	n/a
10	YY1	chr5:74632032-74632252	GM12891	blood:	n/a	n/a
11	POLR2A	chr5:74631874-74633770	GM12892	blood:	n/a	n/a
12	MAZ	chr5:74631970-74633567	K562	blood:	n/a	n/a
13	POLR2A	chr5:74632115-74633509	GM18526	blood:	n/a	n/a
14	WRNIP1	chr5:74632014-74633857	GM12878	blood:	n/a	n/a
15	CHD2	chr5:74632005-74633435	Hela-S3	cervix:	n/a	n/a
16	EP300	chr5:74632064-74632415	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr5:74632080-74632230	GM06990	blood:	n/a	n/a
18	TCF7L2	chr5:74632119-74633300	HCT-116	colon:	n/a	n/a
19	STAT3	chr5:74631972-74632424	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr5:74631905-74633380	HepG2	liver:	n/a	n/a
21	JUN	chr5:74631921-74633205	K562	blood:	n/a	chr5:74633165-74633174
22	MYC	chr5:74632116-74633135	K562	blood:	n/a	n/a
23	FOXA2	chr5:74631864-74632175	HepG2	liver:	n/a	n/a
24	POLR2A	chr5:74631930-74633771	Raji	blood:	n/a	n/a
25	POLR2A	chr5:74632026-74633400	HUVEC	blood vessel:	n/a	n/a
26	ELF1	chr5:74632035-74632436	HepG2	liver:	n/a	chr5:74632203-74632214
27	POLR2A	chr5:74632054-74633543	H1-hESC	embryonic stem cell:	n/a	n/a
28	TEAD4	chr5:74631927-74633183	K562	blood:	n/a	n/a
29	ELF1	chr5:74632008-74632433	A549	lung:	n/a	chr5:74632203-74632214
30	POLR2A	chr5:74631994-74633305	SK-N-SH	brain:	n/a	n/a
31	PML	chr5:74631994-74633394	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:74631900-74633686	GM18505	blood:	n/a	n/a
33	POLR2A	chr5:74631942-74633672	GM19099	blood:	n/a	n/a
34	POLR2A	chr5:74631825-74635078	MCF10A-Er-Src	breast:	n/a	n/a
35	SMC3	chr5:74631993-74632816	HepG2	liver:	n/a	n/a
36	STAT3	chr5:74632025-74632806	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr5:74632120-74632270	HepG2	liver:	n/a	n/a
38	RAD21	chr5:74632062-74633284	IMR90	lung:	n/a	chr5:74632954-74632967 chr5:74632529-74632541 chr5:74633270-74633283
39	POLR2A	chr5:74632104-74633929	GM12878	blood:	n/a	n/a
40	BHLHE40	chr5:74632131-74633194	K562	blood:	n/a	n/a
41	POLR2A	chr5:74632088-74632477	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr5:74632117-74633285	HEK293	kidney:	n/a	n/a
43	POLR2A	chr5:74631933-74633442	U87	brain:	n/a	n/a
44	MAX	chr5:74631873-74633841	Hela-S3	cervix:	n/a	n/a
45	MXI1	chr5:74631805-74634379	IMR90	lung:	n/a	chr5:74632912-74632927
46	CUX1	chr5:74632090-74633091	K562	blood:	n/a	n/a
47	FOS	chr5:74632106-74632407	MCF10A-Er-Src	breast:	n/a	n/a
48	MAX	chr5:74632008-74633249	SK-N-SH	brain:	n/a	n/a
49	CREB1	chr5:74631924-74633388	GM12878	blood:	n/a	n/a
50	BRCA1	chr5:74631776-74633117	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:74632112-74632162	PFSK-1	brain:	n/a
2	chr5:74632112-74632162	HEEpiC	esophagus:	n/a
3	chr5:74632112-74632162	SKMC	muscle:	n/a
4	chr5:74632112-74632162	K562	blood:	n/a
5	chr5:74632112-74632162	AG04449	skin:	fetal
6	chr5:74632112-74632162	GM19239	blood:	n/a
7	chr5:74632112-74632162	HNPCEpiC	eye:	n/a
8	chr5:74632112-74632162	AG09319	gingival:	n/a
9	chr5:74632112-74632162	SK-N-MC	brain:	n/a
10	chr5:74632112-74632162	ovcar-3	ovarian:	n/a
11	chr5:74632112-74632162	SK-N-SH_RA	brain:	n/a
12	chr5:74632112-74632162	HCF	heart:	n/a
13	chr5:74632112-74632162	HCPEpiC	choroid plexus:	n/a
14	chr5:74632112-74632162	AG10803	skin:	n/a
15	chr5:74632112-74632162	PrEC	prostate:	n/a
16	chr5:74632112-74632162	PANC-1	pancreas:	n/a
17	chr5:74632112-74632162	HEK293	kidney:	embryo
18	chr5:74632112-74632162	Caco-2	colon:	n/a
19	chr5:74632112-74632162	T-47D	breast:	n/a
20	chr5:74632112-74632162	HRPEpiC	eye:	n/a
21	chr5:74632112-74632162	BE2_C	brain:	n/a
22	chr5:74632112-74632162	HRCEpiC	kidney:	n/a
23	chr5:74632112-74632162	NT2-D1	testis:	n/a
24	chr5:74632112-74632162	SK-N-SH	brain:	n/a
25	chr5:74632112-74632162	HMEC	breast:	n/a
26	chr5:74632112-74632162	NHBE	bronchial:	n/a
27	chr5:74632112-74632162	GM12891	blood:	n/a
28	chr5:74632112-74632162	HAEpiC	amniotic membrane:	n/a
29	chr5:74632112-74632162	U87	brain:	n/a
30	chr5:74632112-74632162	GM06990	blood:	n/a
31	chr5:74632112-74632162	HepG2	liver:	n/a
32	chr5:74632112-74632162	Jurkat	blood:	n/a
33	chr5:74632112-74632162	IMR90	lung:	fetal
34	chr5:74632112-74632162	ECC-1	luminal epithelium:	n/a
35	chr5:74632112-74632162	LNCaP	prostate:	n/a
36	chr5:74632112-74632162	MCF10A-Er-Src	breast:	n/a
37	chr5:74632112-74632162	HRE	kidney:	n/a
38	chr5:74632112-74632162	CMK	blood:	n/a
39	chr5:74632112-74632162	NHDF-neo	bronchial:	n/a
40	chr5:74632112-74632162	RPTEC	kidney:	n/a
41	chr5:74632112-74632162	HPAEpiC	pulmonary alveolar:	n/a
42	chr5:74632112-74632162	HCM	heart:	n/a
43	chr5:74632112-74632162	GM12878	blood:	n/a
44	chr5:74632112-74632162	GM12892	blood:	n/a
45	chr5:74632112-74632162	Hela-S3	cervix:	n/a
46	chr5:74632112-74632162	AoSMC	blood vessel:	n/a
47	chr5:74632112-74632162	HIPEpiC	eye:	n/a
48	chr5:74632112-74632162	NH-A	brain:	n/a
