Variant report

Variant	rs34937940
Chromosome Location	chr19:56091674-56091675
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	POLR2A	chr19:56091262-56091852	PANC-1	pancreas:	n/a	n/a
2	YY1	chr19:56091515-56091891	A549	lung:	n/a	chr19:56091872-56091883
3	POLR2A	chr19:56091644-56091783	A549	lung:	n/a	n/a
4	POLR2A	chr19:56091640-56092656	GM19193	blood:	n/a	n/a
5	SP1	chr19:56091471-56093907	A549	lung:	n/a	chr19:56091862-56091876 chr19:56091908-56091917 chr19:56091907-56091919 chr19:56092416-56092428 chr19:56091904-56091918 chr19:56092245-56092259 chr19:56092416-56092428 chr19:56091879-56091893 chr19:56092257-56092271 chr19:56092220-56092234 chr19:56092379-56092390 chr19:56092251-56092265 chr19:56092417-56092426 chr19:56091994-56092008 chr19:56092419-56092433 chr19:56092145-56092154
6	MAZ	chr19:56091119-56093072	IMR90	lung:	n/a	chr19:56092224-56092234 chr19:56091562-56091572 chr19:56092600-56092610 chr19:56091909-56091919 chr19:56092361-56092371
7	MAZ	chr19:56091251-56092828	GM12878	blood:	n/a	chr19:56092224-56092234 chr19:56091562-56091572 chr19:56092600-56092610 chr19:56091909-56091919 chr19:56092361-56092371
8	MAZ	chr19:56091415-56093026	K562	blood:	n/a	chr19:56092224-56092234 chr19:56091562-56091572 chr19:56092600-56092610 chr19:56091909-56091919 chr19:56092361-56092371
9	ZNF143	chr19:56091349-56091705	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIN3A	chr19:56091344-56093085	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr19:56091329-56093788	A549	lung:	n/a	chr19:56093661-56093670 chr19:56092350-56092359
12	POLR2A	chr19:56091364-56092750	A549	lung:	n/a	n/a
13	POLR2A	chr19:56091407-56091870	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:56091633-56091741	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr19:56091640-56092882	HepG2	liver:	n/a	n/a
16	RCOR1	chr19:56091574-56091807	K562	blood:	n/a	n/a
17	POLR2A	chr19:56091377-56092668	ProgFib	skin:	n/a	n/a
18	POLR2A	chr19:56091674-56091763	Gliobla	brain:	n/a	n/a
19	MAX	chr19:56091376-56093828	A549	lung:	n/a	chr19:56092224-56092234 chr19:56091562-56091572 chr19:56092600-56092610 chr19:56091909-56091919 chr19:56092361-56092371
20	ELK1	chr19:56091666-56091731	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr19:56091552-56092623	MCF-7	breast:	n/a	n/a
22	POLR2A	chr19:56091500-56092623	GM18505	blood:	n/a	n/a
23	STAT5A	chr19:56091474-56091954	GM12878	blood:	n/a	chr19:56091585-56091597 chr19:56091905-56091917
24	ZBTB7A	chr19:56091367-56092783	ECC-1	luminal epithelium:	n/a	n/a
25	ELF1	chr19:56091440-56091844	GM12878	blood:	n/a	chr19:56091645-56091658
26	POLR2A	chr19:56091533-56091878	HepG2	liver:	n/a	n/a
27	CHD1	chr19:56091005-56092989	IMR90	lung:	n/a	n/a
28	MAZ	chr19:56091445-56091699	Hela-S3	cervix:	n/a	chr19:56091562-56091572
29	POLR2A	chr19:56091649-56091729	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:56091448-56091854	HUVEC	blood vessel:	n/a	n/a
31	ZBTB7A	chr19:56091648-56092119	HepG2	liver:	n/a	n/a
32	ZBTB7A	chr19:56091387-56091786	K562	blood:	n/a	n/a
33	MAZ	chr19:56091495-56093286	HepG2	liver:	n/a	chr19:56092224-56092234 chr19:56091562-56091572 chr19:56092600-56092610 chr19:56091909-56091919 chr19:56092361-56092371
34	GABPA	chr19:56091429-56091877	A549	lung:	n/a	n/a
35	SIN3AK20	chr19:56091371-56093235	MCF-7	breast:	n/a	n/a
36	MTA3	chr19:56091532-56091862	GM12878	blood:	n/a	n/a
37	ELF1	chr19:56091418-56091848	K562	blood:	n/a	chr19:56091645-56091658
38	POLR2A	chr19:56091641-56091932	A549	lung:	n/a	n/a
39	POLR2A	chr19:56091001-56092990	PFSK-1	brain:	n/a	n/a
40	SP1	chr19:56091354-56093918	A549	lung:	n/a	chr19:56091862-56091876 chr19:56091908-56091917 chr19:56091907-56091919 chr19:56092416-56092428 chr19:56091904-56091918 chr19:56092245-56092259 chr19:56092416-56092428 chr19:56091879-56091893 chr19:56092257-56092271 chr19:56092220-56092234 chr19:56092379-56092390 chr19:56092251-56092265 chr19:56092417-56092426 chr19:56091994-56092008 chr19:56092419-56092433 chr19:56092145-56092154
41	POLR2A	chr19:56091259-56093217	SK-N-MC	brain:	n/a	n/a
42	CHD2	chr19:56091654-56092675	GM12878	blood:	n/a	n/a
43	TCF12	chr19:56091437-56093943	A549	lung:	n/a	n/a
44	REST	chr19:56091163-56093146	H1-neurons	neurons:	n/a	chr19:56092008-56092022 chr19:56092206-56092219 chr19:56092435-56092448
45	MYC	chr19:56091533-56091770	K562	blood:	n/a	chr19:56091562-56091572
46	ZBTB7A	chr19:56091349-56092699	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr19:56091414-56091850	SK-N-SH	brain:	n/a	n/a
48	MXI1	chr19:56091163-56093260	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr19:56091521-56093024	GM12891	blood:	n/a	n/a
50	ZBTB7A	chr19:56091438-56092653	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56085801..56089181-chr19:56090146..56094195,5	MCF-7	breast:
2	chr19:56087628..56093963-chr19:56108517..56113906,9	MCF-7	breast:
3	chr19:56091409..56094452-chr19:56108819..56113428,6	K562	blood:
4	chr19:56089635..56093860-chr19:56114549..56117863,7	MCF-7	breast:
5	chr18:20513279..20513897-chr19:56091558..56092532,2	NB4	blood:
6	chr19:56087311..56094258-chr19:56108819..56113699,11	K562	blood:
7	chr19:55973159..55975306-chr19:56090568..56094014,3	K562	blood:

Variant related genes	Relation type
ENSG00000267730	TF binding region
ENSG00000261221	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000101773	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000267730	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000264817	Chromatin interaction
ENSG00000265943	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10403462	0.82[ASN][1000 genomes]
rs10451452	0.83[ASN][1000 genomes]
