Variant report

Variant	rs4565758
Chromosome Location	chr1:45274000-45274001
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	GABPA	chr1:45272783-45274081	K562	blood:	n/a	n/a
2	PBX3	chr1:45272689-45274626	SK-N-SH	brain:	n/a	chr1:45272750-45272759
3	FOXM1	chr1:45272772-45274146	GM12878	blood:	n/a	n/a
4	MAX	chr1:45272578-45275645	HepG2	liver:	n/a	chr1:45273101-45273110 chr1:45274140-45274149 chr1:45272888-45272897 chr1:45272902-45272912 chr1:45273819-45273828 chr1:45273217-45273226 chr1:45272889-45272898 chr1:45273195-45273211 chr1:45274136-45274145
5	POLR2A	chr1:45270630-45276680	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:45270664-45274484	K562	blood:	n/a	n/a
7	EGR1	chr1:45272830-45274191	K562	blood:	n/a	chr1:45273600-45273613 chr1:45273444-45273454 chr1:45273438-45273460 chr1:45273442-45273455 chr1:45273601-45273615 chr1:45273914-45273929 chr1:45273600-45273613 chr1:45273602-45273612 chr1:45273442-45273455 chr1:45273600-45273614 chr1:45272936-45272945 chr1:45273441-45273456 chr1:45273599-45273614 chr1:45273445-45273454 chr1:45273069-45273083
8	ZNF384	chr1:45272894-45274203	K562	blood:	n/a	n/a
9	TBL1XR1	chr1:45272914-45274067	GM12878	blood:	n/a	n/a
10	JUND	chr1:45272669-45274300	K562	blood:	n/a	chr1:45272889-45272897 chr1:45272997-45273005 chr1:45273216-45273227 chr1:45272888-45272898 chr1:45273214-45273225 chr1:45273218-45273226 chr1:45272996-45273007 chr1:45272888-45272897 chr1:45273219-45273226 chr1:45273217-45273227 chr1:45272889-45272896 chr1:45272996-45273006 chr1:45273218-45273226 chr1:45272996-45273006 chr1:45272887-45272899
11	KAP1	chr1:45272809-45274856	HEK293	kidney:	n/a	chr1:45272887-45272896 chr1:45273219-45273228
12	POLR2A	chr1:45273937-45274316	HepG2	liver:	n/a	n/a
13	MAFK	chr1:45272643-45274552	K562	blood:	n/a	chr1:45273219-45273228 chr1:45273662-45273671
14	POLR2A	chr1:45272637-45274875	U87	brain:	n/a	n/a
15	POLR2A	chr1:45270697-45276683	GM12892	blood:	n/a	n/a
16	RELA	chr1:45272948-45274124	GM12892	blood:	n/a	chr1:45273922-45273931 chr1:45273922-45273931
17	BRCA1	chr1:45273989-45274189	HepG2	liver:	n/a	n/a
18	POLR2A	chr1:45272545-45274120	GM12891	blood:	n/a	n/a
19	EBF1	chr1:45272839-45274061	GM12878	blood:	n/a	n/a
20	CHD1	chr1:45273019-45274057	GM12878	blood:	n/a	n/a
21	TBL1XR1	chr1:45272738-45274174	K562	blood:	n/a	n/a
22	ZC3H11A	chr1:45272754-45274113	K562	blood:	n/a	n/a
23	MAZ	chr1:45272658-45275606	K562	blood:	n/a	chr1:45273101-45273110 chr1:45274140-45274149 chr1:45272888-45272897 chr1:45272902-45272912 chr1:45273819-45273828 chr1:45273217-45273226 chr1:45272889-45272898 chr1:45273195-45273211 chr1:45274136-45274145
24	SIN3AK20	chr1:45273873-45274318	K562	blood:	n/a	n/a
25	RELA	chr1:45272790-45274350	GM12891	blood:	n/a	chr1:45273922-45273931 chr1:45273922-45273931
26	MBD4	chr1:45272776-45274182	HepG2	liver:	n/a	n/a
27	ZNF263	chr1:45272824-45274023	HEK293-T-REx	kidney:	n/a	chr1:45273126-45273135 chr1:45273127-45273148
28	MAX	chr1:45272768-45274182	HepG2	liver:	n/a	chr1:45273101-45273110 chr1:45274140-45274149 chr1:45272888-45272897 chr1:45272902-45272912 chr1:45273819-45273828 chr1:45273217-45273226 chr1:45272889-45272898 chr1:45273195-45273211 chr1:45274136-45274145
29	POLR2A	chr1:45272763-45275529	HepG2	liver:	n/a	n/a
30	POLR2A	chr1:45272701-45274875	U87	brain:	n/a	n/a
31	MBD4	chr1:45272891-45274039	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:45272295-45276658	GM12891	blood:	n/a	n/a
33	FOSL2	chr1:45272531-45274160	HepG2	liver:	n/a	chr1:45272889-45272897 chr1:45272997-45273005 chr1:45272888-45272898 chr1:45273214-45273225 chr1:45273218-45273226 chr1:45272996-45273007 chr1:45272888-45272897 chr1:45273219-45273226 chr1:45273217-45273227 chr1:45272889-45272896 chr1:45272996-45273006 chr1:45273218-45273226 chr1:45272996-45273006 chr1:45272887-45272899
34	EP300	chr1:45272808-45274050	HepG2	liver:	n/a	chr1:45272888-45272897 chr1:45273116-45273126 chr1:45272889-45272898
35	POLR2A	chr1:45272323-45275578	K562	blood:	n/a	n/a
36	RCOR1	chr1:45272653-45274497	K562	blood:	n/a	n/a
37	POLR2A	chr1:45272564-45274122	PANC-1	pancreas:	n/a	n/a
38	PBX3	chr1:45272743-45274493	SK-N-SH	brain:	n/a	chr1:45272750-45272759
39	KAP1	chr1:45272665-45274179	U2OS	brain:	n/a	chr1:45272887-45272896 chr1:45273219-45273228
40	POLR2A	chr1:45272330-45274224	K562	blood:	n/a	n/a
41	PAX5	chr1:45273808-45274052	GM12878	blood:	n/a	n/a
42	SP1	chr1:45272193-45274808	HCT-116	colon:	n/a	chr1:45273604-45273616 chr1:45273970-45273984 chr1:45273605-45273614
