Variant report

Variant	rs13078191
Chromosome Location	chr3:24537223-24537224
allele	A/C
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	CTCF	chr3:24535467-24537699	A549	lung:	n/a	chr3:24536750-24536759 chr3:24535554-24535567 chr3:24536379-24536392 chr3:24536385-24536398
2	CEBPD	chr3:24536732-24537425	K562	blood:	n/a	n/a
3	ELF1	chr3:24536469-24537407	K562	blood:	n/a	chr3:24536712-24536724 chr3:24536792-24536804 chr3:24536793-24536802 chr3:24536796-24536805 chr3:24536717-24536726 chr3:24536948-24536960
4	POLR2A	chr3:24536732-24537296	H1-hESC	embryonic stem cell:	n/a	n/a
5	HA-E2F1	chr3:24535299-24537654	MCF-7	breast:	n/a	chr3:24536718-24536728 chr3:24536394-24536403 chr3:24537395-24537404 chr3:24536790-24536799 chr3:24536794-24536804 chr3:24536392-24536402 chr3:24536791-24536801 chr3:24536633-24536643 chr3:24537090-24537107
6	CTCF	chr3:24537185-24537283	Pancreas_OC	pancreas:	n/a	n/a
7	CREB1	chr3:24536810-24537255	A549	lung:	n/a	n/a
8	HEY1	chr3:24535449-24537529	K562	blood:	n/a	chr3:24536750-24536765 chr3:24536479-24536494 chr3:24536491-24536506 chr3:24536707-24536722 chr3:24536792-24536807
9	YY1	chr3:24537149-24537558	A549	lung:	n/a	chr3:24537392-24537403 chr3:24537405-24537415 chr3:24537395-24537404
10	RFX5	chr3:24537096-24537281	K562	blood:	n/a	n/a
11	MAX	chr3:24536916-24537537	MCF-7	breast:	n/a	chr3:24537396-24537406
12	ZEB1	chr3:24535519-24537509	HepG2	liver:	n/a	chr3:24536969-24536980
13	CREB1	chr3:24535582-24537508	K562	blood:	n/a	n/a
14	POLR2A	chr3:24536881-24537438	HepG2	liver:	n/a	n/a
15	SIN3AK20	chr3:24536966-24537302	K562	blood:	n/a	n/a
16	EGR1	chr3:24535548-24537617	HCT-116	colon:	n/a	chr3:24536378-24536391 chr3:24536007-24536017 chr3:24536005-24536019 chr3:24536379-24536389 chr3:24536377-24536392 chr3:24537391-24537400 chr3:24536950-24536963 chr3:24536007-24536017 chr3:24536950-24536963 chr3:24536122-24536135 chr3:24536007-24536018 chr3:24537396-24537409 chr3:24536378-24536391 chr3:24536372-24536385 chr3:24536951-24536962 chr3:24537044-24537054 chr3:24536007-24536016 chr3:24536951-24536961 chr3:24536122-24536132 chr3:24536006-24536019 chr3:24536950-24536963 chr3:24537394-24537404 chr3:24537396-24537406
17	MAX	chr3:24535349-24537594	K562	blood:	n/a	chr3:24536125-24536135 chr3:24537396-24537406 chr3:24536847-24536857 chr3:24536381-24536391 chr3:24536143-24536153
18	PML	chr3:24536548-24537517	K562	blood:	n/a	n/a
19	MXI1	chr3:24535442-24537411	HepG2	liver:	n/a	n/a
20	REST	chr3:24537014-24537356	K562	blood:	n/a	chr3:24537332-24537345 chr3:24537226-24537239
21	POLR2A	chr3:24535466-24537678	K562	blood:	n/a	n/a
22	CBX3	chr3:24536803-24537440	K562	blood:	n/a	n/a
23	NR2F2	chr3:24536111-24537511	K562	blood:	n/a	n/a
24	TAF1	chr3:24536073-24537496	K562	blood:	n/a	n/a
25	CTCF	chr3:24537120-24537270	NHEK	skin:	n/a	n/a
26	EP300	chr3:24535384-24537629	ECC-1	luminal epithelium:	n/a	chr3:24536788-24536804 chr3:24536792-24536808 chr3:24536879-24536895 chr3:24536719-24536728 chr3:24536794-24536803 chr3:24536386-24536402
27	HA-E2F1	chr3:24535794-24537412	Hela-S3	cervix:	n/a	chr3:24536718-24536728 chr3:24536394-24536403 chr3:24537395-24537404 chr3:24536790-24536799 chr3:24536794-24536804 chr3:24536392-24536402 chr3:24536791-24536801 chr3:24536633-24536643 chr3:24537090-24537107
28	MAZ	chr3:24535500-24537843	HepG2	liver:	n/a	chr3:24536125-24536135 chr3:24537396-24537406 chr3:24536847-24536857 chr3:24536381-24536391 chr3:24536143-24536153
29	POLR2A	chr3:24535758-24537506	K562	blood:	n/a	n/a
