Variant report

Variant	rs1234258
Chromosome Location	chr19:37718115-37718116
allele	C/T
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	CTCF	chr19:37718038-37718188	Lung_OC	lung:	n/a	n/a

Variant related genes	Relation type
ZNF383	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1148395	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1234254	0.80[AFR][1000 genomes]
rs1234256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234261	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs170379	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs320878	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs320880	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs320890	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62107480	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73023557	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers 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 target site	25 gene(s)	inside rSNPs	diseases
6	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS 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 target site	17 gene(s)	inside rSNPs	diseases
9	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv961287	chr19:37708789-37742224	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
12	nsv960833	chr19:37715348-37733416	Strong transcription ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37709800-37718400	Weak transcription	Aorta	Aorta
2	chr19:37710000-37718400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:37710000-37720800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:37710000-37721000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:37710000-37728600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:37710200-37718400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:37710200-37718800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:37710200-37718800	Weak transcription	HUVEC	blood vessel
9	chr19:37710200-37718800	Weak transcription	NHLF	lung
10	chr19:37710200-37719000	Weak transcription	HepG2	liver
11	chr19:37710200-37720800	Weak transcription	K562	blood
12	chr19:37710200-37723800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr19:37710200-37725600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr19:37710200-37725600	Weak transcription	Fetal Heart	heart
15	chr19:37710200-37728600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:37710400-37724200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:37710400-37744200	ZNF genes & repeats	Liver	Liver
18	chr19:37710600-37718400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:37710600-37718400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:37710600-37725600	Weak transcription	Fetal Brain Male	brain
21	chr19:37711000-37718400	Weak transcription	Right Ventricle	heart
22	chr19:37711000-37737000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:37711000-37737800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:37711200-37725000	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:37711200-37738200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr19:37711400-37718400	Weak transcription	Spleen	Spleen
27	chr19:37711600-37719200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:37712200-37719600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr19:37713400-37720000	Strong transcription	Dnd41	blood
30	chr19:37713400-37728400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:37714600-37723400	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr19:37715200-37720800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:37715200-37724000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:37715200-37736600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr19:37715200-37740400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr19:37715400-37718200	Strong transcription	Thymus	Thymus
37	chr19:37715400-37718400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr19:37715400-37718400	Strong transcription	Left Ventricle	heart
39	chr19:37715400-37719800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:37715400-37719800	Strong transcription	Fetal Muscle Leg	muscle
41	chr19:37715400-37720000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:37715400-37720800	Strong transcription	Fetal Stomach	stomach
43	chr19:37715400-37724000	ZNF genes & repeats	A549	lung
44	chr19:37715400-37732600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
45	chr19:37715400-37738400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr19:37715600-37718200	Strong transcription	Ovary	ovary
47	chr19:37715600-37722800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr19:37715600-37723000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr19:37715600-37723400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:37715600-37727000	Strong transcription	Placenta	Placenta

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