Variant report

Variant	rs73763040
Chromosome Location	chr5:74533095-74533096
allele	A/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	POLR2A	chr5:74532295-74533237	MCF-7	breast:	n/a	n/a
2	ZNF384	chr5:74532676-74533336	GM12878	blood:	n/a	n/a
3	ELF1	chr5:74532565-74533109	HepG2	liver:	n/a	n/a
4	NRF1	chr5:74532015-74533231	SK-N-SH	brain:	n/a	chr5:74532822-74532831 chr5:74532787-74532796 chr5:74532827-74532841 chr5:74532827-74532838
5	WRNIP1	chr5:74532511-74533160	GM12878	blood:	n/a	n/a
6	REST	chr5:74532278-74533455	H1-neurons	neurons:	n/a	chr5:74532786-74532799
7	REST	chr5:74532452-74533123	A549	lung:	n/a	chr5:74532786-74532799
8	TAF1	chr5:74532501-74533327	H1-neurons	neurons:	n/a	n/a
9	MAX	chr5:74532227-74533118	MCF-7	breast:	n/a	chr5:74532299-74532309
10	POLR2A	chr5:74532211-74533146	ECC-1	luminal epithelium:	n/a	n/a
11	STAT1	chr5:74532458-74533216	GM12878	blood:	n/a	n/a
12	NRF1	chr5:74532575-74533108	GM12878	blood:	n/a	chr5:74532822-74532831 chr5:74532787-74532796 chr5:74532827-74532841 chr5:74532827-74532838
13	ZMIZ1	chr5:74532532-74533118	K562	blood:	n/a	n/a
14	SMC3	chr5:74532536-74533124	HepG2	liver:	n/a	chr5:74532789-74532799
15	ZNF384	chr5:74532563-74533288	K562	blood:	n/a	n/a
16	POLR2A	chr5:74532538-74533137	ECC-1	luminal epithelium:	n/a	n/a
17	GABPA	chr5:74532530-74533114	A549	lung:	n/a	chr5:74532822-74532831 chr5:74532787-74532796 chr5:74532827-74532841
18	STAT3	chr5:74532860-74533216	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr5:74532337-74533225	K562	blood:	n/a	chr5:74532789-74532802 chr5:74532628-74532641
20	POLR2A	chr5:74532465-74533180	HEK293	kidney:	n/a	n/a
21	POLR2A	chr5:74532383-74533107	PFSK-1	brain:	n/a	n/a
22	MAX	chr5:74532153-74533137	SK-N-SH	brain:	n/a	chr5:74532299-74532309
23	TCF12	chr5:74532242-74533243	A549	lung:	n/a	chr5:74532349-74532359 chr5:74533070-74533080
24	E2F6	chr5:74532129-74533199	K562	blood:	n/a	chr5:74532787-74532796
25	CREB1	chr5:74532627-74533114	ECC-1	luminal epithelium:	n/a	n/a
26	SIN3A	chr5:74532429-74533213	H1-hESC	embryonic stem cell:	n/a	chr5:74532789-74532802
27	BHLHE40	chr5:74532228-74533127	K562	blood:	n/a	chr5:74532785-74532801 chr5:74533055-74533071
28	POLR2A	chr5:74532421-74533240	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr5:74532465-74533140	K562	blood:	n/a	n/a
30	TCF12	chr5:74532411-74533206	ECC-1	luminal epithelium:	n/a	chr5:74533070-74533080
31	POLR2A	chr5:74532266-74533260	U87	brain:	n/a	n/a
32	CHD1	chr5:74532821-74533331	H1-hESC	embryonic stem cell:	n/a	chr5:74533061-74533071
33	E2F4	chr5:74532278-74533096	K562	blood:	n/a	chr5:74532787-74532796
34	POLR2A	chr5:74532236-74533141	GM19193	blood:	n/a	n/a
35	CTCF	chr5:74532218-74533414	A549	lung:	n/a	chr5:74532789-74532802 chr5:74532628-74532641
36	TCF7L2	chr5:74532686-74533098	Hela-S3	cervix:	n/a	n/a
37	TEAD4	chr5:74532585-74533179	K562	blood:	n/a	n/a
38	POLR2A	chr5:74532665-74533117	GM12878	blood:	n/a	n/a
39	SIN3A	chr5:74532734-74533114	GM12878	blood:	n/a	chr5:74532789-74532802
40	TAF1	chr5:74532577-74533096	HepG2	liver:	n/a	n/a
41	EP300	chr5:74532483-74533319	ECC-1	luminal epithelium:	n/a	chr5:74532924-74532940 chr5:74532545-74532558 chr5:74532795-74532811 chr5:74533061-74533077 chr5:74532808-74532815
42	HA-E2F1	chr5:74532398-74533209	MCF-7	breast:	n/a	chr5:74532787-74532796
43	POLR2A	chr5:74532572-74533148	HepG2	liver:	n/a	n/a
44	IRF1	chr5:74532482-74533129	K562	blood:	n/a	chr5:74532783-74532797 chr5:74532880-74532894 chr5:74532846-74532860
45	PAX5	chr5:74532515-74533125	GM12878	blood:	n/a	chr5:74532824-74532833 chr5:74532826-74532835 chr5:74532828-74532837
46	GTF2F1	chr5:74532333-74533123	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr5:74532399-74533116	GM12878	blood:	n/a	chr5:74533061-74533071
48	REST	chr5:74532562-74533102	HepG2	liver:	n/a	chr5:74532786-74532799
