Variant report

Variant	rs17884321
Chromosome Location	chr1:45273043-45273044
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	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	NR3C1	chr1:45272717-45273818	A549	lung:	n/a	chr1:45272997-45273006
5	GATA3	chr1:45272683-45273247	MCF-7	breast:	n/a	n/a
6	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
7	POLR2A	chr1:45270630-45276680	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:45270664-45274484	K562	blood:	n/a	n/a
9	PRDM1	chr1:45273019-45273450	Hela-S3	cervix:	n/a	n/a
10	ATF3	chr1:45272744-45273678	K562	blood:	n/a	n/a
11	RFX5	chr1:45272963-45273607	GM12878	blood:	n/a	chr1:45273101-45273110 chr1:45273097-45273112
12	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
13	ZNF384	chr1:45272894-45274203	K562	blood:	n/a	n/a
14	TBL1XR1	chr1:45272914-45274067	GM12878	blood:	n/a	n/a
15	ELK4	chr1:45272726-45273756	Hela-S3	cervix:	n/a	n/a
16	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
17	SMC3	chr1:45272964-45273745	GM12878	blood:	n/a	n/a
18	FOS	chr1:45272742-45273701	MCF10A-Er-Src	breast:	n/a	chr1:45272887-45272898 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
19	KAP1	chr1:45272809-45274856	HEK293	kidney:	n/a	chr1:45272887-45272896 chr1:45273219-45273228
20	REST	chr1:45272807-45273805	A549	lung:	n/a	chr1:45273028-45273041 chr1:45273544-45273554
21	FOS	chr1:45272664-45273762	MCF10A-Er-Src	breast:	n/a	chr1:45272887-45272898 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
22	EP300	chr1:45272751-45273784	A549	lung:	n/a	chr1:45272888-45272897 chr1:45273116-45273126 chr1:45272889-45272898
23	BRCA1	chr1:45272961-45273574	GM12878	blood:	n/a	n/a
24	NR3C1	chr1:45272878-45273731	A549	lung:	n/a	chr1:45272997-45273006
25	ATF3	chr1:45272890-45273792	K562	blood:	n/a	n/a
26	MAFK	chr1:45272643-45274552	K562	blood:	n/a	chr1:45273219-45273228 chr1:45273662-45273671
27	POLR2A	chr1:45272637-45274875	U87	brain:	n/a	n/a
28	POLR2A	chr1:45270697-45276683	GM12892	blood:	n/a	n/a
29	FOSL2	chr1:45272608-45273909	SK-N-SH	brain:	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
30	MYC	chr1:45272879-45273855	HUVEC	blood vessel:	n/a	chr1:45273101-45273110 chr1:45272888-45272897 chr1:45272902-45272912 chr1:45273819-45273828 chr1:45273217-45273226 chr1:45272889-45272898 chr1:45273195-45273211
31	SMC3	chr1:45272484-45273917	Hela-S3	cervix:	n/a	n/a
32	MAX	chr1:45272775-45273862	ECC-1	luminal epithelium:	n/a	chr1:45273101-45273110 chr1:45272888-45272897 chr1:45272902-45272912 chr1:45273819-45273828 chr1:45273217-45273226 chr1:45272889-45272898 chr1:45273195-45273211
33	EP300	chr1:45272778-45273977	SK-N-SH	brain:	n/a	chr1:45272888-45272897 chr1:45273116-45273126 chr1:45272889-45272898
34	FOXP2	chr1:45272886-45273714	PFSK-1	brain:	n/a	n/a
35	REST	chr1:45272950-45273524	A549	lung:	n/a	chr1:45273028-45273041
36	RAD21	chr1:45272969-45273231	H1-hESC	embryonic stem cell:	n/a	n/a
37	RELA	chr1:45272948-45274124	GM12892	blood:	n/a	chr1:45273922-45273931 chr1:45273922-45273931
38	IRF1	chr1:45272965-45273753	K562	blood:	n/a	n/a
39	MAX	chr1:45272891-45273976	GM12878	blood:	n/a	chr1:45273101-45273110 chr1:45272902-45272912 chr1:45273819-45273828 chr1:45273217-45273226 chr1:45273195-45273211
40	POLR2A	chr1:45272545-45274120	GM12891	blood:	n/a	n/a
41	EBF1	chr1:45272839-45274061	GM12878	blood:	n/a	n/a
42	CHD1	chr1:45273019-45274057	GM12878	blood:	n/a	n/a
43	SPI1	chr1:45272736-45273090	GM12878	blood:	n/a	n/a
44	TBL1XR1	chr1:45272738-45274174	K562	blood:	n/a	n/a
45	ZC3H11A	chr1:45272754-45274113	K562	blood:	n/a	n/a
46	ZNF143	chr1:45272866-45273805	Hela-S3	cervix:	n/a	chr1:45273131-45273150
47	SPI1	chr1:45272796-45273050	K562	blood:	n/a	n/a
48	ELK1	chr1:45272867-45273992	GM12878	blood:	n/a	n/a
49	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
50	SIN3AK20	chr1:45272906-45273758	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45271619..45273419-chr1:46014827..46017277,2	K562	blood:
2	chr1:45190324..45200952-chr1:45272085..45288310,59	MCF-7	breast:
3	chr1:45272160..45275293-chr1:45804757..45807253,3	K562	blood:
4	chr1:45184399..45189674-chr1:45270870..45279135,15	MCF-7	breast:
5	chr1:45248400..45253844-chr1:45268438..45273783,8	MCF-7	breast:
6	chr1:45268954..45275189-chr1:45475024..45480055,7	K562	blood:
7	chr1:45238319..45262026-chr1:45262351..45301953,358	K562	blood:
8	chr1:45271675..45274360-chr1:46048607..46050864,2	K562	blood:
9	chr1:45194189..45198394-chr1:45270401..45277394,13	MCF-7	breast:
10	chr1:45272569..45273134-chr2:8818787..8819623,2	Hela-S3	cervix:
11	chr1:45269727..45273120-chr1:45475175..45479286,6	K562	blood:
12	chr1:45272804..45273405-chr19:39897695..39898336,2	Hela-S3	cervix:
13	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
14	chr1:45272934..45277358-chr1:45964626..45967668,4	K562	blood:
15	chr1:45271433..45273539-chr1:45450490..45453055,2	K562	blood:
16	chr1:45186115..45188704-chr1:45270219..45273209,3	MCF-7	breast:
17	chr1:19534198..19536846-chr1:45271936..45273759,2	K562	blood:
18	chr1:45272218..45273207-chr12:109124644..109125507,2	Hela-S3	cervix:
19	chr1:45271934..45274901-chr1:46048607..46050252,3	K562	blood:
20	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

