Variant report

Variant	rs34457402
Chromosome Location	chr12:56693907-56693908
allele	G/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	PAX5	chr12:56693629-56694273	GM12878	blood:	n/a	n/a
2	USF1	chr12:56692897-56694029	ECC-1	luminal epithelium:	n/a	chr12:56693202-56693213
3	BCL3	chr12:56693015-56694798	A549	lung:	n/a	chr12:56694132-56694141 chr12:56694045-56694058 chr12:56694051-56694060
4	YY1	chr12:56693727-56694334	GM12891	blood:	n/a	chr12:56694163-56694177 chr12:56694070-56694084 chr12:56694134-56694143 chr12:56694131-56694140
5	MAX	chr12:56693544-56694507	HepG2	liver:	n/a	chr12:56694164-56694174 chr12:56693775-56693785 chr12:56693552-56693562
6	NR2F2	chr12:56693066-56696557	K562	blood:	n/a	n/a
7	HEY1	chr12:56693220-56694683	HepG2	liver:	n/a	chr12:56694135-56694150
8	MAX	chr12:56693501-56694104	H1-hESC	embryonic stem cell:	n/a	chr12:56693775-56693785 chr12:56693552-56693562
9	POLR2A	chr12:56693501-56694916	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr12:56693252-56694494	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:56693063-56695060	U87	brain:	n/a	n/a
12	SIN3AK20	chr12:56693602-56693992	K562	blood:	n/a	n/a
13	BHLHE40	chr12:56693652-56694204	HepG2	liver:	n/a	n/a
14	EGR1	chr12:56693621-56693944	K562	blood:	n/a	chr12:56693855-56693869 chr12:56693724-56693737
15	MXI1	chr12:56692674-56695052	SK-N-SH	brain:	n/a	n/a
16	MYC	chr12:56693314-56694049	K562	blood:	n/a	chr12:56693775-56693785 chr12:56693552-56693562
17	MXI1	chr12:56692936-56694547	K562	blood:	n/a	n/a
18	PBX3	chr12:56693605-56694637	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr12:56693372-56694654	GM19193	blood:	n/a	n/a
20	CHD2	chr12:56693618-56694589	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr12:56693633-56694692	HUVEC	blood vessel:	n/a	n/a
22	IRF1	chr12:56693616-56695292	K562	blood:	n/a	chr12:56694243-56694257 chr12:56694704-56694715 chr12:56694703-56694715 chr12:56694161-56694175 chr12:56694703-56694715
23	POLR2A	chr12:56693524-56694771	GM12878	blood:	n/a	n/a
24	TAF1	chr12:56693589-56694203	Hela-S3	cervix:	n/a	n/a
25	USF1	chr12:56693622-56693928	K562	blood:	n/a	n/a
26	HA-E2F1	chr12:56693401-56694749	MCF-7	breast:	n/a	chr12:56694329-56694341 chr12:56694050-56694060 chr12:56694129-56694139 chr12:56694537-56694551 chr12:56693872-56693882 chr12:56694589-56694598 chr12:56694329-56694338
27	POLR2A	chr12:56693122-56695191	HL-60	blood:	n/a	n/a
28	NFIC	chr12:56693413-56694125	SK-N-SH	brain:	n/a	chr12:56693806-56693822
29	POLR2A	chr12:56693011-56695885	PANC-1	pancreas:	n/a	n/a
30	E2F1	chr12:56693628-56694383	Hela-S3	cervix:	n/a	chr12:56694329-56694341 chr12:56694050-56694060 chr12:56694129-56694139 chr12:56693872-56693882 chr12:56694329-56694338
31	POLR2A	chr12:56692878-56695289	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr12:56693632-56694390	K562	blood:	n/a	n/a
33	JUND	chr12:56693650-56695295	K562	blood:	n/a	chr12:56694328-56694337 chr12:56694243-56694252 chr12:56694590-56694599 chr12:56693732-56693741
34	TAF1	chr12:56693667-56694517	SK-N-SH	brain:	n/a	n/a
35	MXI1	chr12:56693504-56694779	HepG2	liver:	n/a	n/a
36	YY1	chr12:56693602-56695282	K562	blood:	n/a	chr12:56694163-56694177 chr12:56694070-56694084 chr12:56694134-56694143 chr12:56694131-56694140
37	MAX	chr12:56692940-56694899	HCT-116	colon:	n/a	chr12:56693203-56693212 chr12:56694164-56694174 chr12:56693775-56693785 chr12:56693552-56693562
38	ETS1	chr12:56693575-56694169	K562	blood:	n/a	chr12:56694129-56694140 chr12:56693731-56693742
39	PML	chr12:56693173-56695281	K562	blood:	n/a	n/a
40	NFIC	chr12:56693160-56694868	ECC-1	luminal epithelium:	n/a	chr12:56693806-56693822
41	MAX	chr12:56693237-56694013	SK-N-SH	brain:	n/a	chr12:56693775-56693785 chr12:56693552-56693562
42	POLR2A	chr12:56693279-56694193	HCT-116	colon:	n/a	n/a
43	TAF1	chr12:56692892-56694783	ECC-1	luminal epithelium:	n/a	n/a
