Variant report

Variant	rs73081205
Chromosome Location	chr3:47517670-47517671
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	NRF1	chr3:47517277-47517702	GM12878	blood:	n/a	chr3:47517482-47517493 chr3:47517502-47517513 chr3:47517499-47517513 chr3:47517502-47517516 chr3:47517502-47517511 chr3:47517501-47517512
2	CEBPD	chr3:47517106-47517687	HepG2	liver:	n/a	n/a
3	RAD21	chr3:47517367-47517688	GM12878	blood:	n/a	chr3:47517551-47517570 chr3:47517541-47517550 chr3:47517472-47517484 chr3:47517535-47517554
4	FOXM1	chr3:47517356-47517802	GM12878	blood:	n/a	n/a
5	CTCF	chr3:47517332-47517682	MCF-7	breast:	n/a	chr3:47517550-47517568 chr3:47517538-47517554 chr3:47517537-47517555 chr3:47517532-47517553 chr3:47517540-47517550 chr3:47517543-47517552
6	TCF12	chr3:47517003-47517678	GM12878	blood:	n/a	n/a
7	RAD21	chr3:47517274-47517874	HepG2	liver:	n/a	chr3:47517551-47517570 chr3:47517541-47517550 chr3:47517472-47517484 chr3:47517535-47517554
8	POLR2A	chr3:47516848-47517803	GM12892	blood:	n/a	n/a
9	EP300	chr3:47517081-47517842	HepG2	liver:	n/a	chr3:47517474-47517490
10	E2F6	chr3:47517286-47517687	A549	lung:	n/a	chr3:47517460-47517471 chr3:47517461-47517473 chr3:47517503-47517512 chr3:47517469-47517478
11	ZBTB7A	chr3:47516851-47517785	K562	blood:	n/a	chr3:47517431-47517438
12	EP300	chr3:47517331-47517683	SK-N-SH_RA	brain:	n/a	chr3:47517474-47517490
13	MYC	chr3:47516786-47517685	K562	blood:	n/a	chr3:47517478-47517493
14	MAFK	chr3:47517414-47517672	K562	blood:	n/a	n/a
15	MYBL2	chr3:47517148-47517784	HepG2	liver:	n/a	n/a
16	ELF1	chr3:47516933-47517685	K562	blood:	n/a	chr3:47517472-47517484
17	CREB1	chr3:47516959-47517830	H1-hESC	embryonic stem cell:	n/a	n/a
18	MXI1	chr3:47516848-47517734	GM12878	blood:	n/a	n/a
19	REST	chr3:47516641-47517796	HL-60	blood:	n/a	chr3:47517166-47517175 chr3:47517221-47517231 chr3:47516651-47516664
20	POU2F2	chr3:47517482-47517675	GM12878	blood:	n/a	n/a
21	HEY1	chr3:47517475-47517739	HepG2	liver:	n/a	n/a
22	YY1	chr3:47516949-47517777	GM12891	blood:	n/a	chr3:47517147-47517161 chr3:47517469-47517478 chr3:47517230-47517241
23	SMC3	chr3:47517370-47517941	GM12878	blood:	n/a	chr3:47517539-47517553
24	RAD21	chr3:47517241-47517760	HepG2	liver:	n/a	chr3:47517551-47517570 chr3:47517541-47517550 chr3:47517472-47517484 chr3:47517535-47517554
25	POLR2A	chr3:47516805-47517895	K562	blood:	n/a	n/a
26	MAX	chr3:47516825-47517867	ECC-1	luminal epithelium:	n/a	chr3:47517478-47517493
27	CTCF	chr3:47517346-47517682	SK-N-SH_RA	brain:	n/a	chr3:47517550-47517568 chr3:47517538-47517554 chr3:47517537-47517555 chr3:47517532-47517553 chr3:47517540-47517550 chr3:47517543-47517552
28	POLR2A	chr3:47516567-47517789	K562	blood:	n/a	n/a
29	RFX5	chr3:47516940-47517676	HepG2	liver:	n/a	n/a
30	CTCF	chr3:47517054-47517751	K562	blood:	n/a	chr3:47517059-47517072 chr3:47517550-47517568 chr3:47517538-47517554 chr3:47517252-47517265 chr3:47517537-47517555 chr3:47517532-47517553 chr3:47517540-47517550 chr3:47517543-47517552
31	CTCF	chr3:47517338-47517745	H1-hESC	embryonic stem cell:	n/a	chr3:47517550-47517568 chr3:47517538-47517554 chr3:47517537-47517555 chr3:47517532-47517553 chr3:47517540-47517550 chr3:47517543-47517552
32	PML	chr3:47517351-47517962	K562	blood:	n/a	n/a
33	HDAC2	chr3:47516666-47517727	HepG2	liver:	n/a	n/a
34	MAX	chr3:47517178-47517791	MCF-7	breast:	n/a	chr3:47517478-47517493
35	GABPA	chr3:47516843-47517849	K562	blood:	n/a	chr3:47517502-47517513 chr3:47517499-47517513 chr3:47517502-47517516 chr3:47517502-47517511
36	SIN3AK20	chr3:47516844-47517708	PANC-1	pancreas:	n/a	n/a
37	MXI1	chr3:47516481-47517793	HepG2	liver:	n/a	n/a
38	SMC3	chr3:47516476-47518141	SK-N-SH	brain:	n/a	chr3:47517062-47517072 chr3:47517539-47517553
39	PAX5	chr3:47517328-47517813	GM12878	blood:	n/a	n/a