30	TAF7	chr3:24536807-24537427	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr3:24536556-24537340	K562	blood:	n/a	chr3:24536750-24536759
32	BCLAF1	chr3:24536390-24537434	K562	blood:	n/a	chr3:24537233-24537242 chr3:24536822-24536835 chr3:24536795-24536804 chr3:24536942-24536955 chr3:24536885-24536893 chr3:24536610-24536618 chr3:24536792-24536801 chr3:24536796-24536809 chr3:24537394-24537403 chr3:24536718-24536727 chr3:24536792-24536805
33	MAX	chr3:24535656-24537640	HCT-116	colon:	n/a	chr3:24536125-24536135 chr3:24537396-24537406 chr3:24536847-24536857 chr3:24536381-24536391 chr3:24536143-24536153
34	POLR2A	chr3:24536928-24537415	HepG2	liver:	n/a	n/a
35	ZNF384	chr3:24536714-24537399	K562	blood:	n/a	n/a
36	EP300	chr3:24536981-24537411	K562	blood:	n/a	n/a
37	RFX5	chr3:24537121-24537238	HepG2	liver:	n/a	n/a
38	POLR2A	chr3:24536939-24537307	H1-hESC	embryonic stem cell:	n/a	n/a
39	ETS1	chr3:24536450-24537481	K562	blood:	n/a	chr3:24536715-24536726 chr3:24537395-24537406 chr3:24536796-24536807 chr3:24536491-24536504 chr3:24536790-24536801 chr3:24536793-24536804
40	POLR2A	chr3:24535405-24537667	HepG2	liver:	n/a	n/a
41	SMARCB1	chr3:24535448-24537477	Hela-S3	cervix:	n/a	n/a
42	MYC	chr3:24537169-24537328	MCF10A-Er-Src	breast:	n/a	n/a
43	TEAD4	chr3:24536807-24537544	K562	blood:	n/a	n/a
44	SMC3	chr3:24537062-24537233	HepG2	liver:	n/a	n/a
45	E2F6	chr3:24535505-24537406	K562	blood:	n/a	chr3:24536718-24536728 chr3:24536394-24536403 chr3:24537395-24537404 chr3:24536790-24536799 chr3:24536794-24536804 chr3:24536392-24536402 chr3:24536791-24536801 chr3:24536633-24536643 chr3:24537090-24537107
46	BCLAF1	chr3:24536806-24537369	K562	blood:	n/a	chr3:24537233-24537242 chr3:24536822-24536835 chr3:24536942-24536955 chr3:24536885-24536893
47	MAX	chr3:24535393-24537604	ECC-1	luminal epithelium:	n/a	chr3:24536125-24536135 chr3:24537396-24537406 chr3:24536847-24536857 chr3:24536381-24536391 chr3:24536143-24536153
48	BHLHE40	chr3:24535577-24537465	K562	blood:	n/a	chr3:24536711-24536727 chr3:24536474-24536490 chr3:24536784-24536800
49	EGR1	chr3:24536684-24537254	ECC-1	luminal epithelium:	n/a	chr3:24536950-24536963 chr3:24536950-24536963 chr3:24536951-24536962 chr3:24537044-24537054 chr3:24536951-24536961 chr3:24536950-24536963
50	SMARCC1	chr3:24535422-24537518	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:24537177-24537227	AoSMC	blood vessel:	n/a
2	chr3:24537182-24537232	PrEC	prostate:	n/a
3	chr3:24537182-24537232	ovcar-3	ovarian:	n/a
4	chr3:24537177-24537227	HAEpiC	amniotic membrane:	n/a
5	chr3:24537177-24537227	NHDF-neo	bronchial:	n/a
6	chr3:24537177-24537227	HEEpiC	esophagus:	n/a
7	chr3:24537177-24537227	H1-hESC	embryonic stem cell:	embryo
8	chr3:24537182-24537232	BE2_C	brain:	n/a
9	chr3:24537182-24537232	AG09309	skin:	n/a
10	chr3:24537182-24537232	SKMC	muscle:	n/a
11	chr3:24537177-24537227	SAEC	small airway:	n/a
12	chr3:24537177-24537227	Hepatocyte	liver:	n/a
13	chr3:24537182-24537232	HRCEpiC	kidney:	n/a
14	chr3:24537177-24537227	Hela-S3	cervix:	n/a
15	chr3:24537177-24537227	HNPCEpiC	eye:	n/a
16	chr3:24537177-24537227	ProgFib	skin:	n/a
17	chr3:24537182-24537232	Caco-2	colon:	n/a
18	chr3:24537177-24537227	HIPEpiC	eye:	n/a
19	chr3:24537182-24537232	SK-N-SH_RA	brain:	n/a
20	chr3:24537182-24537232	NT2-D1	testis:	n/a
21	chr3:24537177-24537227	SK-N-SH	brain:	n/a
22	chr3:24537177-24537227	NT2-D1	testis:	n/a
23	chr3:24537182-24537232	NH-A	brain:	n/a
24	chr3:24537182-24537232	BJ	skin:	n/a
25	chr3:24537177-24537227	GM06990	blood:	n/a
