Variant report

Variant	rs73001391
Chromosome Location	chr1:155099963-155099964
allele	C/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	MAZ	chr1:155098626-155101411	IMR90	lung:	n/a	chr1:155098727-155098736 chr1:155100204-155100214 chr1:155098728-155098735 chr1:155098726-155098736 chr1:155098725-155098740 chr1:155098726-155098737 chr1:155101097-155101113
2	NR2F2	chr1:155098170-155100755	MCF-7	breast:	n/a	n/a
3	GATA3	chr1:155098296-155100718	MCF-7	breast:	n/a	chr1:155099622-155099632
4	RXRA	chr1:155098270-155100593	HepG2	liver:	n/a	chr1:155099114-155099121
5	REST	chr1:155099380-155100227	A549	lung:	n/a	chr1:155100119-155100132
6	RCOR1	chr1:155098173-155100522	Hela-S3	cervix:	n/a	n/a
7	STAT3	chr1:155099320-155100405	MCF10A-Er-Src	breast:	n/a	chr1:155100223-155100235 chr1:155099768-155099779 chr1:155099892-155099904
8	MAX	chr1:155099268-155100562	ECC-1	luminal epithelium:	n/a	chr1:155100204-155100214
9	FOS	chr1:155099531-155099976	MCF10A-Er-Src	breast:	n/a	n/a
10	SIN3AK20	chr1:155099573-155100001	HepG2	liver:	n/a	n/a
11	SIN3AK20	chr1:155097963-155100883	MCF-7	breast:	n/a	n/a
12	TCF7L2	chr1:155099368-155100007	HEK293	kidney:	n/a	chr1:155099798-155099812
13	BHLHE40	chr1:155099697-155100210	K562	blood:	n/a	chr1:155100065-155100081
14	ZBTB7A	chr1:155099898-155100532	K562	blood:	n/a	n/a
15	E2F6	chr1:155099633-155100172	K562	blood:	n/a	n/a
16	PAX5	chr1:155099696-155099968	GM12878	blood:	n/a	chr1:155099858-155099876
17	ZBTB33	chr1:155099593-155099971	A549	lung:	n/a	n/a
18	FOXA2	chr1:155098341-155100360	HepG2	liver:	n/a	chr1:155099831-155099843
19	CTBP2	chr1:155098170-155100670	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr1:155098279-155100608	HepG2	liver:	n/a	n/a
21	POLR2A	chr1:155098250-155100116	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:155098769-155100224	H1-neurons	neurons:	n/a	n/a
23	TCF12	chr1:155099670-155100475	ECC-1	luminal epithelium:	n/a	chr1:155099951-155099958
24	E2F6	chr1:155099313-155100162	K562	blood:	n/a	n/a
25	MYC	chr1:155098217-155100775	Hela-S3	cervix:	n/a	chr1:155098727-155098736 chr1:155100204-155100214 chr1:155098442-155098451 chr1:155098728-155098735 chr1:155098441-155098451 chr1:155098442-155098451 chr1:155098726-155098736 chr1:155098441-155098452 chr1:155098725-155098740 chr1:155098442-155098451 chr1:155098441-155098452 chr1:155098726-155098737 chr1:155098440-155098455
26	JUND	chr1:155099554-155100097	A549	lung:	n/a	n/a
27	POLR2A	chr1:155098341-155102845	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr1:155099957-155100218	Hela-S3	cervix:	n/a	n/a
29	SIN3A	chr1:155098657-155100550	H1-hESC	embryonic stem cell:	n/a	chr1:155098787-155098800 chr1:155099127-155099136 chr1:155098905-155098918 chr1:155098767-155098776 chr1:155099296-155099305
30	TCF7L2	chr1:155098055-155100116	Hela-S3	cervix:	n/a	chr1:155099798-155099812
31	HNF4A	chr1:155099604-155100534	HepG2	liver:	n/a	chr1:155099867-155099882
32	E2F1	chr1:155098349-155100531	Hela-S3	cervix:	n/a	chr1:155098485-155098492
33	POLR2A	chr1:155099843-155100014	A549	lung:	n/a	n/a
34	EP300	chr1:155099591-155100527	T-47D	breast:	n/a	chr1:155099787-155099794
35	CEBPB	chr1:155099249-155100018	HepG2	liver:	n/a	n/a
36	TEAD4	chr1:155099360-155100048	K562	blood:	n/a	n/a
37	MAX	chr1:155099003-155100079	A549	lung:	n/a	n/a
38	MXI1	chr1:155098113-155100079	Hela-S3	cervix:	n/a	chr1:155098441-155098450 chr1:155098441-155098450
39	ELF1	chr1:155099634-155099989	HepG2	liver:	n/a	n/a
40	JUND	chr1:155098880-155100063	A549	lung:	n/a	chr1:155098986-155098994 chr1:155099140-155099149
