Variant report

Variant	rs1018730
Chromosome Location	chr1:155910830-155910831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr1:155910392-155911622	ECC-1	luminal epithelium:	n/a	n/a
2	SPI1	chr1:155910525-155910903	HL-60	blood:	n/a	chr1:155910648-155910655 chr1:155910557-155910570
3	POLR2A	chr1:155909792-155912688	H1-neurons	neurons:	n/a	n/a
4	MYC	chr1:155910505-155911848	NB4	blood:	n/a	chr1:155911359-155911368
5	TEAD4	chr1:155910298-155910953	K562	blood:	n/a	n/a
6	POLR2A	chr1:155910339-155911478	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:155910030-155913665	HCT-116	colon:	n/a	n/a
8	CEBPB	chr1:155910643-155910974	K562	blood:	n/a	chr1:155910836-155910847
9	POLR2A	chr1:155910376-155912258	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr1:155909802-155912181	Hela-S3	cervix:	n/a	n/a
11	STAT3	chr1:155910756-155910884	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr1:155909693-155913413	GM12892	blood:	n/a	n/a
13	POLR2A	chr1:155910244-155910878	HL-60	blood:	n/a	n/a
14	POLR2A	chr1:155909923-155911677	HUVEC	blood vessel:	n/a	n/a
15	FOS	chr1:155910387-155910835	MCF10A-Er-Src	breast:	n/a	n/a
16	MYBL2	chr1:155910270-155911537	HepG2	liver:	n/a	n/a
17	CEBPB	chr1:155910657-155911007	IMR90	lung:	n/a	chr1:155910836-155910847
18	SP1	chr1:155910350-155910903	HepG2	liver:	n/a	n/a
19	NFIC	chr1:155910336-155911250	ECC-1	luminal epithelium:	n/a	n/a
20	MAX	chr1:155910318-155911565	Hela-S3	cervix:	n/a	chr1:155911359-155911368
21	MAX	chr1:155910360-155911005	A549	lung:	n/a	n/a
22	TCF12	chr1:155910323-155911778	A549	lung:	n/a	n/a
23	ZNF263	chr1:155910499-155911338	HEK293-T-REx	kidney:	n/a	chr1:155911189-155911210
24	SIN3AK20	chr1:155910461-155911026	SK-N-SH	brain:	n/a	n/a
25	EBF1	chr1:155910554-155911441	GM12878	blood:	n/a	chr1:155911039-155911048 chr1:155911147-155911156 chr1:155911037-155911050 chr1:155911037-155911048 chr1:155911039-155911049
26	SP1	chr1:155910362-155910959	A549	lung:	n/a	n/a
27	MYBL2	chr1:155910244-155911030	HepG2	liver:	n/a	n/a
28	MAX	chr1:155910297-155911455	A549	lung:	n/a	chr1:155911359-155911368
29	E2F6	chr1:155910436-155911023	A549	lung:	n/a	n/a
30	CEBPB	chr1:155910682-155910872	H1-hESC	embryonic stem cell:	n/a	chr1:155910836-155910847
31	FOS	chr1:155910250-155910875	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr1:155909899-155911644	HCT-116	colon:	n/a	n/a
33	MYC	chr1:155910251-155910890	MCF10A-Er-Src	breast:	n/a	n/a
34	SMC3	chr1:155910038-155911566	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr1:155909729-155911657	IMR90	lung:	n/a	n/a
36	POLR2A	chr1:155910433-155912725	GM12892	blood:	n/a	n/a
37	CEBPB	chr1:155910658-155910976	K562	blood:	n/a	chr1:155910836-155910847
38	POLR2A	chr1:155910442-155912176	H1-neurons	neurons:	n/a	n/a
39	POLR2A	chr1:155910019-155911610	HepG2	liver:	n/a	n/a
40	MTA3	chr1:155909869-155913685	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:155910350-155911620	HepG2	liver:	n/a	n/a
42	POLR2A	chr1:155909782-155913495	A549	lung:	n/a	n/a
43	POLR2A	chr1:155910332-155911617	HepG2	liver:	n/a	n/a
44	MBD4	chr1:155910279-155910972	HepG2	liver:	n/a	n/a
45	STAT3	chr1:155910675-155910869	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr1:155909587-155913493	GM12878	blood:	n/a	n/a
47	TEAD4	chr1:155910215-155910998	HepG2	liver:	n/a	n/a
48	POLR2A	chr1:155910414-155910883	HepG2	liver:	n/a	n/a
49	POLR2A	chr1:155909824-155912082	GM12878	blood:	n/a	n/a
50	POLR2A	chr1:155910665-155912817	GM12891	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155908071..155911067-chr1:155957605..155960580,2	K562	blood:
2	chr1:155910521..155911399-chr7:51417482..51418350,2	Hela-S3	cervix:
3	chr1:155910241..155913815-chr1:155925549..155931886,5	K562	blood:
4	chr1:155910162..155912916-chr1:156023785..156027040,3	K562	blood:
5	chr1:155901793..155904687-chr1:155910352..155912592,3	MCF-7	breast:
6	chr1:155907837..155914260-chr1:155947632..155952579,11	MCF-7	breast:
7	chr1:155908146..155911427-chr1:155945545..155949380,5	K562	blood:
8	chr1:11968395..11968983-chr1:155910418..155911275,2	Hela-S3	cervix:
9	chr1:155910573..155911491-chr3:32611402..32612375,2	Hela-S3	cervix:
10	chr1:155908602..155911262-chr1:156012651..156014394,2	K562	blood:
11	chr1:155910677..155911468-chr17:27466891..27467789,2	Hela-S3	cervix:
12	chr1:155910327..155910982-chr5:43122324..43123012,2	Hela-S3	cervix:
13	chr1:155909425..155917901-chr1:155919093..155927049,14	K562	blood:
14	chr1:155907911..155911148-chr1:155956540..155959636,3	MCF-7	breast:
15	chr1:155910039..155911830-chr1:155939353..155941637,2	K562	blood:
16	chr1:155902449..155905054-chr1:155910368..155915421,5	MCF-7	breast:
17	chr1:155903347..155907384-chr1:155909974..155912355,7	K562	blood:
18	chr1:155910238..155910908-chr14:53417733..53418428,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
RXFP4	TF binding region
ENSG00000273002	Chromatin interaction
ENSG00000116586	Chromatin interaction
ENSG00000132680	Chromatin interaction
ENSG00000073712	Chromatin interaction
ENSG00000116584	Chromatin interaction
ENSG00000263709	Chromatin interaction
ENSG00000144635	Chromatin interaction
ENSG00000196535	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1010033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1055184	1.00[ASW][hapmap];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];0.87[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10908485	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1094558	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11264421	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12039053	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12129384	0.92[AFR][1000 genomes]
rs12138833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12747344	1.00[CEU][hapmap];0.94[TSI][hapmap];0.99[EUR][1000 genomes]
rs1544119	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap]
rs1749407	0.89[EUR][1000 genomes]
rs1749408	0.84[EUR][1000 genomes]