26	chr3:24537182-24537232	ECC-1	luminal epithelium:	n/a
27	chr3:24537177-24537227	HRE	kidney:	n/a
28	chr3:24537177-24537227	A549	lung:	n/a
29	chr3:24537177-24537227	AG04449	skin:	fetal
30	chr3:24537182-24537232	Hela-S3	cervix:	n/a
31	chr3:24537182-24537232	HCPEpiC	choroid plexus:	n/a
32	chr3:24537182-24537232	Hepatocyte	liver:	n/a
33	chr3:24537177-24537227	NB4	blood:	n/a
34	chr3:24537182-24537232	Jurkat	blood:	n/a
35	chr3:24537177-24537227	NH-A	brain:	n/a
36	chr3:24537182-24537232	GM12891	blood:	n/a
37	chr3:24537177-24537227	AG04450	lung:	fetal
38	chr3:24537177-24537227	GM12878	blood:	n/a
39	chr3:24537177-24537227	K562	blood:	n/a
40	chr3:24537182-24537232	HCF	heart:	n/a
41	chr3:24537177-24537227	Jurkat	blood:	n/a
42	chr3:24537177-24537227	AG09319	gingival:	n/a
43	chr3:24537177-24537227	SKMC	muscle:	n/a
44	chr3:24537182-24537232	MCF10A-Er-Src	breast:	n/a
45	chr3:24537182-24537232	AG04450	lung:	fetal
46	chr3:24537182-24537232	HRPEpiC	eye:	n/a
47	chr3:24537182-24537232	AoSMC	blood vessel:	n/a
48	chr3:24537177-24537227	HRCEpiC	kidney:	n/a
49	chr3:24537177-24537227	Caco-2	colon:	n/a
50	chr3:24537177-24537227	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:15481970..15484434-chr3:24536360..24537912,2	MCF-7	breast:
2	chr3:24536865..24538833-chr6:30851271..30852816,2	MCF-7	breast:
3	chr3:23958536..23961065-chr3:24535525..24538143,3	K562	blood:
4	chr3:23846193..23848940-chr3:24535065..24537255,2	K562	blood:
5	chr3:24535191..24540424-chr3:24558354..24564929,10	K562	blood:
6	chr3:23985869..23987641-chr3:24536460..24539004,2	MCF-7	breast:
7	chr2:208031298..208032808-chr3:24536314..24538990,2	MCF-7	breast:
8	chr3:24536363..24538620-chr3:25832197..25835181,2	K562	blood:
9	chr3:23851889..23854305-chr3:24536164..24537886,2	K562	blood:
10	chr3:24535945..24538703-chr3:24560979..24563838,8	K562	blood:
11	chr3:24497472..24501858-chr3:24535149..24538807,5	MCF-7	breast:
12	chr3:24534533..24538643-chr3:24561395..24564731,10	MCF-7	breast:
13	chr3:24534014..24541118-chr3:24556364..24565705,22	MCF-7	breast:

Variant related genes	Relation type
THRB-AS1	TF binding region
THRB	TF binding region
THRB-AS1	CpG island
THRB	CpG island
ENSG00000118263	Chromatin interaction
ENSG00000224822	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000151093	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000170142	Chromatin interaction
ENSG00000223791	Chromatin interaction
ENSG00000265028	Chromatin interaction
ENSG00000249786	Chromatin interaction
ENSG00000206562	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000174738	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1865710	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865711	0.96[ASN][1000 genomes]
rs3749376	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55929411	0.81[ASN][1000 genomes]
rs56783261	0.92[ASN][1000 genomes]
rs57751578	0.90[ASN][1000 genomes]
rs58388581	0.96[ASN][1000 genomes]
rs58932894	0.92[ASN][1000 genomes]
rs61063562	0.92[ASN][1000 genomes]
rs73152119	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73823340	0.96[ASN][1000 genomes]
rs73823342	0.90[ASN][1000 genomes]
rs73823348	0.81[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	nsv834641	chr3:24465862-24633738	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv834642	chr3:24475558-24640593	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1012975	chr3:24500706-24615644	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv999384	chr3:24525345-24656873	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	esv3341544	chr3:24535373-24538321	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24533600-24537800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr3:24533800-24537400	Active TSS	Brain Angular Gyrus	brain