41	ELK1	chr1:155099719-155100047	Hela-S3	cervix:	n/a	n/a
42	EP300	chr1:155098817-155100265	A549	lung:	n/a	chr1:155099345-155099361 chr1:155099787-155099794
43	FOXA1	chr1:155098314-155100192	HepG2	liver:	n/a	chr1:155099831-155099843
44	TAF1	chr1:155099608-155099994	PFSK-1	brain:	n/a	n/a
45	MAX	chr1:155099477-155100593	ECC-1	luminal epithelium:	n/a	chr1:155100204-155100214
46	ATF3	chr1:155099101-155100051	A549	lung:	n/a	n/a
47	SP1	chr1:155098841-155100538	A549	lung:	n/a	chr1:155100226-155100235 chr1:155100225-155100237 chr1:155100226-155100236 chr1:155099347-155099356 chr1:155100225-155100237 chr1:155099231-155099243 chr1:155100231-155100245 chr1:155099346-155099356 chr1:155100226-155100235 chr1:155099232-155099241 chr1:155099345-155099357 chr1:155099881-155099895 chr1:155100205-155100219 chr1:155099231-155099243 chr1:155099854-155099863 chr1:155099888-155099902 chr1:155100227-155100236 chr1:155100246-155100260
48	GATA3	chr1:155098249-155100674	MCF-7	breast:	n/a	chr1:155099622-155099632
49	EP300	chr1:155098395-155100510	HepG2	liver:	n/a	chr1:155099345-155099361 chr1:155099787-155099794
50	POLR2A	chr1:155096985-155102845	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:155099956-155100006	NB4	blood:	n/a
2	chr1:155099956-155100006	HRPEpiC	eye:	n/a
3	chr1:155099956-155100006	Jurkat	blood:	n/a
4	chr1:155099956-155100006	HCT-116	colon:	n/a
5	chr1:155099956-155100006	HRE	kidney:	n/a
6	chr1:155099956-155100006	Hela-S3	cervix:	n/a
7	chr1:155099956-155100006	AG09319	gingival:	n/a
8	chr1:155099956-155100006	PANC-1	pancreas:	n/a
9	chr1:155099956-155100006	GM12892	blood:	n/a
10	chr1:155099956-155100006	HIPEpiC	eye:	n/a
11	chr1:155099956-155100006	MCF10A-Er-Src	breast:	n/a
12	chr1:155099956-155100006	ECC-1	luminal epithelium:	n/a
13	chr1:155099956-155100006	H1-hESC	embryonic stem cell:	embryo
14	chr1:155099956-155100006	NH-A	brain:	n/a
15	chr1:155099956-155100006	HepG2	liver:	n/a
16	chr1:155099956-155100006	ProgFib	skin:	n/a
17	chr1:155099956-155100006	HMEC	breast:	n/a
18	chr1:155099956-155100006	BE2_C	brain:	n/a
19	chr1:155099956-155100006	PFSK-1	brain:	n/a
20	chr1:155099956-155100006	U87	brain:	n/a
21	chr1:155099956-155100006	HAEpiC	amniotic membrane:	n/a
22	chr1:155099956-155100006	HEK293	kidney:	embryo
23	chr1:155099956-155100006	HPAEpiC	pulmonary alveolar:	n/a
24	chr1:155099956-155100006	BJ	skin:	n/a
25	chr1:155099956-155100006	IMR90	lung:	fetal
26	chr1:155099956-155100006	AoSMC	blood vessel:	n/a
27	chr1:155099956-155100006	AG04449	skin:	fetal
28	chr1:155099956-155100006	HRCEpiC	kidney:	n/a
29	chr1:155099956-155100006	ovcar-3	ovarian:	n/a
30	chr1:155099956-155100006	HCF	heart:	n/a
31	chr1:155099956-155100006	GM06990	blood:	n/a
32	chr1:155099956-155100006	HCM	heart:	n/a
33	chr1:155099956-155100006	NHBE	bronchial:	n/a
34	chr1:155099956-155100006	SK-N-SH_RA	brain:	n/a
35	chr1:155099956-155100006	MCF-7	breast:	n/a
36	chr1:155099956-155100006	NHDF-neo	bronchial:	n/a
37	chr1:155099956-155100006	GM19239	blood:	n/a
38	chr1:155099956-155100006	HEEpiC	esophagus:	n/a
39	chr1:155099956-155100006	SK-N-SH	brain:	n/a
40	chr1:155099956-155100006	NT2-D1	testis:	n/a
41	chr1:155099956-155100006	AG09309	skin:	n/a
42	chr1:155099956-155100006	A549	lung:	n/a
43	chr1:155099956-155100006	SKMC	muscle:	n/a
44	chr1:155099956-155100006	HUVEC	blood vessel:	n/a
45	chr1:155099956-155100006	GM12891	blood:	n/a
46	chr1:155099956-155100006	HNPCEpiC	eye:	n/a
47	chr1:155099956-155100006	K562	blood:	n/a
48	chr1:155099956-155100006	AG04450	lung:	fetal
49	chr1:155099956-155100006	RPTEC	kidney:	n/a