44	RCOR1	chr12:56693734-56695353	K562	blood:	n/a	n/a
45	TCF12	chr12:56693341-56694872	A549	lung:	n/a	n/a
46	PML	chr12:56693703-56694316	GM12878	blood:	n/a	n/a
47	ETS1	chr12:56693361-56694028	K562	blood:	n/a	chr12:56693731-56693742
48	TAF1	chr12:56693550-56694677	K562	blood:	n/a	n/a
49	TCF3	chr12:56693631-56694040	GM12878	blood:	n/a	n/a
50	ELF1	chr12:56693639-56694375	K562	blood:	n/a	chr12:56694212-56694224 chr12:56694051-56694063 chr12:56694131-56694140

No.	Distal block	Cell Line	Cell type
1	chr12:56693766..56695727-chr12:56841370..56844312,2	K562	blood:
2	chr12:56659486..56662634-chr12:56692106..56696696,6	MCF-7	breast:
3	chr12:56692272..56694110-chr12:56755146..56757372,2	K562	blood:
4	chr12:56692256..56696973-chr12:56707335..56712231,9	K562	blood:
5	chr12:56690986..56698275-chr12:56706607..56711958,20	MCF-7	breast:
6	chr12:56658523..56662084-chr12:56692827..56695822,4	MCF-7	breast:
7	chr12:56652145..56655661-chr12:56692434..56696303,4	MCF-7	breast:
8	chr12:56692026..56695172-chr12:56724921..56728621,5	MCF-7	breast:
9	chr12:56690402..56700610-chr12:56705161..56712229,20	K562	blood:
10	chr12:56693116..56697525-chr12:56726716..56730598,5	K562	blood:
11	chr12:56650147..56652111-chr12:56693703..56696656,2	MCF-7	breast:
12	chr12:56510175..56511690-chr12:56692539..56694121,2	MCF-7	breast:
13	chr12:56692603..56696463-chr12:56860417..56864951,8	K562	blood:
14	chr12:56679574..56682384-chr12:56692383..56696875,5	K562	blood:
15	chr12:56693742..56694336-chr17:56736049..56736947,2	MCF-7	breast:
16	chr12:56613850..56618210-chr12:56691526..56695895,7	MCF-7	breast:
17	chr12:56693640..56697163-chr12:56700934..56704368,3	MCF-7	breast:
18	chr12:56693028..56695003-chr12:56870939..56872704,2	MCF-7	breast:
19	chr12:56614600..56619518-chr12:56692701..56695411,5	K562	blood:
20	chr12:56509293..56514359-chr12:56692717..56696999,9	K562	blood:
21	chr12:56650670..56653389-chr12:56691740..56696063,7	MCF-7	breast:
22	chr12:56615624..56617857-chr12:56693691..56696506,3	K562	blood:
23	chr12:56692746..56696004-chr12:56729098..56732987,4	K562	blood:
24	chr12:56549752..56553222-chr12:56691115..56694737,3	K562	blood:
25	chr12:56650605..56653440-chr12:56692741..56694795,4	K562	blood:
26	chr12:56650605..56653086-chr12:56692741..56694478,2	K562	blood:
27	chr12:56692603..56696463-chr12:56860417..56864951,9	K562	blood:
28	chr12:56616367..56619176-chr12:56691399..56694912,3	MCF-7	breast:
29	chr12:56692915..56694824-chr12:56751015..56754096,3	MCF-7	breast:
30	chr12:56497940..56500843-chr12:56693833..56696028,2	K562	blood:
31	chr12:56658873..56662296-chr12:56692937..56696387,6	K562	blood:

Variant related genes	Relation type
CS	TF binding region
ENSG00000257303	TF binding region
ENSG00000135473	Chromatin interaction
ENSG00000139645	Chromatin interaction
ENSG00000062485	Chromatin interaction
ENSG00000144785	Chromatin interaction
ENSG00000135469	Chromatin interaction
ENSG00000257740	Chromatin interaction
ENSG00000258345	Chromatin interaction
ENSG00000257809	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000110944	Chromatin interaction
ENSG00000181852	Chromatin interaction
ENSG00000111602	Chromatin interaction
ENSG00000135517	Chromatin interaction
ENSG00000176422	Chromatin interaction
ENSG00000135423	Chromatin interaction
ENSG00000139579	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000175336	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000170581	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1274298	1.00[ASN][1000 genomes]
rs12810816	1.00[ASN][1000 genomes]
rs1290898	1.00[ASN][1000 genomes]
rs1689513	1.00[ASN][1000 genomes]
rs17118313	1.00[ASN][1000 genomes]
rs35436573	1.00[ASN][1000 genomes]
rs4573718	1.00[ASN][1000 genomes]
rs61376834	1.00[ASN][1000 genomes]
rs703822	1.00[ASN][1000 genomes]
rs705707	1.00[ASN][1000 genomes]
rs73340323	1.00[ASN][1000 genomes]