49	FOXM1	chr5:74532534-74533101	GM12878	blood:	n/a	n/a
50	POLR2A	chr5:74532469-74533159	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:74533066-74533116	HAEpiC	amniotic membrane:	n/a
2	chr5:74533066-74533116	SAEC	small airway:	n/a
3	chr5:74533066-74533116	PrEC	prostate:	n/a
4	chr5:74533066-74533116	ECC-1	luminal epithelium:	n/a
5	chr5:74533066-74533116	HCPEpiC	choroid plexus:	n/a
6	chr5:74533066-74533116	SKMC	muscle:	n/a
7	chr5:74533066-74533116	ProgFib	skin:	n/a
8	chr5:74533066-74533116	HepG2	liver:	n/a
9	chr5:74533066-74533116	HNPCEpiC	eye:	n/a
10	chr5:74533066-74533116	AG04450	lung:	fetal
11	chr5:74533066-74533116	HRPEpiC	eye:	n/a
12	chr5:74533066-74533116	PFSK-1	brain:	n/a
13	chr5:74533066-74533116	HUVEC	blood vessel:	n/a
14	chr5:74533066-74533116	ovcar-3	ovarian:	n/a
15	chr5:74533066-74533116	NH-A	brain:	n/a
16	chr5:74533066-74533116	Jurkat	blood:	n/a
17	chr5:74533066-74533116	RPTEC	kidney:	n/a
18	chr5:74533066-74533116	A549	lung:	n/a
19	chr5:74533066-74533116	NHDF-neo	bronchial:	n/a
20	chr5:74533066-74533116	GM06990	blood:	n/a
21	chr5:74533066-74533116	PANC-1	pancreas:	n/a
22	chr5:74533066-74533116	HEEpiC	esophagus:	n/a
23	chr5:74533066-74533116	IMR90	lung:	fetal
24	chr5:74533066-74533116	MCF10A-Er-Src	breast:	n/a
25	chr5:74533066-74533116	NB4	blood:	n/a
26	chr5:74533066-74533116	MCF-7	breast:	n/a
27	chr5:74533066-74533116	T-47D	breast:	n/a
28	chr5:74533066-74533116	AoSMC	blood vessel:	n/a
29	chr5:74533066-74533116	SK-N-MC	brain:	n/a
30	chr5:74533066-74533116	Hela-S3	cervix:	n/a
31	chr5:74533066-74533116	NHBE	bronchial:	n/a
32	chr5:74533066-74533116	HRCEpiC	kidney:	n/a
33	chr5:74533066-74533116	HEK293	kidney:	embryo
34	chr5:74533066-74533116	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:74533066-74533116	HCF	heart:	n/a
36	chr5:74533066-74533116	NT2-D1	testis:	n/a
37	chr5:74533066-74533116	SK-N-SH	brain:	n/a
38	chr5:74533066-74533116	HIPEpiC	eye:	n/a
39	chr5:74533066-74533116	HL-60	blood:	n/a
40	chr5:74533066-74533116	AG09309	skin:	n/a
41	chr5:74533066-74533116	HMEC	breast:	n/a
42	chr5:74533066-74533116	AG04449	skin:	fetal
43	chr5:74533066-74533116	GM12891	blood:	n/a
44	chr5:74533066-74533116	Hepatocyte	liver:	n/a
45	chr5:74533066-74533116	SK-N-SH_RA	brain:	n/a
46	chr5:74533066-74533116	Caco-2	colon:	n/a
47	chr5:74533066-74533116	GM12878	blood:	n/a
48	chr5:74533066-74533116	BE2_C	brain:	n/a
49	chr5:74533066-74533116	HCM	heart:	n/a
50	chr5:74533066-74533116	H1-hESC	embryonic stem cell:	embryo

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74532153..74534047-chr5:74632305..74633924,2	MCF-7	breast:
2	chr5:74532409..74533382-chr5:74632361..74633307,2	Hela-S3	cervix:

Variant related genes	Relation type
ANKRD31	TF binding region
ANKRD31	CpG island
ENSG00000113161	Chromatin interaction
ENSG00000247372	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10058171	0.91[ASN][1000 genomes]
rs10942731	0.91[ASN][1000 genomes]
rs12173218	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1477931	0.86[ASN][1000 genomes]
rs17671266	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17738746	0.88[ASN][1000 genomes]
rs1833722	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4298240	0.82[ASN][1000 genomes]
rs4703656	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704193	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4704195	0.84[ASN][1000 genomes]
rs4704198	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56371963	0.83[ASN][1000 genomes]
rs59628276	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6870235	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6890143	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6890320	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6893216	0.88[ASN][1000 genomes]
