Variant report

Variant	rs10401345
Chromosome Location	chr19:20044886-20044887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10405744	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10407807	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10409069	0.86[ASN][1000 genomes]
rs10409286	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10411195	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10413348	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10414768	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10419102	0.91[ASN][1000 genomes]
rs10426764	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11878429	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11878883	0.91[ASN][1000 genomes]
rs11881577	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1303719	0.91[ASN][1000 genomes]
rs2192619	0.91[ASN][1000 genomes]
rs2192620	0.91[ASN][1000 genomes]
rs2192621	0.91[ASN][1000 genomes]
rs2192622	0.91[ASN][1000 genomes]
rs2215914	0.91[ASN][1000 genomes]
rs2215915	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28508418	0.91[ASN][1000 genomes]
rs28669060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28695518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4239640	0.91[ASN][1000 genomes]
rs55700550	0.84[ASN][1000 genomes]
rs57706289	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs59932376	0.84[ASN][1000 genomes]
rs60268223	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7258519	0.84[ASN][1000 genomes]
rs73530957	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	nsv961192	chr19:19906394-20083740	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3319016	chr19:19917475-20819154	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking 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 miRNA	56 gene(s)	inside rSNPs	diseases
5	esv3319017	chr19:19917475-20819154	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
6	esv3413756	chr19:19936066-20072059	ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	esv3380276	chr19:19936583-20073601	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	esv3429980	chr19:19943721-20102072	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1061846	chr19:19946927-20595412	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	esv3390957	chr19:19965887-20819154	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	53 gene(s)	inside rSNPs	diseases
11	nsv869122	chr19:19969851-20595412	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
12	nsv1057569	chr19:19973268-20193556	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS 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	23 gene(s)	inside rSNPs	diseases
13	nsv1059158	chr19:19973489-20576161	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
14	esv3407363	chr19:20000919-20059307	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1056595	chr19:20020626-20061367	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv458376	chr19:20021046-20151257	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv578800	chr19:20021046-20151257	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv911319	chr19:20025940-20170214	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv870354	chr19:20043821-20576175	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20032000-20046800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr19:20032600-20046400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:20032600-20046800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:20032600-20047000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:20032600-20047000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr19:20032800-20046600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr19:20033400-20046400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:20033400-20046600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr19:20033400-20047000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:20033400-20047800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:20033600-20045600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:20034000-20046000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr19:20034000-20046400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:20034000-20046600	ZNF genes & repeats	Brain Germinal Matrix	brain
15	chr19:20034000-20047000	ZNF genes & repeats	Dnd41	blood
16	chr19:20034200-20046000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:20034200-20046400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr19:20034800-20045600	Weak transcription	Pancreas	Pancrea
19	chr19:20037000-20046400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr19:20041000-20046200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr19:20041200-20046200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
22	chr19:20041200-20046400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:20041200-20046400	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:20041200-20049800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr19:20041400-20045000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:20041400-20045400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:20041400-20046200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
28	chr19:20041400-20046400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:20041600-20046000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
30	chr19:20041600-20046600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr19:20041800-20046800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:20041800-20047000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
33	chr19:20042000-20045200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
34	chr19:20042000-20046200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:20042000-20046200	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr19:20042000-20047200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:20042000-20047200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:20042200-20046000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
39	chr19:20042200-20046400	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr19:20042200-20046800	ZNF genes & repeats	Fetal Lung	lung
41	chr19:20042200-20047000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr19:20042800-20045600	Strong transcription	Placenta	Placenta
43	chr19:20042800-20045800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
44	chr19:20042800-20046200	ZNF genes & repeats	Primary B cells from cord blood	blood
45	chr19:20043000-20045600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:20043000-20045600	Weak transcription	Fetal Intestine Small	intestine
47	chr19:20043000-20046200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
48	chr19:20043000-20046200	ZNF genes & repeats	Fetal Heart	heart
49	chr19:20043000-20046200	ZNF genes & repeats	Fetal Kidney	kidney
50	chr19:20043000-20046400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--

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