Variant report

Variant	rs73006705
Chromosome Location	chr19:19781917-19781918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19779650..19782100-chr19:19976513..19978467,2	MCF-7	breast:
2	chr19:19779787..19782276-chr19:19989567..19991864,2	K562	blood:
3	chr19:19779981..19782160-chr19:19842451..19845691,3	MCF-7	breast:
4	chr19:19780471..19782017-chr19:19786498..19789488,2	K562	blood:
5	chr19:19772164..19776257-chr19:19777737..19781997,10	MCF-7	breast:
6	chr19:19779750..19782132-chr19:19785209..19787186,2	K562	blood:

Variant related genes	Relation type
ENSG00000181896	Chromatin interaction
ENSG00000256771	Chromatin interaction
ENSG00000105708	Chromatin interaction
ENSG00000105726	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10401926	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10403579	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415278	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10421328	0.80[AMR][1000 genomes]
rs10423449	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11668721	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11671684	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34174818	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56236407	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7253821	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs867616	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs884480	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs919778	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv911310	chr19:19753882-19784891	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
5	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:116 , 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	chr19:19780800-19782000	Enhancers	Primary B cells from peripheral blood	blood
11	chr19:19780800-19787800	Weak transcription	NHDF-Ad	bronchial
12	chr19:19780800-19788200	Weak transcription	HUVEC	blood vessel
13	chr19:19780800-19789800	Weak transcription	Psoas Muscle	Psoas
14	chr19:19780800-19790000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr19:19780800-19795000	ZNF genes & repeats	Fetal Thymus	thymus
16	chr19:19780800-19795000	ZNF genes & repeats	Thymus	Thymus
17	chr19:19781000-19782000	ZNF genes & repeats	Fetal Stomach	stomach
18	chr19:19781000-19782000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr19:19781000-19783000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr19:19781000-19783000	Weak transcription	Fetal Intestine Small	intestine
21	chr19:19781000-19783000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr19:19781000-19785000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:19781000-19785000	Weak transcription	A549	lung
24	chr19:19781000-19785200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr19:19781000-19786000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr19:19781000-19786400	Weak transcription	Fetal Muscle Leg	muscle
27	chr19:19781000-19787000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:19781000-19787800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr19:19781000-19788000	Weak transcription	Brain Anterior Caudate	brain
30	chr19:19781000-19788200	Weak transcription	Brain Angular Gyrus	brain
31	chr19:19781000-19788200	Weak transcription	Brain Hippocampus Middle	brain
32	chr19:19781000-19788200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr19:19781000-19788400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:19781000-19788400	Weak transcription	Fetal Lung	lung
35	chr19:19781000-19788400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr19:19781000-19789600	Weak transcription	Fetal Brain Female	brain
37	chr19:19781000-19789800	Weak transcription	Brain Substantia Nigra	brain
38	chr19:19781000-19792600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:19781200-19782000	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:19781200-19782000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:19781200-19782000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:19781200-19782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr19:19781200-19782800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:19781200-19782800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
45	chr19:19781200-19783000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:19781200-19783000	Weak transcription	Fetal Intestine Large	intestine
47	chr19:19781200-19783200	Weak transcription	Spleen	Spleen
48	chr19:19781200-19783400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr19:19781200-19783600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:19781200-19783600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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