3	chr3:24534400-24538200	Active TSS	Aorta	Aorta
4	chr3:24534600-24537400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr3:24534600-24537600	Active TSS	Brain Anterior Caudate	brain
6	chr3:24534600-24537600	Active TSS	Brain Cingulate Gyrus	brain
7	chr3:24534800-24537400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr3:24534800-24537400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:24534800-24537400	Active TSS	Rectal Smooth Muscle	rectum
10	chr3:24534800-24537400	Active TSS	Stomach Mucosa	stomach
11	chr3:24535000-24537400	Active TSS	Colon Smooth Muscle	Colon
12	chr3:24535000-24537600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr3:24535000-24537600	Active TSS	Right Ventricle	heart
14	chr3:24535200-24537400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:24535200-24537400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr3:24535200-24537400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr3:24535200-24537400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:24535200-24537400	Active TSS	Brain Substantia Nigra	brain
19	chr3:24535200-24537400	Bivalent/Poised TSS	Fetal Thymus	thymus
20	chr3:24535200-24537400	Active TSS	NHDF-Ad	bronchial
21	chr3:24535200-24537600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:24535200-24537600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr3:24535200-24537600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:24535200-24537600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:24535200-24537600	Active TSS	Fetal Lung	lung
26	chr3:24535200-24537600	Active TSS	Left Ventricle	heart
27	chr3:24535200-24537800	Active TSS	Duodenum Mucosa	Duodenum
28	chr3:24535200-24537800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr3:24535400-24537400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr3:24535400-24537400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
31	chr3:24535400-24537400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr3:24535400-24537400	Active TSS	Gastric	stomach
33	chr3:24535400-24537400	Bivalent/Poised TSS	Small Intestine	intestine
34	chr3:24535400-24537400	Bivalent/Poised TSS	Thymus	Thymus
35	chr3:24535400-24537400	Bivalent/Poised TSS	Spleen	Spleen
36	chr3:24535400-24537400	Active TSS	Hela-S3	cervix
37	chr3:24535400-24537600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
38	chr3:24535400-24537600	Active TSS	Esophagus	oesophagus
39	chr3:24535400-24537600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr3:24535600-24537400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr3:24535600-24537400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:24535600-24537400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:24535600-24537600	Active TSS	Pancreas	Pancrea
44	chr3:24535600-24537800	Active TSS	K562	blood
45	chr3:24535800-24537400	Active TSS	Fetal Kidney	kidney
46	chr3:24535800-24537400	Active TSS	HSMM	muscle
47	chr3:24535800-24537600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:24535800-24537600	Active TSS	A549	lung
49	chr3:24536000-24537400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:24536000-24537400	Active TSS	Duodenum Smooth Muscle	Duodenum

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