49	chr5:74632112-74632162	MCF-7	breast:	n/a
50	chr5:74632112-74632162	BJ	skin:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:74631027..74633689-chr5:74669899..74673257,3	MCF-7	breast:
2	chr5:74630713..74633733-chr5:74805590..74808087,5	MCF-7	breast:
3	chr5:74632034..74632846-chr8:103424779..103425435,2	Hela-S3	cervix:
4	chr1:53685666..53686642-chr5:74632014..74632632,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
HMGCR	TF binding region
HMGCR	CpG island
ENSG00000113163	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000122008	Chromatin interaction
ENSG00000259818	Chromatin interaction
ENSG00000162384	Chromatin interaction
ENSG00000242198	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10515198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11743717	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11746245	0.85[ASN][1000 genomes]
rs11749414	0.85[ASN][1000 genomes]
rs17238330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244848	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17562686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17648288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3761738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56278921	0.81[AFR][1000 genomes]
rs5909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74619400-74632200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:74621000-74632200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:74631400-74632400	Flanking Active TSS	K562	blood
4	chr5:74631600-74632200	Active TSS	HepG2	liver
5	chr5:74631800-74632200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:74631800-74632200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:74631800-74632200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr5:74631800-74632200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:74631800-74632200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:74631800-74632200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:74631800-74632200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr5:74631800-74632200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr5:74631800-74632200	Flanking Active TSS	HSMMtube	muscle
14	chr5:74631800-74632200	Flanking Active TSS	NHEK	skin
15	chr5:74631800-74632200	Flanking Active TSS	NHLF	lung
16	chr5:74631800-74632200	Flanking Active TSS	Osteobl	bone
17	chr5:74631800-74632400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:74631800-74632400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:74631800-74632400	Flanking Active TSS	Dnd41	blood
20	chr5:74631800-74632400	Flanking Active TSS	GM12878-XiMat	blood
21	chr5:74631800-74632400	Flanking Active TSS	HMEC	breast
22	chr5:74631800-74632600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr5:74631800-74632600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr5:74631800-74632600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr5:74631800-74632600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr5:74631800-74632600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:74631800-74632800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:74631800-74632800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:74631800-74633200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:74631800-74633800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:74631800-74634000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:74631800-74634000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:74631800-74634000	Active TSS	Brain Anterior Caudate	brain
34	chr5:74631800-74634000	Active TSS	Duodenum Mucosa	Duodenum
35	chr5:74631800-74634000	Active TSS	Fetal Kidney	kidney
36	chr5:74631800-74634000	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr5:74631800-74634200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr5:74631800-74634200	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr5:74631800-74634200	Active TSS	Brain Germinal Matrix	brain
40	chr5:74631800-74634200	Active TSS	A549	lung
41	chr5:74631800-74634400	Active TSS	Psoas Muscle	Psoas
42	chr5:74631800-74634800	Active TSS	NHDF-Ad	bronchial
43	chr5:74631800-74636000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr5:74631800-74636400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:74631800-74637000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:74632000-74632200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr5:74632000-74632200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:74632000-74632200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr5:74632000-74632200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:74632000-74632200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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