40	YY1	chr3:47517024-47517802	ECC-1	luminal epithelium:	n/a	chr3:47517147-47517161 chr3:47517469-47517478 chr3:47517230-47517241
41	POLR2A	chr3:47516972-47517819	Raji	blood:	n/a	n/a
42	CEBPB	chr3:47517352-47517793	K562	blood:	n/a	n/a
43	CCNT2	chr3:47516491-47517751	K562	blood:	n/a	chr3:47517097-47517106
44	RAD21	chr3:47517255-47517892	H1-hESC	embryonic stem cell:	n/a	chr3:47517551-47517570 chr3:47517541-47517550 chr3:47517472-47517484 chr3:47517535-47517554
45	EGR1	chr3:47516935-47517760	ECC-1	luminal epithelium:	n/a	chr3:47517176-47517186 chr3:47517503-47517512 chr3:47517176-47517187 chr3:47517092-47517105 chr3:47517362-47517371 chr3:47517174-47517188 chr3:47517175-47517188 chr3:47517175-47517188 chr3:47517468-47517478
46	YY1	chr3:47517273-47517728	H1-hESC	embryonic stem cell:	n/a	chr3:47517469-47517478
47	CEBPB	chr3:47517163-47517680	Hela-S3	cervix:	n/a	n/a
48	SP1	chr3:47516999-47517724	GM12878	blood:	n/a	chr3:47517093-47517107 chr3:47517097-47517106 chr3:47517114-47517128
49	CTCF	chr3:47517358-47518012	HCT-116	colon:	n/a	chr3:47517550-47517568 chr3:47517538-47517554 chr3:47517537-47517555 chr3:47517532-47517553 chr3:47517540-47517550 chr3:47517543-47517552
50	MYBL2	chr3:47517176-47517716	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:47517621-47517671	HPAEpiC	pulmonary alveolar:	n/a
2	chr3:47517624-47517674	GM12891	blood:	n/a
3	chr3:47517624-47517674	HUVEC	blood vessel:	n/a
4	chr3:47517624-47517674	AG04449	skin:	fetal
5	chr3:47517621-47517671	HAEpiC	amniotic membrane:	n/a
6	chr3:47517624-47517674	HEEpiC	esophagus:	n/a
7	chr3:47517621-47517671	Hela-S3	cervix:	n/a
8	chr3:47517621-47517671	AoSMC	blood vessel:	n/a
9	chr3:47517621-47517671	HMEC	breast:	n/a
10	chr3:47517624-47517674	AG09309	skin:	n/a
11	chr3:47517621-47517671	PFSK-1	brain:	n/a
12	chr3:47517621-47517671	SKMC	muscle:	n/a
13	chr3:47517624-47517674	RPTEC	kidney:	n/a
14	chr3:47517621-47517671	GM12892	blood:	n/a
15	chr3:47517621-47517671	HIPEpiC	eye:	n/a
16	chr3:47517621-47517671	AG09319	gingival:	n/a
17	chr3:47517621-47517671	RPTEC	kidney:	n/a
18	chr3:47517624-47517674	Hepatocyte	liver:	n/a
19	chr3:47517621-47517671	SK-N-SH_RA	brain:	n/a
20	chr3:47517621-47517671	ovcar-3	ovarian:	n/a
21	chr3:47517621-47517671	ECC-1	luminal epithelium:	n/a
22	chr3:47517621-47517671	ProgFib	skin:	n/a
23	chr3:47517624-47517674	NT2-D1	testis:	n/a
24	chr3:47517624-47517674	HL-60	blood:	n/a
25	chr3:47517624-47517674	U87	brain:	n/a
26	chr3:47517621-47517671	BJ	skin:	n/a
27	chr3:47517624-47517674	GM19239	blood:	n/a
28	chr3:47517624-47517674	NHDF-neo	bronchial:	n/a
29	chr3:47517621-47517671	Hepatocyte	liver:	n/a
30	chr3:47517621-47517671	AG04449	skin:	fetal
31	chr3:47517624-47517674	Hela-S3	cervix:	n/a
32	chr3:47517624-47517674	AG04450	lung:	fetal
33	chr3:47517621-47517671	HepG2	liver:	n/a
34	chr3:47517621-47517671	HRCEpiC	kidney:	n/a
35	chr3:47517621-47517671	H1-hESC	embryonic stem cell:	embryo
36	chr3:47517621-47517671	GM06990	blood:	n/a
37	chr3:47517621-47517671	HRE	kidney:	n/a
38	chr3:47517624-47517674	MCF10A-Er-Src	breast:	n/a
39	chr3:47517624-47517674	LNCaP	prostate:	n/a
40	chr3:47517621-47517671	GM19239	blood:	n/a
41	chr3:47517624-47517674	PFSK-1	brain:	n/a
42	chr3:47517624-47517674	AoSMC	blood vessel:	n/a
43	chr3:47517621-47517671	Caco-2	colon:	n/a
44	chr3:47517621-47517671	HUVEC	blood vessel:	n/a
45	chr3:47517624-47517674	SK-N-SH	brain:	n/a
46	chr3:47517621-47517671	CMK	blood:	n/a
47	chr3:47517624-47517674	A549	lung:	n/a
48	chr3:47517621-47517671	PANC-1	pancreas:	n/a
49	chr3:47517621-47517671	HRPEpiC	eye:	n/a
50	chr3:47517621-47517671	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:47421161..47424382-chr3:47515710..47518539,3	MCF-7	breast:
2	chr3:47515959..47519018-chr3:47554813..47558530,7	K562	blood:
3	chr3:47516853..47519140-chr3:47552540..47554804,2	K562	blood:
