Variant report

Variant	rs551405983
Chromosome Location	chr19:55601186-55601187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:55591269..55595027-chr19:55600800..55604307,4	MCF-7	breast:
2	chr19:55590464..55596493-chr19:55598673..55602443,7	MCF-7	breast:
3	chr19:55598098..55602192-chr19:55668353..55672028,4	K562	blood:
4	chr19:55600794..55602436-chr19:55621159..55622928,2	K562	blood:
5	chr19:55599701..55601283-chr19:55870959..55872935,2	K562	blood:

Variant related genes	Relation type
ENSG00000131037	Chromatin interaction
ENSG00000267577	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000129991	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3319164	chr19:54983548-55605784	Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv3319165	chr19:54983548-55605784	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	esv3395724	chr19:54983577-55605784	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	esv3341592	chr19:54983611-55605750	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55592600-55602400	Weak transcription	Hela-S3	cervix
2	chr19:55593800-55620400	Weak transcription	HMEC	breast
3	chr19:55594800-55606000	Weak transcription	HepG2	liver
4	chr19:55598000-55602000	Weak transcription	Dnd41	blood
5	chr19:55598800-55601400	Enhancers	Fetal Heart	heart
6	chr19:55599000-55603000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:55599200-55602000	Weak transcription	Brain Angular Gyrus	brain
8	chr19:55599200-55602400	Weak transcription	NHEK	skin
9	chr19:55599200-55626600	Weak transcription	Fetal Kidney	kidney
10	chr19:55599200-55627200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr19:55599400-55601200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr19:55599400-55601200	Weak transcription	Brain Substantia Nigra	brain
13	chr19:55599400-55601800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:55599400-55602000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:55599400-55602000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr19:55599400-55604800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr19:55599400-55614800	Weak transcription	GM12878-XiMat	blood
18	chr19:55599600-55601600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:55599600-55602000	Weak transcription	Gastric	stomach
20	chr19:55599800-55601200	Enhancers	Stomach Smooth Muscle	stomach
21	chr19:55599800-55601400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr19:55599800-55601800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:55599800-55602000	Weak transcription	Brain Anterior Caudate	brain
24	chr19:55599800-55602000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr19:55599800-55602000	Weak transcription	Lung	lung
26	chr19:55599800-55602000	Weak transcription	Psoas Muscle	Psoas
27	chr19:55599800-55602000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:55599800-55602000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr19:55599800-55602200	Weak transcription	Small Intestine	intestine
30	chr19:55599800-55602400	Weak transcription	Pancreas	Pancrea
31	chr19:55599800-55626000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr19:55600000-55601200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:55600000-55601200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr19:55600000-55601200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:55600000-55601200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:55600000-55601400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:55600000-55601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:55600000-55601800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:55600000-55601800	Weak transcription	Colonic Mucosa	Colon
40	chr19:55600000-55601800	Weak transcription	Right Ventricle	heart
41	chr19:55600000-55602000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:55600000-55602000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:55600000-55602000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:55600000-55602000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr19:55600000-55602000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:55600000-55602000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr19:55600000-55602000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr19:55600000-55602000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:55600000-55602000	Weak transcription	Aorta	Aorta
50	chr19:55600000-55602200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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