rs1749409	1.00[ASW][hapmap];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];0.87[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1765275	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1964951	0.96[EUR][1000 genomes]
rs2275071	0.95[ASN][1000 genomes]
rs2275079	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2275081	1.00[ASW][hapmap];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];0.87[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364402	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2364404	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28379575	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2886069	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34802187	0.99[EUR][1000 genomes]
rs35138477	0.85[EUR][1000 genomes]
rs35374730	0.96[EUR][1000 genomes]
rs35588936	0.89[CEU][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs35730001	0.96[EUR][1000 genomes]
rs3738587	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3768280	0.94[ASW][hapmap];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];0.87[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4412586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4661160	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4661162	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4661170	0.99[EUR][1000 genomes]
rs4661172	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.99[MKK][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs493446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs506688	0.94[ASW][hapmap];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];0.87[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527113	1.00[ASW][hapmap];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];0.87[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs536870	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs572609	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605025	1.00[CEU][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6660802	1.00[ASW][hapmap];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];0.87[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs708614	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71628697	0.97[EUR][1000 genomes]
rs71628699	0.86[EUR][1000 genomes]
rs822502	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs822503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs822519	0.89[ASW][hapmap];1.00[CEU][hapmap]
rs822653	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155904800-155911000	Weak transcription	Gastric	stomach
2	chr1:155905000-155913000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:155905000-155914600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:155905000-155914600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:155905000-155915200	Weak transcription	Fetal Brain Female	brain
6	chr1:155905000-155915800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:155905000-155915800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:155905000-155916000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:155905000-155916200	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:155905000-155945600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:155905200-155914600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:155905400-155915800	Weak transcription	Thymus	Thymus
13	chr1:155905400-155918400	Weak transcription	Psoas Muscle	Psoas
14	chr1:155908000-155911400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:155908000-155915800	Enhancers	Primary B cells from cord blood	blood
16	chr1:155908000-155915800	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:155908200-155913600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:155908200-155914800	Enhancers	Fetal Muscle Leg	muscle
19	chr1:155908400-155911000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:155908400-155911200	Weak transcription	HSMMtube	muscle
21	chr1:155908600-155912600	Enhancers	Lung	lung
22	chr1:155908600-155913200	Enhancers	Left Ventricle	heart
23	chr1:155908800-155916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:155909200-155911800	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:155909200-155911800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr1:155909400-155911000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr1:155909400-155913600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:155909400-155914600	Enhancers	GM12878-XiMat	blood
29	chr1:155909400-155916000	Enhancers	Adipose Nuclei	Adipose
30	chr1:155909600-155911800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:155909600-155912000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:155909600-155914200	Enhancers	Fetal Muscle Trunk	muscle
33	chr1:155909600-155916200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr1:155909600-155916400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:155909800-155911200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:155909800-155911200	Enhancers	Brain Cingulate Gyrus	brain
37	chr1:155909800-155911400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr1:155909800-155911600	Enhancers	Primary T cells from cord blood	blood
39	chr1:155909800-155911600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:155909800-155911600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:155909800-155911600	Enhancers	Ovary	ovary
42	chr1:155909800-155911600	Enhancers	K562	blood
43	chr1:155909800-155911800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr1:155909800-155911800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:155909800-155911800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr1:155909800-155912000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:155909800-155912000	Flanking Active TSS	Hela-S3	cervix
48	chr1:155909800-155912000	Enhancers	NH-A	brain
49	chr1:155909800-155912200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:155909800-155912200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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