Variant report

Variant	rs60933383
Chromosome Location	chr19:56091831-56091832
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	ZBTB7A	chr19:56091774-56092025	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:56091640-56092656	GM19193	blood:	n/a	n/a
5	POLR2A	chr19:56091707-56092814	MCF10A-Er-Src	breast:	n/a	n/a
6	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
7	MAZ	chr19:56091119-56093072	IMR90	lung:	n/a	chr19:56092224-56092234 chr19:56091562-56091572 chr19:56092600-56092610 chr19:56091909-56091919 chr19:56092361-56092371
8	MAZ	chr19:56091251-56092828	GM12878	blood:	n/a	chr19:56092224-56092234 chr19:56091562-56091572 chr19:56092600-56092610 chr19:56091909-56091919 chr19:56092361-56092371
9	MAZ	chr19:56091415-56093026	K562	blood:	n/a	chr19:56092224-56092234 chr19:56091562-56091572 chr19:56092600-56092610 chr19:56091909-56091919 chr19:56092361-56092371
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	CEBPD	chr19:56091685-56092539	HepG2	liver:	n/a	n/a
15	ZBTB7A	chr19:56091796-56092542	K562	blood:	n/a	n/a
16	POLR2A	chr19:56091640-56092882	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:56091377-56092668	ProgFib	skin:	n/a	n/a
18	MAX	chr19:56091376-56093828	A549	lung:	n/a	chr19:56092224-56092234 chr19:56091562-56091572 chr19:56092600-56092610 chr19:56091909-56091919 chr19:56092361-56092371
19	POLR2A	chr19:56091552-56092623	MCF-7	breast:	n/a	n/a
20	POLR2A	chr19:56091500-56092623	GM18505	blood:	n/a	n/a
21	STAT5A	chr19:56091474-56091954	GM12878	blood:	n/a	chr19:56091585-56091597 chr19:56091905-56091917
22	ZBTB7A	chr19:56091367-56092783	ECC-1	luminal epithelium:	n/a	n/a
23	ELF1	chr19:56091440-56091844	GM12878	blood:	n/a	chr19:56091645-56091658
24	POLR2A	chr19:56091533-56091878	HepG2	liver:	n/a	n/a
25	CHD1	chr19:56091005-56092989	IMR90	lung:	n/a	n/a
26	ZMIZ1	chr19:56091690-56091862	K562	blood:	n/a	n/a
27	POLR2A	chr19:56091448-56091854	HUVEC	blood vessel:	n/a	n/a
28	ZBTB7A	chr19:56091648-56092119	HepG2	liver:	n/a	n/a
29	NR3C1	chr19:56091675-56092654	A549	lung:	n/a	chr19:56092421-56092434
30	MAZ	chr19:56091495-56093286	HepG2	liver:	n/a	chr19:56092224-56092234 chr19:56091562-56091572 chr19:56092600-56092610 chr19:56091909-56091919 chr19:56092361-56092371
31	GABPA	chr19:56091429-56091877	A549	lung:	n/a	n/a
32	SIN3AK20	chr19:56091371-56093235	MCF-7	breast:	n/a	n/a
33	MTA3	chr19:56091532-56091862	GM12878	blood:	n/a	n/a
34	ELF1	chr19:56091418-56091848	K562	blood:	n/a	chr19:56091645-56091658
35	POLR2A	chr19:56091641-56091932	A549	lung:	n/a	n/a
36	POLR2A	chr19:56091001-56092990	PFSK-1	brain:	n/a	n/a
37	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
38	POLR2A	chr19:56091259-56093217	SK-N-MC	brain:	n/a	n/a
39	CHD2	chr19:56091654-56092675	GM12878	blood:	n/a	n/a
40	TCF12	chr19:56091437-56093943	A549	lung:	n/a	n/a
41	CHD2	chr19:56091709-56092573	HepG2	liver:	n/a	n/a
42	REST	chr19:56091163-56093146	H1-neurons	neurons:	n/a	chr19:56092008-56092022 chr19:56092206-56092219 chr19:56092435-56092448
43	ZBTB7A	chr19:56091349-56092699	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr19:56091414-56091850	SK-N-SH	brain:	n/a	n/a
45	MXI1	chr19:56091163-56093260	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr19:56091521-56093024	GM12891	blood:	n/a	n/a
47	ZBTB7A	chr19:56091438-56092653	K562	blood:	n/a	n/a
48	REST	chr19:56091220-56091846	A549	lung:	n/a	n/a
49	POLR2A	chr19:56091545-56092616	GM18951	blood:	n/a	n/a
50	POLR2A	chr19:56091650-56092601	GM12878	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
ENSG00000264817	Chromatin interaction
ENSG00000267730	Chromatin interaction
ENSG00000265943	Chromatin interaction
ENSG00000101773	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000261221	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56720543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56920136	0.94[AFR][1000 genomes]
rs57457524	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57811747	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59260828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61631229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73610895	1.00[AMR][1000 genomes]
rs73612827	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615220	1.00[AMR][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	chr19:56090800-56092400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr19:56090800-56092600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:56090800-56092600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:56090800-56092800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:56090800-56092800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:56091000-56092400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr19:56091000-56092400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:56091000-56092400	Active TSS	Muscle Satellite Cultured Cells	--
11	chr19:56091000-56092400	Active TSS	Fetal Intestine Small	intestine
12	chr19:56091000-56092400	Active TSS	Left Ventricle	heart
13	chr19:56091000-56092400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr19:56091000-56092400	Active TSS	GM12878-XiMat	blood
15	chr19:56091000-56092400	Active TSS	HUVEC	blood vessel
16	chr19:56091000-56092400	Active TSS	NH-A	brain
17	chr19:56091000-56092400	Active TSS	NHDF-Ad	bronchial
18	chr19:56091000-56092400	Active TSS	NHLF	lung
19	chr19:56091000-56092600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:56091000-56092600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:56091000-56092600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:56091000-56092600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr19:56091000-56092600	Active TSS	Gastric	stomach
24	chr19:56091000-56092600	Active TSS	Psoas Muscle	Psoas
25	chr19:56091000-56092600	Active TSS	Right Atrium	heart
26	chr19:56091000-56092800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr19:56091000-56092800	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr19:56091000-56092800	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr19:56091000-56092800	Active TSS	Fetal Kidney	kidney
30	chr19:56091000-56092800	Active TSS	Rectal Smooth Muscle	rectum
31	chr19:56091000-56092800	Active TSS	HSMMtube	muscle
32	chr19:56091000-56093000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr19:56091000-56093200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr19:56091000-56093200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:56091200-56092000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr19:56091200-56092000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr19:56091200-56092400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr19:56091200-56092400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr19:56091200-56092400	Active TSS	Fetal Muscle Trunk	muscle
40	chr19:56091200-56092400	Active TSS	Placenta	Placenta
41	chr19:56091200-56092400	Active TSS	Placenta Amnion	Placenta Amnion
42	chr19:56091200-56092600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:56091200-56092600	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr19:56091200-56092800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr19:56091200-56092800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:56091200-56092800	Active TSS	Esophagus	oesophagus
47	chr19:56091200-56092800	Active TSS	Lung	lung
48	chr19:56091200-56092800	Active TSS	Ovary	ovary
49	chr19:56091400-56092000	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr19:56091400-56092000	Bivalent/Poised TSS	HepG2	liver

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