Variant report

Variant	rs73934550
Chromosome Location	chr19:53031146-53031147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:53029127..53032188-chr19:53072538..53075129,3	K562	blood:
2	chr19:53029450..53032188-chr19:53072538..53074123,2	K562	blood:
3	chr19:53029459..53032258-chr19:53036873..53039549,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167562	Chromatin interaction
ENSG00000198482	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10411461	1.00[EUR][1000 genomes]
rs11882836	1.00[EUR][1000 genomes]
rs2162932	1.00[EUR][1000 genomes]
rs2447422	1.00[EUR][1000 genomes]
rs2931759	1.00[EUR][1000 genomes]
rs2931760	1.00[EUR][1000 genomes]
rs55753173	1.00[EUR][1000 genomes]
rs57548816	1.00[EUR][1000 genomes]
rs58325433	1.00[EUR][1000 genomes]
rs59230195	1.00[EUR][1000 genomes]
rs60194947	1.00[EUR][1000 genomes]
rs60238878	1.00[EUR][1000 genomes]
rs60404252	1.00[EUR][1000 genomes]
rs60856351	1.00[EUR][1000 genomes]
rs73576268	1.00[EUR][1000 genomes]
rs73576294	1.00[EUR][1000 genomes]
rs73578242	1.00[EUR][1000 genomes]
rs73584860	1.00[EUR][1000 genomes]
rs73584871	1.00[EUR][1000 genomes]
rs73584874	1.00[EUR][1000 genomes]
rs73586713	1.00[EUR][1000 genomes]
rs73934555	1.00[EUR][1000 genomes]
rs8109739	1.00[EUR][1000 genomes]
rs8110537	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1063648	chr19:52938131-53041119	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3404701	chr19:52986895-53035152	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3440535	chr19:52993529-53035203	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1066717	chr19:52993620-53041995	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1064342	chr19:52996710-53041119	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv1055825	chr19:53001299-53037378	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1055859	chr19:53001299-53041119	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1060656	chr19:53001299-53041995	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53029400-53031200	Active TSS	Primary T cells from cord blood	blood
2	chr19:53029600-53031400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:53029600-53032000	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr19:53029600-53032000	Active TSS	HSMM	muscle
5	chr19:53029600-53032200	Active TSS	Colonic Mucosa	Colon
6	chr19:53030000-53031200	Active TSS	Primary hematopoietic stem cells	blood
7	chr19:53030000-53031200	Active TSS	Brain Germinal Matrix	brain
8	chr19:53030000-53031400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:53030000-53031400	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr19:53030000-53031400	Active TSS	Brain Hippocampus Middle	brain
11	chr19:53030000-53031400	Active TSS	Pancreas	Pancrea
12	chr19:53030000-53031400	Active TSS	Psoas Muscle	Psoas
13	chr19:53030000-53031400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr19:53030000-53031400	Active TSS	Rectal Smooth Muscle	rectum
15	chr19:53030000-53031400	Active TSS	Right Ventricle	heart
16	chr19:53030000-53031400	Active TSS	Stomach Smooth Muscle	stomach
17	chr19:53030000-53031400	Active TSS	Thymus	Thymus
18	chr19:53030000-53031600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr19:53030000-53031600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr19:53030000-53031600	Active TSS	Brain Anterior Caudate	brain
21	chr19:53030000-53031600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:53030000-53031600	Active TSS	Colon Smooth Muscle	Colon
23	chr19:53030000-53031600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr19:53030000-53031600	Active TSS	NHLF	lung
25	chr19:53030000-53031600	Active TSS	Osteobl	bone
26	chr19:53030000-53031800	Active TSS	H1 Cell Line	embryonic stem cell
27	chr19:53030000-53031800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:53030000-53031800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:53030000-53031800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:53030000-53031800	Active TSS	Fetal Kidney	kidney
31	chr19:53030000-53031800	Active TSS	Right Atrium	heart
32	chr19:53030000-53032000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:53030000-53032000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:53030000-53032000	Active TSS	Fetal Intestine Small	intestine
35	chr19:53030000-53032000	Active TSS	HMEC	breast
36	chr19:53030000-53032200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr19:53030000-53032400	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr19:53030000-53032400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:53030000-53032600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:53030200-53031200	Active TSS	Placenta Amnion	Placenta Amnion
41	chr19:53030200-53031400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:53030200-53031400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr19:53030200-53031400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:53030200-53031400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:53030200-53031400	Active TSS	Brain Cingulate Gyrus	brain
46	chr19:53030200-53031400	Active TSS	Fetal Muscle Leg	muscle
47	chr19:53030200-53031400	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr19:53030200-53031400	Active TSS	Stomach Mucosa	stomach
49	chr19:53030200-53031400	Active TSS	HSMMtube	muscle
50	chr19:53030200-53031600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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