Variant report

Variant	rs547669895
Chromosome Location	chr19:56136348-56136349
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	POLR2A	chr19:56135228-56136388	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:56135697-56136391	GM12878	blood:	n/a	n/a
3	SIN3AK20	chr19:56135607-56136551	MCF-7	breast:	n/a	n/a
4	SP1	chr19:56135283-56136424	HCT-116	colon:	n/a	chr19:56135716-56135725 chr19:56135610-56135619 chr19:56135716-56135730 chr19:56135972-56135981 chr19:56135780-56135792 chr19:56135508-56135522 chr19:56135973-56135982 chr19:56135940-56135949 chr19:56135938-56135950 chr19:56135752-56135763 chr19:56135938-56135950 chr19:56135939-56135953 chr19:56135968-56135982 chr19:56135609-56135623 chr19:56135716-56135726 chr19:56135715-56135727 chr19:56135780-56135792 chr19:56135508-56135518 chr19:56135509-56135518 chr19:56135608-56135620 chr19:56135508-56135518 chr19:56135972-56135982 chr19:56135801-56135812 chr19:56135939-56135948 chr19:56135971-56135983 chr19:56135715-56135727 chr19:56135781-56135791 chr19:56135717-56135726 chr19:56135508-56135517 chr19:56135972-56135982 chr19:56135939-56135949 chr19:56135608-56135620 chr19:56135609-56135619 chr19:56135971-56135983 chr19:56135507-56135519 chr19:56135770-56135780 chr19:56135507-56135519 chr19:56135508-56135517 chr19:56135781-56135790 chr19:56135939-56135949 chr19:56135939-56135948 chr19:56135716-56135726
5	POLR2A	chr19:56135530-56136376	MCF-7	breast:	n/a	n/a
6	POLR2A	chr19:56135721-56136376	GM12892	blood:	n/a	n/a
7	MAX	chr19:56135750-56136542	MCF-7	breast:	n/a	chr19:56135818-56135827
8	MAX	chr19:56135683-56136564	ECC-1	luminal epithelium:	n/a	chr19:56135818-56135827
9	POLR2A	chr19:56135687-56136488	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:56135686-56136348	U87	brain:	n/a	n/a
11	IRF1	chr19:56134932-56136348	K562	blood:	n/a	chr19:56135971-56135985 chr19:56135767-56135781 chr19:56135778-56135792 chr19:56135505-56135519 chr19:56135713-56135727 chr19:56135606-56135620 chr19:56135936-56135950
12	SIN3AK20	chr19:56135682-56136348	SK-N-SH	brain:	n/a	n/a
13	TAF1	chr19:56135514-56136409	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr19:56135551-56136416	IMR90	lung:	n/a	n/a
15	MAX	chr19:56135767-56136429	Hela-S3	cervix:	n/a	chr19:56135818-56135827
16	POLR2A	chr19:56135564-56136476	MCF-7	breast:	n/a	n/a
17	MXI1	chr19:56135735-56136865	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr19:56135665-56136410	HUVEC	blood vessel:	n/a	n/a
19	CREB1	chr19:56135442-56136495	HepG2	liver:	n/a	n/a
20	SIN3AK20	chr19:56135739-56136481	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr19:56135578-56136423	Hela-S3	cervix:	n/a	n/a
22	E2F6	chr19:56136267-56136420	K562	blood:	n/a	n/a
23	POLR2A	chr19:56135642-56136399	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr19:56135367-56136453	H1-hESC	embryonic stem cell:	n/a	n/a
25	HCFC1	chr19:56135300-56136480	Hela-S3	cervix:	n/a	n/a
26	TCF12	chr19:56135229-56136591	A549	lung:	n/a	chr19:56136527-56136536
27	PML	chr19:56135525-56136358	GM12878	blood:	n/a	n/a
28	TEAD4	chr19:56135659-56136404	K562	blood:	n/a	n/a
29	E2F6	chr19:56135901-56136616	H1-hESC	embryonic stem cell:	n/a	chr19:56135940-56135949
30	BCL3	chr19:56135707-56136348	A549	lung:	n/a	n/a
31	YY1	chr19:56135470-56136427	SK-N-SH	brain:	n/a	chr19:56135940-56135949 chr19:56135919-56135931 chr19:56135917-56135937
32	SIN3AK20	chr19:56135979-56136375	A549	lung:	n/a	n/a
33	CTCF	chr19:56136240-56136390	GM12873	blood:	n/a	n/a
34	JUND	chr19:56135756-56136354	H1-hESC	embryonic stem cell:	n/a	chr19:56135783-56135792
35	MAX	chr19:56135863-56136417	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr19:56135689-56136568	K562	blood:	n/a	chr19:56135818-56135827
37	MTA3	chr19:56135718-56136385	GM12878	blood:	n/a	n/a
