Variant report

Variant	rs34558847
Chromosome Location	chr19:19785127-19785128
allele	A/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	chr19:19784980-19785229	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19779640..19782271-chr19:19782688..19785412,3	MCF-7	breast:
2	chr19:19784664..19786349-chr19:19788589..19791062,2	K562	blood:

Variant related genes	Relation type
ZNF101	TF binding region
ENSG00000181896	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10402516	0.83[ASN][1000 genomes]
rs10405234	0.81[ASN][1000 genomes]
rs10423311	0.81[ASN][1000 genomes]
rs11667828	0.81[ASN][1000 genomes]
rs11670710	0.97[ASN][1000 genomes]
rs12974308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12976582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12976826	0.81[EUR][1000 genomes]
rs12980482	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12982049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12982500	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12983292	0.97[ASN][1000 genomes]
rs1433079	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16994684	0.83[EUR][1000 genomes]
rs16996174	0.83[EUR][1000 genomes]
rs16996227	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2288865	0.82[ASN][1000 genomes]
rs2288867	0.81[ASN][1000 genomes]
rs2304129	0.81[EUR][1000 genomes]
rs28635562	0.81[ASN][1000 genomes]
rs35035906	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35445661	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35449009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35792080	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35801717	0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3752152	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3794996	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4808209	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4808974	0.81[EUR][1000 genomes]
rs4808976	0.81[ASN][1000 genomes]
rs4808979	0.86[ASN][1000 genomes]
rs4808981	0.86[ASN][1000 genomes]
rs7247142	0.90[ASN][1000 genomes]
rs7249670	0.97[ASN][1000 genomes]
rs7251924	0.94[ASN][1000 genomes]
rs74181147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74181148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74181149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74181150	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74181151	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3330851	chr19:19755507-19852881	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19780000-19785600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr19:19780200-19786400	Weak transcription	Ovary	ovary
3	chr19:19780200-19788200	Weak transcription	Aorta	Aorta
4	chr19:19780200-19789800	Weak transcription	Fetal Brain Male	brain
5	chr19:19780200-19790000	Weak transcription	Fetal Heart	heart
6	chr19:19780600-19788800	Weak transcription	Fetal Kidney	kidney
7	chr19:19780600-19788800	Weak transcription	HSMMtube	muscle
8	chr19:19780600-19790000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:19780600-19795000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:19780800-19787800	Weak transcription	NHDF-Ad	bronchial
11	chr19:19780800-19788200	Weak transcription	HUVEC	blood vessel
12	chr19:19780800-19789800	Weak transcription	Psoas Muscle	Psoas
13	chr19:19780800-19790000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:19780800-19795000	ZNF genes & repeats	Fetal Thymus	thymus
15	chr19:19780800-19795000	ZNF genes & repeats	Thymus	Thymus
16	chr19:19781000-19785200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr19:19781000-19786000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr19:19781000-19786400	Weak transcription	Fetal Muscle Leg	muscle
19	chr19:19781000-19787000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:19781000-19787800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr19:19781000-19788000	Weak transcription	Brain Anterior Caudate	brain
22	chr19:19781000-19788200	Weak transcription	Brain Angular Gyrus	brain
23	chr19:19781000-19788200	Weak transcription	Brain Hippocampus Middle	brain
24	chr19:19781000-19788200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:19781000-19788400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr19:19781000-19788400	Weak transcription	Fetal Lung	lung
27	chr19:19781000-19788400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr19:19781000-19789600	Weak transcription	Fetal Brain Female	brain
29	chr19:19781000-19789800	Weak transcription	Brain Substantia Nigra	brain
30	chr19:19781000-19792600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:19781200-19785400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr19:19781200-19786000	Weak transcription	Small Intestine	intestine
33	chr19:19781200-19786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:19781200-19786200	Weak transcription	Adipose Nuclei	Adipose
35	chr19:19781200-19786200	Weak transcription	HSMM	muscle
36	chr19:19781200-19786200	Weak transcription	K562	blood
37	chr19:19781200-19786400	Weak transcription	NH-A	brain
38	chr19:19781200-19787800	Weak transcription	Hela-S3	cervix
39	chr19:19781200-19787800	Weak transcription	Osteobl	bone
40	chr19:19781200-19788000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:19781200-19788200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:19781200-19788200	Weak transcription	Stomach Mucosa	stomach
43	chr19:19781200-19789800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr19:19781200-19790000	Weak transcription	Colon Smooth Muscle	Colon
45	chr19:19781200-19795800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr19:19781400-19786800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr19:19781400-19788000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr19:19781400-19788000	Weak transcription	Left Ventricle	heart
49	chr19:19781400-19788200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:19781400-19788200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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