43	HEY1	chr1:45272708-45275606	HepG2	liver:	n/a	chr1:45274208-45274223 chr1:45274211-45274226
44	BCL3	chr1:45272781-45274173	A549	lung:	n/a	chr1:45273923-45273932 chr1:45273924-45273933 chr1:45272888-45272897 chr1:45273048-45273061 chr1:45273904-45273913 chr1:45272889-45272898
45	PML	chr1:45272252-45274235	GM12878	blood:	n/a	chr1:45272887-45272896 chr1:45273219-45273228
46	JUN	chr1:45272369-45276076	K562	blood:	n/a	chr1:45275369-45275380 chr1:45274847-45274856 chr1:45272889-45272897 chr1:45272997-45273005 chr1:45272888-45272898 chr1:45273214-45273225 chr1:45273218-45273226 chr1:45272996-45273007 chr1:45272888-45272897 chr1:45273219-45273226 chr1:45273217-45273227 chr1:45272889-45272896 chr1:45272996-45273006 chr1:45273218-45273226 chr1:45272996-45273006 chr1:45272887-45272899
47	HNF4A	chr1:45273801-45274210	HepG2	liver:	n/a	chr1:45274000-45274015 chr1:45274001-45274015 chr1:45274002-45274015 chr1:45274001-45274014 chr1:45274000-45274015 chr1:45274002-45274015 chr1:45274002-45274014 chr1:45274002-45274014 chr1:45274002-45274015 chr1:45274000-45274015 chr1:45274000-45274015 chr1:45273980-45273995 chr1:45274001-45274015
48	NFIC	chr1:45272786-45274190	HepG2	liver:	n/a	n/a
49	POLR2A	chr1:45270657-45276553	K562	blood:	n/a	n/a
50	ATF2	chr1:45272969-45274105	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
2	chr1:45272160..45275293-chr1:45804757..45807253,3	K562	blood:
3	chr1:45185720..45187658-chr1:45273782..45275923,3	MCF-7	breast:
4	chr1:45273529..45274080-chr11:64007889..64008593,2	Hela-S3	cervix:
5	chr1:45184399..45189674-chr1:45270870..45279135,15	MCF-7	breast:
6	chr1:45268954..45275189-chr1:45475024..45480055,7	K562	blood:
7	chr1:45273964..45275771-chr1:45451640..45453619,2	K562	blood:
8	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
9	chr1:45271675..45274360-chr1:46048607..46050864,2	K562	blood:
10	chr1:45194189..45198394-chr1:45270401..45277394,13	MCF-7	breast:
11	chr1:45273104..45274002-chr10:74114318..74114867,2	Hela-S3	cervix:
12	chr1:45273605..45276582-chr1:45986789..45988627,2	K562	blood:
13	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
14	chr1:45272934..45277358-chr1:45964626..45967668,4	K562	blood:
15	chr1:45239942..45244585-chr1:45273690..45277023,5	MCF-7	breast:
16	chr1:45271934..45274901-chr1:46048607..46050252,3	K562	blood:
17	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:
18	chr1:45273315..45275597-chr1:45475668..45479411,4	K562	blood:

Variant related genes	Relation type
BTBD19	TF binding region
TCTEX1D4	TF binding region
ENSG00000126107	Chromatin interaction
ENSG00000264294	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000236624	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000234093	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10159318	0.84[ASN][1000 genomes]
rs11211042	0.83[EUR][1000 genomes]
rs11211043	0.82[EUR][1000 genomes]
rs12057238	0.87[ASN][1000 genomes]
rs12057414	0.91[ASN][1000 genomes]
rs12402781	0.87[ASN][1000 genomes]
rs12404160	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12404244	0.91[EUR][1000 genomes]
rs12405110	0.83[EUR][1000 genomes]
rs12407290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407627	0.90[ASN][1000 genomes]
rs12408763	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16832249	0.80[EUR][1000 genomes]
rs16832251	0.84[EUR][1000 genomes]
rs17390328	0.84[ASN][1000 genomes]
rs17390356	0.82[ASN][1000 genomes]
rs17390398	0.84[ASN][1000 genomes]
rs17391430	0.90[ASN][1000 genomes]
rs17883304	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17885815	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2295996	0.84[EUR][1000 genomes]
rs3795712	0.86[ASN][1000 genomes]
rs3795715	0.88[ASN][1000 genomes]
rs3795718	0.93[EUR][1000 genomes]
rs3806398	0.90[ASN][1000 genomes]
rs3923304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073112	0.95[EUR][1000 genomes]
rs41269079	0.90[ASN][1000 genomes]
rs41269085	0.84[EUR][1000 genomes]
rs4520451	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55703843	0.85[ASN][1000 genomes]
rs55708712	0.84[ASN][1000 genomes]
rs55893665	0.84[ASN][1000 genomes]
rs58191426	0.84[ASN][1000 genomes]
rs58603818	0.82[ASN][1000 genomes]
rs59803789	0.91[EUR][1000 genomes]
rs59895800	0.88[ASN][1000 genomes]
rs60189524	0.88[EUR][1000 genomes]
rs60452778	0.83[ASN][1000 genomes]
rs61149327	0.84[ASN][1000 genomes]
rs6657078	0.81[EUR][1000 genomes]
rs6678737	0.90[EUR][1000 genomes]
rs72674017	0.88[ASN][1000 genomes]
rs72674023	0.90[ASN][1000 genomes]