50	chr1:155099956-155100006	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155099451..155102336-chr6:27776687..27779634,2	MCF-7	breast:
2	chr1:154986410..154988338-chr1:155099789..155102344,2	MCF-7	breast:
3	chr1:154973069..154975738-chr1:155098828..155103753,6	MCF-7	breast:
4	chr1:155094769..155105017-chr1:155135344..155151845,46	MCF-7	breast:
5	chr1:155049589..155073019-chr1:155085330..155115362,149	MCF-7	breast:
6	chr1:155095314..155110392-chr1:155134312..155151496,72	MCF-7	breast:
7	chr1:154971203..154978007-chr1:155093683..155103687,24	MCF-7	breast:
8	chr1:155099426..155102245-chr1:155118836..155121124,2	K562	blood:
9	chr1:154942779..154946822-chr1:155099948..155103477,6	MCF-7	breast:
10	chr1:155023137..155025267-chr1:155097110..155100006,3	MCF-7	breast:
11	chr1:155096309..155104200-chr1:155157595..155166389,23	MCF-7	breast:
12	chr1:154190385..154194245-chr1:155097625..155102022,4	MCF-7	breast:
13	chr1:155098824..155101489-chr1:155162030..155163615,2	K562	blood:
14	chr1:155099597..155102197-chr20:52823453..52826190,2	MCF-7	breast:
15	chr1:155098008..155101008-chr1:155194682..155198746,4	MCF-7	breast:
16	chr1:155033847..155038699-chr1:155096296..155100742,10	MCF-7	breast:
17	chr1:155099520..155102330-chr1:155176910..155178560,2	K562	blood:
18	chr1:154529464..154531504-chr1:155098937..155100767,2	MCF-7	breast:
19	chr1:154909403..154911372-chr1:155099659..155102635,3	MCF-7	breast:
20	chr1:155022054..155026411-chr1:155097710..155103379,8	MCF-7	breast:

Variant related genes	Relation type
EFNA1	TF binding region
EFNA1	CpG island
ENSG00000163462	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000273088	Chromatin interaction
ENSG00000160685	Chromatin interaction
ENSG00000271748	Chromatin interaction
ENSG00000160714	Chromatin interaction
ENSG00000243364	Chromatin interaction
ENSG00000160691	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000163463	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000163344	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000251246	Chromatin interaction
ENSG00000270361	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000223452	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143612	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10908457	0.98[EUR][1000 genomes]
rs11264324	1.00[EUR][1000 genomes]
rs11264325	1.00[EUR][1000 genomes]
rs11264326	1.00[EUR][1000 genomes]
rs12081692	1.00[EUR][1000 genomes]
rs12126992	0.88[EUR][1000 genomes]
rs13375955	1.00[EUR][1000 genomes]
rs1462854	0.88[EUR][1000 genomes]
rs28670060	0.88[EUR][1000 genomes]
rs57157364	0.90[EUR][1000 genomes]
rs58925616	0.94[EUR][1000 genomes]
rs66474937	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs67333363	0.90[EUR][1000 genomes]
rs72702273	0.90[EUR][1000 genomes]
rs72702285	1.00[EUR][1000 genomes]
rs72702288	1.00[EUR][1000 genomes]
rs72702293	1.00[EUR][1000 genomes]
rs7517158	1.00[EUR][1000 genomes]
rs7517162	1.00[EUR][1000 genomes]
rs7548383	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv998756	chr1:155080090-155136545	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
6	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
7	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
8	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