38	MAX	chr19:56135836-56136349	NB4	blood:	n/a	n/a
39	SIN3AK20	chr19:56135755-56136391	K562	blood:	n/a	n/a
40	SIN3AK20	chr19:56136079-56136418	A549	lung:	n/a	n/a
41	POLR2A	chr19:56135725-56136465	SK-N-MC	brain:	n/a	n/a
42	MAX	chr19:56135704-56136435	K562	blood:	n/a	chr19:56135818-56135827
43	MAX	chr19:56136165-56136470	K562	blood:	n/a	n/a
44	SIN3A	chr19:56135727-56136464	H1-hESC	embryonic stem cell:	n/a	n/a
45	ELF1	chr19:56135708-56136400	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:56135668-56136373	GM12891	blood:	n/a	n/a
47	NRF1	chr19:56135745-56136377	SK-N-SH	brain:	n/a	chr19:56136003-56136014 chr19:56135940-56135949
48	POLR2A	chr19:56135313-56136477	K562	blood:	n/a	n/a
49	SP1	chr19:56135204-56136354	H1-hESC	embryonic stem cell:	n/a	chr19:56135716-56135725 chr19:56135610-56135619 chr19:56135716-56135730 chr19:56135972-56135981 chr19:56135780-56135792 chr19:56135508-56135522 chr19:56135973-56135982 chr19:56135940-56135949 chr19:56135938-56135950 chr19:56135752-56135763 chr19:56135938-56135950 chr19:56135939-56135953 chr19:56135968-56135982 chr19:56135609-56135623 chr19:56135716-56135726 chr19:56135715-56135727 chr19:56135780-56135792 chr19:56135508-56135518 chr19:56135509-56135518 chr19:56135608-56135620 chr19:56135508-56135518 chr19:56135972-56135982 chr19:56135801-56135812 chr19:56135939-56135948 chr19:56135971-56135983 chr19:56135715-56135727 chr19:56135781-56135791 chr19:56135717-56135726 chr19:56135508-56135517 chr19:56135972-56135982 chr19:56135939-56135949 chr19:56135608-56135620 chr19:56135609-56135619 chr19:56135971-56135983 chr19:56135507-56135519 chr19:56135770-56135780 chr19:56135507-56135519 chr19:56135508-56135517 chr19:56135781-56135790 chr19:56135939-56135949 chr19:56135939-56135948 chr19:56135716-56135726
50	IRF1	chr19:56135732-56136467	K562	blood:	n/a	chr19:56135971-56135985 chr19:56135767-56135781 chr19:56135778-56135792 chr19:56135936-56135950

No.	Distal block	Cell Line	Cell type
1	chr19:56134460..56137185-chr19:56162633..56166165,3	K562	blood:
2	chr19:55994966..55997371-chr19:56133954..56136992,3	K562	blood:
3	chr19:56134733..56137004-chr19:56165358..56168098,3	MCF-7	breast:
4	chr19:56134501..56137412-chr19:56145689..56149345,6	K562	blood:
5	chr19:55969994..55973672-chr19:56134456..56137440,3	MCF-7	breast:
6	chr19:55950973..55953730-chr19:56134853..56137596,2	K562	blood:
7	chr19:56134500..56138557-chr19:56151822..56155582,4	K562	blood:
8	chr19:56134221..56137618-chr19:56162633..56168532,10	K562	blood:
9	chr19:56110415..56112373-chr19:56134518..56138349,4	MCF-7	breast:
10	chr19:55986860..55989470-chr19:56134046..56136997,2	K562	blood:
11	chr19:56116188..56118514-chr19:56134480..56137487,3	MCF-7	breast:
12	chr19:56109378..56114662-chr19:56134412..56139001,15	K562	blood:
13	chr19:56135761..56137279-chr19:56166087..56167869,2	MCF-7	breast:
14	chr19:55918880..55921412-chr19:56134337..56137770,3	MCF-7	breast:
15	chr19:56131862..56136924-chr19:56144839..56148352,5	MCF-7	breast:
16	chr19:56132811..56137423-chr19:56151241..56156557,5	MCF-7	breast:
17	chr19:56133203..56138391-chr19:56150309..56156340,8	K562	blood:
18	chr19:56135134..56137131-chr19:56144636..56147133,4	MCF-7	breast:

Variant related genes	Relation type
ZNF784	TF binding region
ENSG00000269859	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000197483	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000171425	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000173581	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
6	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
7	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
8	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
9	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
