Variant report

Variant	rs117890521
Chromosome Location	chr19:52889442-52889443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:46 , 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	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
8	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
9	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
10	nsv912302	chr19:52859828-52928039	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv2536	chr19:52869457-52902064	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv912303	chr19:52874140-52928039	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3372061	chr19:52877189-52902218	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription 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	11 gene(s)	inside rSNPs	diseases
14	nsv521079	chr19:52886137-52917626	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv580009	chr19:52887282-52890646	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv580010	chr19:52887427-52890646	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3511780	chr19:52887690-52892388	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv511613	chr19:52888071-52895166	Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv3511776	chr19:52888090-52892388	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv3394429	chr19:52888140-52892538	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv3511778	chr19:52888454-52893799	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv512590	chr19:52888580-52891406	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv580011	chr19:52888620-52890646	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv3318189	chr19:52888677-52891614	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv3511779	chr19:52888688-52891541	Strong transcription ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3511781	chr19:52888700-52891517	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv3318188	chr19:52888708-52891501	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv3318190	chr19:52888725-52891481	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv3318191	chr19:52888737-52891467	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv3511777	chr19:52888744-52891471	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv17108	chr19:52888750-52891129	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv3318187	chr19:52888750-52891428	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv828613	chr19:52888767-52891260	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv828614	chr19:52888767-52891450	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv828615	chr19:52888767-52936555	ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
36	esv3318192	chr19:52888817-52891387	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv3511782	chr19:52888817-52891387	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv580012	chr19:52888897-52890292	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
39	nsv580013	chr19:52888897-52890376	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
40	nsv580014	chr19:52888897-52890454	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
41	nsv580015	chr19:52888897-52890646	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
42	nsv580016	chr19:52888897-52890809	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
43	nsv580017	chr19:52888950-52890376	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
44	nsv580018	chr19:52888950-52890454	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
45	nsv580019	chr19:52888950-52890646	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
46	esv32843	chr19:52889022-52891109	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52876200-52889600	ZNF genes & repeats	Fetal Kidney	kidney
2	chr19:52876200-52889800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:52876200-52889800	ZNF genes & repeats	Fetal Brain Female	brain
4	chr19:52876200-52890000	ZNF genes & repeats	Ovary	ovary
5	chr19:52876200-52890600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:52876200-52890600	ZNF genes & repeats	Fetal Lung	lung
7	chr19:52876200-52890800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:52876200-52890800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:52876200-52890800	ZNF genes & repeats	Liver	Liver
10	chr19:52876200-52893400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr19:52876200-52893800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr19:52876200-52894000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:52876200-52894000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:52876200-52894200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:52876200-52895000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:52876400-52890600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
17	chr19:52876400-52891000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:52877400-52893800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr19:52877800-52889800	ZNF genes & repeats	Fetal Muscle Leg	muscle
20	chr19:52877800-52894200	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr19:52879000-52889800	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr19:52879000-52889800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr19:52879000-52890600	ZNF genes & repeats	Colon Smooth Muscle	Colon
24	chr19:52879600-52890400	ZNF genes & repeats	Brain Germinal Matrix	brain
25	chr19:52880200-52890600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr19:52880400-52893800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr19:52882000-52890600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr19:52884600-52889800	ZNF genes & repeats	Dnd41	blood
29	chr19:52885600-52889800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
30	chr19:52885800-52889600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
31	chr19:52885800-52889800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:52885800-52890600	ZNF genes & repeats	Osteobl	bone
33	chr19:52885800-52890800	ZNF genes & repeats	Brain Hippocampus Middle	brain
34	chr19:52886000-52893400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr19:52886400-52889800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:52886600-52889800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:52886600-52889800	ZNF genes & repeats	Gastric	stomach
38	chr19:52886600-52889800	ZNF genes & repeats	Left Ventricle	heart
39	chr19:52886600-52890000	ZNF genes & repeats	Aorta	Aorta
40	chr19:52886600-52890600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
41	chr19:52886600-52890600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
42	chr19:52888000-52897600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:52888600-52891200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr19:52888600-52891400	Weak transcription	Thymus	Thymus
45	chr19:52888600-52892800	Weak transcription	Right Ventricle	heart
46	chr19:52888600-52898600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr19:52888800-52889800	Strong transcription	Fetal Heart	heart
48	chr19:52888800-52890200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr19:52888800-52891200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr19:52888800-52891800	Weak transcription	NH-A	brain

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