Variant related genes	Relation type
BTBD19	TF binding region
TCTEX1D4	TF binding region
ENSG00000264294	Chromatin interaction
ENSG00000070785	Chromatin interaction
ENSG00000142937	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000115738	Chromatin interaction
ENSG00000132763	Chromatin interaction
ENSG00000198520	Chromatin interaction
ENSG00000202031	Chromatin interaction
ENSG00000110880	Chromatin interaction
ENSG00000207421	Chromatin interaction
ENSG00000236624	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000117448	Chromatin interaction
ENSG00000200913	Chromatin interaction
ENSG00000225721	Chromatin interaction
ENSG00000142959	Chromatin interaction
ENSG00000127481	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000235092	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000132780	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000200169	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000234093	Chromatin interaction
ENSG00000132781	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12405329	1.00[ASN][1000 genomes]
rs12405483	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17880618	0.83[EUR][1000 genomes]
rs17885777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55898333	0.93[ASN][1000 genomes]
rs56287310	0.90[ASN][1000 genomes]
rs56413110	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58640576	0.97[ASN][1000 genomes]
rs59630460	0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60022108	0.93[ASN][1000 genomes]
rs74070589	0.90[ASN][1000 genomes]
rs74070593	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs74073404	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7524294	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv870876	chr1:45264545-45273531	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	56 gene(s)	inside rSNPs	diseases
14	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
15	esv3340963	chr1:45270390-45273238	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	31 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	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	chr1:45268400-45273200	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr1:45268600-45273200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:45268600-45273200	Genic enhancers	Fetal Muscle Leg	muscle
7	chr1:45269800-45273200	Weak transcription	Fetal Brain Male	brain
8	chr1:45270000-45278200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:45271200-45273800	Enhancers	Right Atrium	heart
10	chr1:45271400-45274000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:45271600-45273800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:45271800-45273600	Enhancers	Psoas Muscle	Psoas
13	chr1:45271800-45274800	Enhancers	Fetal Heart	heart
14	chr1:45271800-45277400	Weak transcription	Ovary	ovary
15	chr1:45272000-45273200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:45272000-45273200	Enhancers	Small Intestine	intestine
17	chr1:45272000-45274200	Enhancers	Left Ventricle	heart
18	chr1:45272000-45274400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:45272000-45274800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
20	chr1:45272000-45278000	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:45272200-45273200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:45272200-45273200	Genic enhancers	Fetal Thymus	thymus
23	chr1:45272200-45273400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:45272200-45273400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr1:45272200-45274000	Genic enhancers	Fetal Intestine Small	intestine
26	chr1:45272200-45275600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:45272400-45273200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:45272400-45273200	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:45272400-45273600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:45272400-45273600	Enhancers	Fetal Kidney	kidney
31	chr1:45272400-45273600	Genic enhancers	Fetal Stomach	stomach
32	chr1:45272400-45273600	Flanking Active TSS	HepG2	liver
33	chr1:45272400-45273800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:45272400-45274200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr1:45272400-45274200	Transcr. at gene 5' and 3'	NHEK	skin
36	chr1:45272400-45274400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:45272400-45274800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
38	chr1:45272400-45275000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:45272400-45275600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr1:45272400-45275800	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr1:45272400-45276000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:45272400-45276200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr1:45272400-45276400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:45272400-45276600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:45272400-45276600	Enhancers	Pancreas	Pancrea
46	chr1:45272400-45277600	Enhancers	Primary B cells from peripheral blood	blood
47	chr1:45272600-45273200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:45272600-45273200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr1:45272600-45273200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:45272600-45273200	Enhancers	Brain Angular Gyrus	brain

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