10	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	nsv912502	chr19:56099884-56138575	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
13	esv3416031	chr19:56134790-56136988	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
14	esv3354949	chr19:56135340-56136538	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 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	chr19:56134800-56136600	Active TSS	Right Ventricle	heart
2	chr19:56134800-56136800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr19:56135000-56136400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:56135000-56136600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:56135000-56136600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:56135000-56136600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:56135000-56136600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr19:56135200-56136400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:56135200-56136400	Active TSS	Psoas Muscle	Psoas
10	chr19:56135200-56136400	Active TSS	Right Atrium	heart
11	chr19:56135200-56136400	Active TSS	Stomach Smooth Muscle	stomach
12	chr19:56135200-56136600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:56135200-56136600	Active TSS	H9 Cell Line	embryonic stem cell
14	chr19:56135200-56136600	Active TSS	Brain Cingulate Gyrus	brain
15	chr19:56135200-56136600	Active TSS	Fetal Brain Female	brain
16	chr19:56135200-56136800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr19:56135200-56137000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:56135200-56137000	Active TSS	Brain Germinal Matrix	brain
19	chr19:56135400-56136400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr19:56135400-56136400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr19:56135400-56136400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:56135400-56136400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr19:56135400-56136600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr19:56135400-56136600	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr19:56135400-56136600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:56135400-56136600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:56135400-56136600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:56135400-56136600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:56135400-56136600	Active TSS	Brain Hippocampus Middle	brain
30	chr19:56135400-56136600	Active TSS	Ovary	ovary
31	chr19:56135400-56136600	Active TSS	Rectal Smooth Muscle	rectum
32	chr19:56135400-56136600	Active TSS	A549	lung
33	chr19:56135400-56136600	Active TSS	HSMM	muscle
34	chr19:56135400-56136600	Active TSS	HSMMtube	muscle
35	chr19:56135400-56136600	Active TSS	NH-A	brain
36	chr19:56135400-56136800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr19:56135400-56136800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:56135400-56136800	Active TSS	Brain Angular Gyrus	brain
39	chr19:56135400-56136800	Active TSS	HMEC	breast
40	chr19:56135600-56136400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr19:56135600-56136400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:56135600-56136400	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr19:56135600-56136400	Active TSS	Small Intestine	intestine
44	chr19:56135600-56136600	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr19:56135600-56136600	Active TSS	Fetal Kidney	kidney
46	chr19:56135600-56136800	Enhancers	Fetal Heart	heart
47	chr19:56135600-56137000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:56135800-56136400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr19:56135800-56136400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:56135800-56136400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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