Variant report

Variant	rs529394267
Chromosome Location	chr19:56592046-56592047
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56587880..56589665-chr19:56591150..56593865,2	MCF-7	breast:
2	chr19:56591769..56592656-chrX:35929442..35930145,2	MCF-7	breast:
3	chr19:56591073..56592693-chr19:56682992..56683859,5	MCF-7	breast:
4	chr19:56581337..56584331-chr19:56590956..56592904,2	K562	blood:
5	chr19:56591684..56592579-chr19:56763878..56764497,2	K562	blood:
6	chr19:56165388..56167305-chr19:56590662..56593656,2	MCF-7	breast:
7	chr19:56591703..56592615-chr19:56682968..56683865,3	K562	blood:
8	chr19:56589626..56592403-chr19:56608296..56610728,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000063244	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1062406	chr19:56382492-56602374	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1058988	chr19:56382492-56609032	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
5	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
6	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
7	nsv833883	chr19:56512601-56640089	Strong transcription Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
10	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	esv3382094	chr19:56590140-56593038	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
12	esv3411256	chr19:56590590-56592938	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
13	esv2469180	chr19:56591055-56592479	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
14	esv7495	chr19:56591101-56592084	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
15	esv2288482	chr19:56591139-56592086	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
16	esv3318244	chr19:56591173-56592097	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
17	esv3443710	chr19:56591176-56592143	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
18	esv1800134	chr19:56591228-56592655	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
19	esv3318243	chr19:56591229-56592098	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
20	esv3522550	chr19:56591235-56592082	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
21	esv3522551	chr19:56591235-56592082	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
22	esv3318245	chr19:56591249-56592060	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
23	esv3539	chr19:56591267-56592072	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
24	esv3526443	chr19:56591450-56592073	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
25	esv3526444	chr19:56591450-56592073	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56578200-56596800	Weak transcription	Gastric	stomach
2	chr19:56590800-56593600	Enhancers	Spleen	Spleen
3	chr19:56591000-56592200	Enhancers	Liver	Liver
4	chr19:56592000-56592200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr19:56592000-56592200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:56592000-56592200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:56592000-56592200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:56592000-56592200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr19:56592000-56592200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr19:56592000-56592200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:56592000-56592200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr19:56592000-56592200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:56592000-56592200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:56592000-56592200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:56592000-56592200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:56592000-56592200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:56592000-56592200	Active TSS	Primary monocytes fromperipheralblood	blood
18	chr19:56592000-56592200	Enhancers	Primary T cells from cord blood	blood
19	chr19:56592000-56592200	Enhancers	Primary hematopoietic stem cells	blood
20	chr19:56592000-56592200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr19:56592000-56592200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:56592000-56592200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr19:56592000-56592200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:56592000-56592200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:56592000-56592200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr19:56592000-56592200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr19:56592000-56592200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr19:56592000-56592200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr19:56592000-56592200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:56592000-56592200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:56592000-56592200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:56592000-56592200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:56592000-56592200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:56592000-56592200	Enhancers	Brain Angular Gyrus	brain
35	chr19:56592000-56592200	Active TSS	Brain Anterior Caudate	brain
36	chr19:56592000-56592200	Enhancers	Brain Hippocampus Middle	brain
37	chr19:56592000-56592200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr19:56592000-56592200	Enhancers	Brain Substantia Nigra	brain
39	chr19:56592000-56592200	Active TSS	Colonic Mucosa	Colon
40	chr19:56592000-56592200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
41	chr19:56592000-56592200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr19:56592000-56592200	Enhancers	Esophagus	oesophagus
43	chr19:56592000-56592200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr19:56592000-56592200	Active TSS	Fetal Muscle Leg	muscle
45	chr19:56592000-56592200	Bivalent Enhancer	Placenta	Placenta
46	chr19:56592000-56592200	Active TSS	Left Ventricle	heart
47	chr19:56592000-56592200	Active TSS	Pancreas	Pancrea
48	chr19:56592000-56592200	Enhancers	Psoas Muscle	Psoas
49	chr19:56592000-56592200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
50	chr19:56592000-56592200	Active TSS	Right Atrium	heart

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