Variant report

Variant	rs183159711
Chromosome Location	chr19:55607960-55607961
allele	C/G
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	chr19:55607846-55608080	K562	blood:	n/a	n/a
2	MAX	chr19:55607560-55607972	H1-hESC	embryonic stem cell:	n/a	chr19:55607896-55607905 chr19:55607897-55607904
3	EBF1	chr19:55607799-55607980	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55606533..55609893-chr19:55627288..55629671,4	MCF-7	breast:
2	chr19:55602846..55604950-chr19:55605722..55608309,2	MCF-7	breast:
3	chr19:55606186..55608004-chr19:55668541..55670350,2	K562	blood:
4	chr19:55602817..55605063-chr19:55607847..55611978,5	K562	blood:
5	chr19:55593783..55596973-chr19:55605739..55609072,3	MCF-7	breast:
6	chr19:55591561..55594163-chr19:55604044..55608526,4	K562	blood:

Variant related genes	Relation type
PPP1R12C	TF binding region
ENSG00000267577	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000129991	Chromatin interaction
ENSG00000131037	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534462	chr19:55028722-55683018	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv1063666	chr19:55030439-55622780	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv817874	chr19:55595687-55614923	Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv912449	chr19:55595687-55630425	Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv912450	chr19:55595687-55633043	Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv912452	chr19:55595687-55644325	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv912451	chr19:55595687-55680746	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv978854	chr19:55600405-55611152	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	esv19087	chr19:55607778-55609493	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55593800-55620400	Weak transcription	HMEC	breast
2	chr19:55599200-55626600	Weak transcription	Fetal Kidney	kidney
3	chr19:55599200-55627200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr19:55599400-55614800	Weak transcription	GM12878-XiMat	blood
5	chr19:55599800-55626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:55600000-55610600	Weak transcription	NHDF-Ad	bronchial
7	chr19:55600000-55612800	Weak transcription	HSMMtube	muscle
8	chr19:55600000-55613400	Weak transcription	Fetal Lung	lung
9	chr19:55600000-55613800	Weak transcription	NH-A	brain
10	chr19:55600000-55614600	Weak transcription	HSMM	muscle
11	chr19:55600000-55626600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:55600000-55627000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr19:55600200-55609800	Weak transcription	Stomach Mucosa	stomach
14	chr19:55600200-55610800	Strong transcription	NHLF	lung
15	chr19:55600200-55612600	Weak transcription	K562	blood
16	chr19:55600200-55614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:55600400-55608200	Strong transcription	Fetal Stomach	stomach
18	chr19:55600600-55614600	Weak transcription	HUVEC	blood vessel
19	chr19:55600800-55608000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr19:55600800-55608000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr19:55600800-55608000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr19:55600800-55608200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:55601000-55608200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:55601000-55608200	Strong transcription	Adipose Nuclei	Adipose
25	chr19:55601200-55608000	Strong transcription	Colon Smooth Muscle	Colon
26	chr19:55601200-55608000	Strong transcription	Thymus	Thymus
27	chr19:55601400-55611000	Weak transcription	Right Atrium	heart
28	chr19:55601400-55626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:55601800-55608200	Strong transcription	Fetal Brain Female	brain
30	chr19:55601800-55609800	Strong transcription	Colonic Mucosa	Colon
31	chr19:55602000-55608000	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr19:55602000-55608200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:55602000-55613800	Strong transcription	Gastric	stomach
34	chr19:55602000-55615400	Strong transcription	Lung	lung
35	chr19:55602000-55618400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:55602200-55608000	Strong transcription	Fetal Intestine Large	intestine
37	chr19:55602400-55608000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr19:55602800-55614200	Weak transcription	Psoas Muscle	Psoas
39	chr19:55602800-55626400	Weak transcription	Hela-S3	cervix
40	chr19:55603400-55608000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:55603600-55609400	Weak transcription	NHEK	skin
42	chr19:55603800-55612600	Weak transcription	Small Intestine	intestine
43	chr19:55604000-55608400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:55605600-55608000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:55605600-55608000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr19:55605600-55608000	Strong transcription	Liver	Liver
47	chr19:55605600-55608000	Strong transcription	Brain Anterior Caudate	brain
48	chr19:55605600-55608000	Strong transcription	Ovary	ovary
49	chr19:55605600-55608200	Strong transcription	Esophagus	oesophagus
50	chr19:55605600-55610000	Strong transcription	Brain Hippocampus Middle	brain

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