Variant report

Variant	rs2864436
Chromosome Location	chr19:55986637-55986638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr19:55986021-55986839	ECC-1	luminal epithelium:	n/a	chr19:55986317-55986324 chr19:55986346-55986353
2	TEAD4	chr19:55986068-55986868	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr19:55986158-55986786	K562	blood:	n/a	n/a
4	MYC	chr19:55986284-55986823	MCF10A-Er-Src	breast:	n/a	n/a
5	NFIC	chr19:55986091-55986748	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr19:55985961-55986704	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr19:55986424-55986713	HepG2	liver:	n/a	n/a
8	TCF12	chr19:55986045-55986790	ECC-1	luminal epithelium:	n/a	chr19:55986317-55986324 chr19:55986346-55986353
9	TEAD4	chr19:55986114-55986721	ECC-1	luminal epithelium:	n/a	n/a
10	NFIC	chr19:55986023-55986778	ECC-1	luminal epithelium:	n/a	n/a
11	YY1	chr19:55986099-55986660	ECC-1	luminal epithelium:	n/a	chr19:55986281-55986289
12	MAX	chr19:55986141-55986904	ECC-1	luminal epithelium:	n/a	n/a
13	EP300	chr19:55986140-55986730	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55986046..55989016-chr19:56110567..56114260,3	K562	blood:
2	chr19:55977134..55979619-chr19:55985315..55987493,2	MCF-7	breast:
3	chr19:55986000..55989537-chr19:56108522..56112833,7	MCF-7	breast:
4	chr19:55986321..55989143-chr19:56184299..56186966,2	K562	blood:
5	chr19:55985195..55986832-chr19:56145731..56147674,2	MCF-7	breast:
6	chr19:55986503..55989848-chr19:56164025..56167760,5	K562	blood:
7	chr19:55986419..55989388-chr19:56109213..56112341,4	K562	blood:
8	chr19:55917779..55921316-chr19:55986159..55990812,4	K562	blood:
9	chr19:55572992..55574639-chr19:55986433..55989022,2	K562	blood:
10	chr19:55896238..55898809-chr19:55984514..55989160,4	K562	blood:
11	chr19:55726173..55729345-chr19:55985956..55989855,5	K562	blood:
12	chr19:55896238..55899118-chr19:55985361..55987379,2	K562	blood:
13	chr19:55791017..55793325-chr19:55986469..55989325,2	MCF-7	breast:
14	chr19:55971436..55976249-chr19:55985108..55990468,9	MCF-7	breast:
15	chr19:55985812..55991047-chr19:55992546..55997921,11	MCF-7	breast:
16	chr19:55895061..55896815-chr19:55986626..55989266,2	MCF-7	breast:
17	chr19:55971132..55976622-chr19:55984125..55989318,11	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF628	TF binding region
ENSG00000171425	Chromatin interaction
ENSG00000063241	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000213015	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000108107	Chromatin interaction
ENSG00000160439	Chromatin interaction
ENSG00000063244	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000063245	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000108106	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs62128256	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104059	1.00[CHB][hapmap]
rs8105272	1.00[JPT][hapmap]
rs889090	0.80[CEU][hapmap]
rs929794	0.80[CEU][hapmap];0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	228 gene(s)	inside rSNPs	diseases
2	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
4	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
5	nsv912478	chr19:55936376-56045522	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
6	nsv912480	chr19:55972950-56009881	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv912481	chr19:55972950-56019597	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv912482	chr19:55972950-56062949	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
9	nsv912483	chr19:55975486-56003777	Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv912484	chr19:55977909-56019597	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv458833	chr19:55977909-56033088	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv580343	chr19:55977909-56033088	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
13	nsv912485	chr19:55977909-56050844	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv912488	chr19:55980728-56003777	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55974000-55987400	Weak transcription	Right Atrium	heart
2	chr19:55979600-55987000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:55979600-55987000	Weak transcription	GM12878-XiMat	blood
4	chr19:55979600-55987200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr19:55979800-55987000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr19:55979800-55987000	Weak transcription	Liver	Liver
7	chr19:55979800-55987200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr19:55979800-55987400	Weak transcription	NHLF	lung
9	chr19:55982600-55987800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:55982800-55987200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr19:55983800-55987400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:55984000-55987200	Weak transcription	Spleen	Spleen
13	chr19:55984000-55987400	Enhancers	Fetal Muscle Leg	muscle
14	chr19:55984200-55987200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:55984200-55987200	Weak transcription	Colonic Mucosa	Colon
16	chr19:55984200-55987400	Enhancers	Fetal Muscle Trunk	muscle
17	chr19:55984400-55987000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:55984400-55987000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:55984400-55987600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:55984600-55987200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:55984600-55987200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:55984600-55987200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr19:55984800-55987200	Enhancers	K562	blood
24	chr19:55985000-55987400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:55985000-55987400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:55985000-55987400	Enhancers	Fetal Thymus	thymus
27	chr19:55985200-55987000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:55985200-55987200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:55985200-55987200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr19:55985200-55987400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr19:55985200-55987400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:55985200-55987400	Enhancers	Fetal Kidney	kidney
33	chr19:55985400-55987200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr19:55985400-55987200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:55985400-55987200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr19:55985400-55987200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:55985400-55987200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:55985400-55987200	Enhancers	HepG2	liver
39	chr19:55985600-55986800	Flanking Active TSS	HSMMtube	muscle
40	chr19:55985600-55987200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:55985600-55987400	Enhancers	NHEK	skin
42	chr19:55985600-55987600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:55985800-55987200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:55985800-55987200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:55985800-55987200	Enhancers	Osteobl	bone
46	chr19:55985800-55987400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr19:55985800-55987600	Enhancers	Esophagus	oesophagus
48	chr19:55985800-55987600	Enhancers	NHDF-Ad	bronchial
49	chr19:55986000-55987000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr19:55986000-55987200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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