9	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 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	chr1:155097000-155100000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:155097600-155100200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:155098400-155100200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:155098400-155100200	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr1:155098400-155100600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:155098400-155101200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:155098400-155101200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:155098400-155101600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr1:155098400-155101800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
10	chr1:155098400-155103200	Active TSS	Liver	Liver
11	chr1:155098600-155100000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:155098600-155100000	Flanking Active TSS	Colonic Mucosa	Colon
13	chr1:155098600-155100200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
14	chr1:155098600-155101200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
15	chr1:155098600-155101600	Active TSS	Brain Angular Gyrus	brain
16	chr1:155098600-155101600	Active TSS	Brain Anterior Caudate	brain
17	chr1:155098600-155101600	Active TSS	Brain Substantia Nigra	brain
18	chr1:155098800-155100000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
19	chr1:155098800-155100200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:155098800-155100200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:155098800-155100200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr1:155098800-155100200	Flanking Bivalent TSS/Enh	NH-A	brain
23	chr1:155098800-155100800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr1:155098800-155101400	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr1:155098800-155101400	Active TSS	Right Atrium	heart
26	chr1:155098800-155102000	Active TSS	Psoas Muscle	Psoas
27	chr1:155098800-155103000	Active TSS	Gastric	stomach
28	chr1:155098800-155103400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:155099000-155100000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr1:155099000-155100000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr1:155099000-155100000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:155099000-155100000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
33	chr1:155099000-155100200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:155099000-155100200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:155099000-155100200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr1:155099000-155100200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:155099000-155100200	Flanking Active TSS	HMEC	breast
38	chr1:155099000-155100400	Bivalent Enhancer	Spleen	Spleen
39	chr1:155099000-155100800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr1:155099000-155101000	Bivalent/Poised TSS	Fetal Kidney	kidney
41	chr1:155099000-155101800	Active TSS	Brain Cingulate Gyrus	brain
42	chr1:155099000-155102000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
43	chr1:155099200-155100000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:155099200-155100000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr1:155099200-155100000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr1:155099200-155100000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:155099200-155100000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr1:155099200-155100000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr1:155099200-155100200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
50	chr1:155099200-155100200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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