Variant report

Variant	rs73932298
Chromosome Location	chr19:55599011-55599012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:55596371..55599189-chr19:55766954..55768796,2	K562	blood:
2	chr19:55590464..55596493-chr19:55598673..55602443,7	MCF-7	breast:
3	chr19:55598098..55602192-chr19:55668353..55672028,4	K562	blood:
4	chr19:55591753..55593275-chr19:55598361..55600388,2	MCF-7	breast:
5	chr19:55597966..55599485-chr19:55626673..55628218,2	K562	blood:
6	chr19:55597985..55600071-chr19:55626718..55628397,2	K562	blood:
7	chr19:55596751..55599239-chr19:55601936..55604534,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129991	Chromatin interaction
ENSG00000167646	Chromatin interaction
ENSG00000131037	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000267577	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73932294	1.00[AMR][1000 genomes]
rs73932296	1.00[AMR][1000 genomes]
rs73932297	1.00[AMR][1000 genomes]
rs73932301	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:125 , 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	chr19:55597400-55599200	Active TSS	HSMMtube	muscle
5	chr19:55597400-55599800	Enhancers	Lung	lung
6	chr19:55597600-55599200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:55597600-55599200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:55597600-55599400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:55597600-55599400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:55597600-55599600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
11	chr19:55597600-55599800	Weak transcription	K562	blood
12	chr19:55597800-55599200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:55597800-55599400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr19:55597800-55599800	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr19:55598000-55599200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:55598000-55599200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr19:55598000-55599400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:55598000-55599400	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr19:55598000-55599800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
20	chr19:55598000-55599800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
21	chr19:55598000-55602000	Weak transcription	Dnd41	blood
22	chr19:55598200-55599200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:55598200-55599200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
24	chr19:55598200-55599200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
25	chr19:55598200-55599200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:55598200-55599200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:55598200-55599200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr19:55598200-55599200	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr19:55598200-55599200	Active TSS	Fetal Kidney	kidney
30	chr19:55598200-55599200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
31	chr19:55598200-55599200	Bivalent Enhancer	Small Intestine	intestine
32	chr19:55598200-55599400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:55598200-55599400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:55598200-55599400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr19:55598200-55599400	Strong transcription	A549	lung
36	chr19:55598200-55599400	Flanking Bivalent TSS/Enh	Osteobl	bone
37	chr19:55598200-55599600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr19:55598200-55599800	Flanking Active TSS	Esophagus	oesophagus
39	chr19:55598200-55600000	Enhancers	Liver	Liver
40	chr19:55598400-55599200	Flanking Active TSS	Ovary	ovary
41	chr19:55598400-55599200	Active TSS	NHDF-Ad	bronchial
42	chr19:55598400-55599400	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr19:55598400-55599400	Bivalent Enhancer	Fetal Thymus	thymus
44	chr19:55598400-55599600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:55598600-55599200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:55598600-55599200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr19:55598600-55599200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr19:55598600-55599200	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr19:55598600-55599200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr19:55598600-55599200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum

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