Variant report

Variant	rs1657506
Chromosome Location	chr19:37702010-37702011
allele	C/G
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	YY1	chr19:37700976-37702078	SK-N-SH	brain:	n/a	chr19:37701624-37701632 chr19:37701621-37701643 chr19:37701621-37701631 chr19:37701619-37701636 chr19:37701620-37701636
2	YY1	chr19:37700994-37702015	A549	lung:	n/a	chr19:37701624-37701632 chr19:37701621-37701643 chr19:37701621-37701631 chr19:37701619-37701636 chr19:37701620-37701636

No.	Distal block	Cell Line	Cell type
1	chr17:56734971..56737597-chr19:37700185..37703092,2	MCF-7	breast:
2	chr19:37701764..37704026-chr19:37707505..37710478,3	MCF-7	breast:
3	chr19:37700159..37703141-chr19:37808841..37810702,2	MCF-7	breast:
4	chr19:37700501..37704644-chr19:37706690..37710773,7	K562	blood:
5	chr19:37699969..37703002-chr19:37707384..37710417,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267360	TF binding region
ZNF585B	TF binding region
ENSG00000188283	Chromatin interaction
ENSG00000245680	Chromatin interaction
ENSG00000181666	Chromatin interaction
ENSG00000202077	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10402144	0.95[EUR][1000 genomes]
rs10411236	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1234257	0.93[EUR][1000 genomes]
rs1234259	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1234260	0.83[ASN][1000 genomes]
rs1664696	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs172786	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs188877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28613334	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs320877	0.93[EUR][1000 genomes]
rs320879	0.93[EUR][1000 genomes]
rs320889	0.99[EUR][1000 genomes]
rs320891	1.00[EUR][1000 genomes]
rs860386	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37700400-37702200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr19:37700400-37702200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:37700400-37702200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:37700400-37702200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:37700400-37702200	Active TSS	Primary T cells from cord blood	blood
6	chr19:37700400-37702200	Active TSS	K562	blood
7	chr19:37700400-37702400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr19:37700600-37702200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:37700600-37702200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr19:37700600-37702200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:37700600-37702200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:37700600-37702200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:37700600-37702400	Active TSS	Duodenum Mucosa	Duodenum
14	chr19:37700600-37702400	Active TSS	HMEC	breast
15	chr19:37700800-37702200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:37700800-37702200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr19:37700800-37702200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr19:37700800-37702200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr19:37700800-37702200	Active TSS	Muscle Satellite Cultured Cells	--
20	chr19:37700800-37702200	Active TSS	Brain Germinal Matrix	brain
21	chr19:37700800-37702200	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr19:37700800-37702200	Active TSS	Placenta	Placenta
23	chr19:37700800-37702200	Active TSS	Psoas Muscle	Psoas
24	chr19:37700800-37702200	Active TSS	Right Atrium	heart
25	chr19:37700800-37702200	Active TSS	Hela-S3	cervix
26	chr19:37700800-37702200	Active TSS	HSMM	muscle
27	chr19:37700800-37702400	Active TSS	Brain Cingulate Gyrus	brain
28	chr19:37700800-37702400	Active TSS	Brain Hippocampus Middle	brain
29	chr19:37700800-37702400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:37700800-37702400	Active TSS	Colon Smooth Muscle	Colon
31	chr19:37700800-37702400	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr19:37700800-37702400	Active TSS	NHEK	skin
33	chr19:37700800-37702600	ZNF genes & repeats	Liver	Liver
34	chr19:37700800-37702600	ZNF genes & repeats	A549	lung
35	chr19:37701000-37702200	Active TSS	Brain Substantia Nigra	brain
36	chr19:37701000-37702400	Active TSS	Fetal Kidney	kidney
37	chr19:37701000-37702400	Active TSS	Rectal Smooth Muscle	rectum
38	chr19:37701000-37702400	Active TSS	Stomach Smooth Muscle	stomach
39	chr19:37701000-37702400	ZNF genes & repeats	GM12878-XiMat	blood
40	chr19:37701200-37702200	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr19:37701200-37702200	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr19:37701200-37702400	Active TSS	Thymus	Thymus
43	chr19:37701600-37702200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr19:37701600-37702600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:37701800-37702200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr19:37701800-37702200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr19:37701800-37702200	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr19:37701800-37702200	Enhancers	Pancreas	Pancrea
49	chr19:37701800-37702200	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr19:37701800-37702400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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