4	chr3:47462059..47463174-chr3:47516921..47518022,7	K562	blood:
5	chr3:47462473..47463111-chr3:47517060..47518005,2	MCF-7	breast:
6	chr3:47517000..47518898-chr3:47553503..47555286,3	MCF-7	breast:
7	chr3:47421212..47424258-chr3:47516702..47519185,3	K562	blood:
8	chr3:47462559..47463377-chr3:47517045..47517970,3	MCF-7	breast:
9	chr3:47515849..47519127-chr3:47552237..47555413,3	MCF-7	breast:
10	chr3:47463570..47464475-chr3:47516993..47518028,5	MCF-7	breast:
11	chr3:47514858..47522453-chr3:47552535..47558710,16	K562	blood:

Variant related genes	Relation type
SCAP	TF binding region
SCAP	CpG island
ENSG00000260236	Chromatin interaction
ENSG00000076201	Chromatin interaction
ENSG00000163832	Chromatin interaction
ENSG00000114650	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1038394	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10865946	0.83[EUR][1000 genomes]
rs11130128	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11130129	0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11130132	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11130133	0.89[EUR][1000 genomes]
rs11130137	0.85[EUR][1000 genomes]
rs11705957	0.84[EUR][1000 genomes]
rs11707895	0.86[EUR][1000 genomes]
rs11711265	0.89[EUR][1000 genomes]
rs11711824	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11712445	0.84[EUR][1000 genomes]
rs11713413	0.83[EUR][1000 genomes]
rs11716763	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11719877	0.84[EUR][1000 genomes]
rs11914913	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11914932	0.89[EUR][1000 genomes]
rs11925823	0.83[EUR][1000 genomes]
rs12486969	0.83[EUR][1000 genomes]
rs12487736	0.81[EUR][1000 genomes]
rs12489046	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12490058	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12492433	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12497225	0.84[EUR][1000 genomes]
rs12630641	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12632132	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12636851	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13059519	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13064843	0.84[EUR][1000 genomes]
rs13075233	0.84[EUR][1000 genomes]
rs13079098	0.82[EUR][1000 genomes]
rs1531875	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17784882	0.91[EUR][1000 genomes]
rs1872164	0.84[EUR][1000 genomes]
rs2062278	0.84[EUR][1000 genomes]
rs2101247	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2291298	0.89[EUR][1000 genomes]
rs34634681	0.85[EUR][1000 genomes]
rs3736177	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3816779	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4599332	0.85[EUR][1000 genomes]
rs4858805	0.83[EUR][1000 genomes]
rs4858848	0.82[EUR][1000 genomes]
rs4858856	0.87[EUR][1000 genomes]
rs4858868	0.86[EUR][1000 genomes]
rs4858894	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56032309	0.84[EUR][1000 genomes]
rs56351005	0.83[EUR][1000 genomes]
rs57346147	0.84[EUR][1000 genomes]
rs59586735	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60369822	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62248599	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62248603	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62248605	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62260710	0.88[EUR][1000 genomes]
rs62260711	0.88[EUR][1000 genomes]
rs62260741	0.83[EUR][1000 genomes]
rs6765990	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6787422	0.84[EUR][1000 genomes]
rs6790763	0.84[EUR][1000 genomes]
rs6792461	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6792488	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6800271	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7628631	0.89[EUR][1000 genomes]
rs7641010	0.80[EUR][1000 genomes]