rs773121	1.00[ASN][1000 genomes]
rs773122	1.00[ASN][1000 genomes]
rs773123	1.00[ASN][1000 genomes]
rs773643	1.00[ASN][1000 genomes]
rs773645	1.00[ASN][1000 genomes]
rs773649	1.00[ASN][1000 genomes]
rs773662	1.00[ASN][1000 genomes]
rs7958618	1.00[ASN][1000 genomes]
rs7977273	1.00[ASN][1000 genomes]
rs812826	1.00[ASN][1000 genomes]
rs812842	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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 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	chr12:56692400-56694000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr12:56692400-56694800	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr12:56692400-56694800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:56692600-56694400	Active TSS	NHLF	lung
5	chr12:56692600-56694600	Active TSS	Right Atrium	heart
6	chr12:56692600-56694800	Active TSS	Psoas Muscle	Psoas
7	chr12:56692800-56694000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:56692800-56694400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:56692800-56694400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:56692800-56694400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:56692800-56694400	Active TSS	Fetal Kidney	kidney
12	chr12:56692800-56694400	Active TSS	HMEC	breast
13	chr12:56692800-56694600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:56692800-56694600	Active TSS	Right Ventricle	heart
15	chr12:56692800-56694600	Active TSS	NHDF-Ad	bronchial
16	chr12:56692800-56694800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:56692800-56695000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr12:56693000-56694400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr12:56693000-56694400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:56693000-56694400	Active TSS	Fetal Muscle Trunk	muscle
21	chr12:56693000-56694400	Active TSS	GM12878-XiMat	blood
22	chr12:56693000-56694400	Active TSS	HSMM	muscle
23	chr12:56693000-56694600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:56693000-56694600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:56693000-56694600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:56693000-56694600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr12:56693000-56694600	Active TSS	Colonic Mucosa	Colon
28	chr12:56693000-56694600	Active TSS	Fetal Brain Female	brain
29	chr12:56693000-56694600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr12:56693000-56694600	Active TSS	Lung	lung
31	chr12:56693000-56694600	Active TSS	Pancreas	Pancrea
32	chr12:56693000-56694800	Active TSS	Left Ventricle	heart
33	chr12:56693000-56695000	Active TSS	Esophagus	oesophagus
34	chr12:56693200-56694400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:56693200-56694400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:56693200-56694400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:56693200-56694400	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr12:56693200-56694400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:56693200-56694400	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr12:56693200-56694400	Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr12:56693200-56694400	Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:56693200-56694400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:56693200-56694400	Active TSS	Brain Germinal Matrix	brain
44	chr12:56693200-56694400	Active TSS	Fetal Intestine Large	intestine
45	chr12:56693200-56694400	Active TSS	Fetal Intestine Small	intestine
46	chr12:56693200-56694400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr12:56693200-56694400	Active TSS	Stomach Mucosa	stomach
48	chr12:56693200-56694400	Active TSS	A549	lung
49	chr12:56693200-56694400	Active TSS	Hela-S3	cervix
50	chr12:56693200-56694400	Active TSS	HSMMtube	muscle

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