Variant report

Variant	rs62107480
Chromosome Location	chr19:37713145-37713146
allele	A/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	GATA3	chr19:37712881-37713194	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37707730..37710581-chr19:37712295..37715245,3	MCF-7	breast:
2	chr19:37700579..37702505-chr19:37711675..37713622,2	K562	blood:

Variant related genes	Relation type
ZNF585B	TF binding region
ZNF383	TF binding region
ENSG00000245680	Chromatin interaction
ENSG00000267360	Chromatin interaction
ENSG00000188283	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1148395	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1234256	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234258	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	0.92[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	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73023557	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][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	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37709600-37714800	ZNF genes & repeats	A549	lung
2	chr19:37709800-37718400	Weak transcription	Aorta	Aorta
3	chr19:37710000-37716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:37710000-37716000	Weak transcription	Fetal Thymus	thymus
5	chr19:37710000-37717000	Weak transcription	NH-A	brain
6	chr19:37710000-37717200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:37710000-37718400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:37710000-37720800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:37710000-37721000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:37710000-37728600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:37710200-37713400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:37710200-37713600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:37710200-37713600	Strong transcription	Fetal Stomach	stomach
14	chr19:37710200-37713800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
15	chr19:37710200-37714000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:37710200-37714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:37710200-37714000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:37710200-37715200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:37710200-37715400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr19:37710200-37715400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr19:37710200-37715800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:37710200-37715800	Weak transcription	Brain Anterior Caudate	brain
23	chr19:37710200-37716000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr19:37710200-37716200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:37710200-37716200	Weak transcription	Brain Germinal Matrix	brain
26	chr19:37710200-37716200	Weak transcription	Brain Hippocampus Middle	brain
27	chr19:37710200-37716200	Weak transcription	Colonic Mucosa	Colon
28	chr19:37710200-37716200	Weak transcription	Fetal Kidney	kidney
29	chr19:37710200-37716200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr19:37710200-37716200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr19:37710200-37716200	Weak transcription	HSMMtube	muscle
32	chr19:37710200-37716400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr19:37710200-37716400	Weak transcription	Colon Smooth Muscle	Colon
34	chr19:37710200-37716800	Weak transcription	Small Intestine	intestine
35	chr19:37710200-37717000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr19:37710200-37718400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:37710200-37718800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:37710200-37718800	Weak transcription	HUVEC	blood vessel
39	chr19:37710200-37718800	Weak transcription	NHLF	lung
40	chr19:37710200-37719000	Weak transcription	HepG2	liver
41	chr19:37710200-37720800	Weak transcription	K562	blood
42	chr19:37710200-37723800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
43	chr19:37710200-37725600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr19:37710200-37725600	Weak transcription	Fetal Heart	heart
45	chr19:37710200-37728600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:37710400-37713400	Weak transcription	Ovary	ovary
47	chr19:37710400-37713600	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr19:37710400-37713600	Strong transcription	Fetal Muscle Leg	muscle
49	chr19:37710400-37713600	Weak transcription	HSMM	muscle
50	chr19:37710400-37713800	Strong transcription	Thymus	Thymus

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