rs6896496	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73763033	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7448834	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7715608	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2758000	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759350	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv882190	chr5:74463185-74554826	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv882191	chr5:74478078-74554826	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74531600-74533400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:74531800-74533200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:74531800-74533200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr5:74531800-74533400	Active TSS	Brain Angular Gyrus	brain
5	chr5:74531800-74533400	Active TSS	Stomach Smooth Muscle	stomach
6	chr5:74532000-74533400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:74532000-74533400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr5:74532000-74533400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:74532000-74533400	Active TSS	HSMMtube	muscle
10	chr5:74532000-74533600	Active TSS	Brain Anterior Caudate	brain
11	chr5:74532000-74533600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:74532200-74533200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:74532200-74533200	Active TSS	Aorta	Aorta
14	chr5:74532200-74533200	Active TSS	Gastric	stomach
15	chr5:74532200-74533200	Active TSS	Ovary	ovary
16	chr5:74532200-74533200	Active TSS	Right Ventricle	heart
17	chr5:74532200-74533400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr5:74532200-74533400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:74532200-74533400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:74532200-74533400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr5:74532200-74533400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr5:74532200-74533400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:74532200-74533400	Active TSS	Psoas Muscle	Psoas
24	chr5:74532200-74533400	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr5:74532200-74533400	Active TSS	Rectal Smooth Muscle	rectum
26	chr5:74532200-74533400	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr5:74532200-74533400	Active TSS	HepG2	liver
28	chr5:74532200-74533400	Active TSS	NHDF-Ad	bronchial
29	chr5:74532400-74533200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:74532400-74533200	Active TSS	H9 Cell Line	embryonic stem cell
31	chr5:74532400-74533200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:74532400-74533200	Active TSS	Primary T cells from cord blood	blood
33	chr5:74532400-74533200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr5:74532400-74533200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:74532400-74533200	Active TSS	Duodenum Mucosa	Duodenum
36	chr5:74532400-74533200	Active TSS	Fetal Intestine Small	intestine
37	chr5:74532400-74533200	Active TSS	Fetal Lung	lung
38	chr5:74532400-74533200	Active TSS	Lung	lung
39	chr5:74532400-74533200	Active TSS	Small Intestine	intestine
40	chr5:74532400-74533400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr5:74532400-74533400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:74532400-74533400	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr5:74532400-74533400	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr5:74532400-74533400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:74532400-74533400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:74532400-74533400	Active TSS	Brain Cingulate Gyrus	brain
47	chr5:74532400-74533400	Active TSS	Brain Hippocampus Middle	brain
48	chr5:74532400-74533400	Active TSS	Brain Substantia Nigra	brain
49	chr5:74532400-74533400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr5:74532400-74533400	Active TSS	Fetal Intestine Large	intestine

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