rs72674049	0.80[EUR][1000 genomes]
rs72674051	0.83[EUR][1000 genomes]
rs72674064	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
3	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
4	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
5	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
6	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
7	nsv461406	chr1:45218542-45293518	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
8	nsv546145	chr1:45218542-45293518	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
9	nsv870815	chr1:45233638-45318752	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	127 gene(s)	inside rSNPs	diseases
10	nsv546146	chr1:45258141-45318752	Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	109 gene(s)	inside rSNPs	diseases
11	nsv871320	chr1:45259295-45274841	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
12	nsv870773	chr1:45259295-45287306	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
13	esv3354434	chr1:45269765-45274063	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45265600-45276600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:45266600-45276400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:45268200-45274200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:45270000-45278200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:45271400-45274000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:45271800-45274800	Enhancers	Fetal Heart	heart
7	chr1:45271800-45277400	Weak transcription	Ovary	ovary
8	chr1:45272000-45274200	Enhancers	Left Ventricle	heart
9	chr1:45272000-45274400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:45272000-45274800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
11	chr1:45272000-45278000	Enhancers	Primary hematopoietic stem cells	blood
12	chr1:45272200-45274000	Genic enhancers	Fetal Intestine Small	intestine
13	chr1:45272200-45275600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:45272400-45274200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr1:45272400-45274200	Transcr. at gene 5' and 3'	NHEK	skin
16	chr1:45272400-45274400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:45272400-45274800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
18	chr1:45272400-45275000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:45272400-45275600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:45272400-45275800	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr1:45272400-45276000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:45272400-45276200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr1:45272400-45276400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:45272400-45276600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:45272400-45276600	Enhancers	Pancreas	Pancrea
26	chr1:45272400-45277600	Enhancers	Primary B cells from peripheral blood	blood
27	chr1:45272600-45274200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr1:45272600-45274200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr1:45272600-45274200	Enhancers	Right Ventricle	heart
30	chr1:45272600-45274400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:45272600-45274400	Flanking Active TSS	A549	lung
32	chr1:45272600-45275400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr1:45272600-45276400	Enhancers	Aorta	Aorta
34	chr1:45272600-45276400	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr1:45272600-45276800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr1:45272600-45277000	Enhancers	Lung	lung
37	chr1:45272800-45274000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:45272800-45274200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:45272800-45274200	Enhancers	Fetal Intestine Large	intestine
40	chr1:45272800-45274200	Enhancers	Placenta	Placenta
41	chr1:45272800-45274400	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:45272800-45275000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:45272800-45275600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:45272800-45275600	Flanking Active TSS	Osteobl	bone
45	chr1:45272800-45276200	Enhancers	Spleen	Spleen
46	chr1:45272800-45276200	Flanking Active TSS	HSMM	muscle
47	chr1:45272800-45276400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr1:45272800-45276400	Enhancers	Dnd41	blood
49	chr1:45272800-45276600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:45272800-45277600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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