rs7649234	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7651194	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7651762	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs878659	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs922957	0.84[EUR][1000 genomes]
rs9683033	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9683177	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv3806	chr3:47488784-47518133	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47515200-47517800	Active TSS	GM12878-XiMat	blood
2	chr3:47515400-47518400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:47515600-47518000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:47515800-47518000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr3:47515800-47518000	Active TSS	Hela-S3	cervix
6	chr3:47516000-47517800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr3:47516000-47517800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr3:47516000-47517800	Active TSS	HMEC	breast
9	chr3:47516000-47517800	Active TSS	NHEK	skin
10	chr3:47516000-47518000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:47516000-47518000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr3:47516000-47518000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr3:47516000-47518000	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr3:47516000-47518000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:47516000-47518000	Active TSS	A549	lung
16	chr3:47516000-47518000	Active TSS	NHDF-Ad	bronchial
17	chr3:47516000-47518000	Active TSS	NHLF	lung
18	chr3:47516000-47518200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:47516000-47518200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:47516000-47518200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr3:47516200-47517800	Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:47516200-47517800	Active TSS	Esophagus	oesophagus
23	chr3:47516200-47518000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:47516200-47518000	Active TSS	Left Ventricle	heart
25	chr3:47516200-47518000	Active TSS	Lung	lung
26	chr3:47516200-47518200	Active TSS	HSMMtube	muscle
27	chr3:47516400-47517800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr3:47516400-47517800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:47516400-47517800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:47516400-47517800	Active TSS	Gastric	stomach
31	chr3:47516400-47518000	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr3:47516400-47518000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:47516400-47518000	Active TSS	Aorta	Aorta
34	chr3:47516400-47518000	Active TSS	Colon Smooth Muscle	Colon
35	chr3:47516400-47518000	Active TSS	Duodenum Mucosa	Duodenum
36	chr3:47516400-47518000	Active TSS	Fetal Kidney	kidney
37	chr3:47516400-47518000	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr3:47516400-47518000	Active TSS	Ovary	ovary
39	chr3:47516400-47518200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:47516400-47518200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:47516400-47518200	Active TSS	Psoas Muscle	Psoas
42	chr3:47516600-47517800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:47516600-47517800	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr3:47516600-47517800	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr3:47516600-47517800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:47516600-47517800	Active TSS	Brain Substantia Nigra	brain
47	chr3:47516600-47517800	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr3:47516600-47517800	Active TSS	Fetal Stomach	stomach
49	chr3:47516600-47517800	Active TSS	Rectal Smooth Muscle	rectum
50	chr3:47516600-47517800	Active TSS	Sigmoid Colon	Sigmoid Colon

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