rs1079082	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1079083	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1079084	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1079085	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11084402	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11665826	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11668725	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11668729	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11669682	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11879347	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12610510	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12610512	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12610709	0.92[ASN][1000 genomes]
rs12610881	0.95[ASN][1000 genomes]
rs12972159	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12974617	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12978375	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12979354	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12979366	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12980543	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2014329	0.92[ASN][1000 genomes]
rs2864433	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2902748	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34174244	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34715654	0.85[ASN][1000 genomes]
rs35088354	0.85[ASN][1000 genomes]
rs35197282	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35522245	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35839536	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36047579	0.93[ASN][1000 genomes]
rs60220392	0.93[ASN][1000 genomes]
rs71368855	0.99[ASN][1000 genomes]
rs71368856	0.99[ASN][1000 genomes]
rs7246944	0.93[ASN][1000 genomes]
rs7251733	0.93[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	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
2	nsv912486	chr19:55977909-56145428	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv912495	chr19:56033088-56132661	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv912496	chr19:56040051-56145428	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv912497	chr19:56041848-56145428	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
8	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
9	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv912499	chr19:56071293-56132487	Flanking Active TSS Genic enhancers Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	esv3388302	chr19:56088140-56092838	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv3423073	chr19:56088190-56091888	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr19:56090400-56092400	Active TSS	HSMM	muscle
2	chr19:56090400-56092800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:56090800-56091800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr19:56090800-56092400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr19:56090800-56092600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:56090800-56092600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:56090800-56092800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:56090800-56092800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:56091000-56091800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr19:56091000-56091800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:56091000-56091800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr19:56091000-56091800	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr19:56091000-56091800	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr19:56091000-56091800	Flanking Active TSS	Pancreas	Pancrea
15	chr19:56091000-56092400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr19:56091000-56092400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:56091000-56092400	Active TSS	Muscle Satellite Cultured Cells	--
18	chr19:56091000-56092400	Active TSS	Fetal Intestine Small	intestine
19	chr19:56091000-56092400	Active TSS	Left Ventricle	heart
20	chr19:56091000-56092400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr19:56091000-56092400	Active TSS	GM12878-XiMat	blood
22	chr19:56091000-56092400	Active TSS	HUVEC	blood vessel
23	chr19:56091000-56092400	Active TSS	NH-A	brain
24	chr19:56091000-56092400	Active TSS	NHDF-Ad	bronchial
25	chr19:56091000-56092400	Active TSS	NHLF	lung
26	chr19:56091000-56092600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr19:56091000-56092600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:56091000-56092600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:56091000-56092600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr19:56091000-56092600	Active TSS	Gastric	stomach
31	chr19:56091000-56092600	Active TSS	Psoas Muscle	Psoas
32	chr19:56091000-56092600	Active TSS	Right Atrium	heart
33	chr19:56091000-56092800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr19:56091000-56092800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr19:56091000-56092800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:56091000-56092800	Active TSS	Fetal Kidney	kidney
37	chr19:56091000-56092800	Active TSS	Rectal Smooth Muscle	rectum
38	chr19:56091000-56092800	Active TSS	HSMMtube	muscle
39	chr19:56091000-56093000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr19:56091000-56093200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr19:56091000-56093200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:56091200-56091800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr19:56091200-56091800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr19:56091200-56091800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr19:56091200-56091800	Flanking Active TSS	Liver	Liver
46	chr19:56091200-56091800	Flanking Active TSS	Colonic Mucosa	Colon
47	chr19:56091200-56092000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr19:56091200-56092000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr19:56091200-56092400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:56091200-56092400	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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