Variant report

Variant	rs60323875
Chromosome Location	chr19:52854564-52854565
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10401299	1.00[AMR][1000 genomes]
rs10406085	1.00[AMR][1000 genomes]
rs10412822	1.00[AMR][1000 genomes]
rs10418954	1.00[AMR][1000 genomes]
rs10420125	1.00[AMR][1000 genomes]
rs10420812	1.00[AMR][1000 genomes]
rs10423371	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423818	1.00[AMR][1000 genomes]
rs10424465	0.83[AFR][1000 genomes]
rs28449340	0.92[AFR][1000 genomes]
rs73581108	1.00[AMR][1000 genomes]
rs73581129	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	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv458742	chr19:52808986-52866171	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
8	nsv580008	chr19:52808986-52866171	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
9	esv3401193	chr19:52818960-52909749	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv912300	chr19:52832830-52928039	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv912301	chr19:52835210-52914233	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52840400-52857400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:52840400-52865400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:52840600-52854800	Weak transcription	Gastric	stomach
4	chr19:52840600-52856800	Weak transcription	HSMM	muscle
5	chr19:52840600-52858800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr19:52840600-52861200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:52840800-52857000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:52840800-52857000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:52841400-52857000	Weak transcription	Right Ventricle	heart
10	chr19:52847200-52860000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:52848000-52862600	Weak transcription	Fetal Heart	heart
12	chr19:52848400-52870400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:52848800-52858400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:52849000-52854800	Weak transcription	Psoas Muscle	Psoas
15	chr19:52849000-52857000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr19:52849600-52861400	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr19:52849800-52872200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:52850200-52855200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:52850200-52856000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:52850400-52855400	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr19:52850400-52862000	Strong transcription	Fetal Brain Female	brain
22	chr19:52850600-52855600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:52850800-52854600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr19:52850800-52854800	Strong transcription	Ovary	ovary
25	chr19:52850800-52855400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:52850800-52855400	Strong transcription	Brain Anterior Caudate	brain
27	chr19:52850800-52855800	Strong transcription	Brain Angular Gyrus	brain
28	chr19:52850800-52860600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:52850800-52861200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr19:52850800-52870200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr19:52850800-52870200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:52851000-52856000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr19:52851000-52856400	Strong transcription	Brain Hippocampus Middle	brain
34	chr19:52851000-52857200	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr19:52851200-52854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:52851200-52856800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr19:52851200-52859000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:52851600-52855000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:52851600-52855400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr19:52851600-52864200	Strong transcription	Brain Germinal Matrix	brain
41	chr19:52851800-52857000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr19:52852000-52858200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr19:52852200-52857000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr19:52852200-52858000	Weak transcription	Fetal Kidney	kidney
45	chr19:52852400-52858400	Weak transcription	Colonic Mucosa	Colon
46	chr19:52852400-52858800	Weak transcription	Fetal Brain Male	brain
47	chr19:52852600-52854800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:52852600-52854800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr19:52852600-52856800	Weak transcription	Colon Smooth Muscle	Colon
50	chr19:52852600-52857000	Weak transcription	H1 Cell Line	embryonic stem cell

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