Variant report

Variant	rs3745535
Chromosome Location	chr19:51520487-51520488
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51517770..51520731-chr19:51521022..51523368,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129451	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10403407	1.00[LWK][hapmap]
rs1697545	1.00[LWK][hapmap]
rs2075688	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2569448	0.81[CEU][hapmap]
rs2569454	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2739427	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2739428	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2739433	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs3760738	0.88[ASW][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[MEX][hapmap];0.87[MKK][hapmap];0.84[TSI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912291	chr19:51505725-51537682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3745535	CTC-518B2.12	cis	Skin Sun Exposed Lower leg	GTEx
rs3745535	KLK10	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51519800-51521400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:51519800-51522000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr19:51519800-51522400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr19:51520000-51520600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
5	chr19:51520000-51520600	Bivalent/Poised TSS	A549	lung
6	chr19:51520000-51520800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr19:51520000-51520800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:51520000-51520800	Bivalent Enhancer	Placenta	Placenta
9	chr19:51520000-51520800	Flanking Active TSS	HMEC	breast
10	chr19:51520000-51521000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr19:51520000-51521000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:51520000-51521000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr19:51520000-51521000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
14	chr19:51520000-51521000	Bivalent Enhancer	Spleen	Spleen
15	chr19:51520000-51521200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr19:51520000-51521200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr19:51520000-51522000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:51520000-51522400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:51520000-51522400	Active TSS	NHEK	skin
20	chr19:51520000-51522800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
21	chr19:51520000-51523000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:51520000-51523000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr19:51520000-51523400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr19:51520200-51520600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:51520200-51520600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:51520200-51520600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:51520200-51520600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:51520200-51520600	Active TSS	Brain Substantia Nigra	brain
29	chr19:51520200-51520600	Bivalent Enhancer	Colonic Mucosa	Colon
30	chr19:51520200-51520600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
31	chr19:51520200-51520600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
32	chr19:51520200-51520600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
33	chr19:51520200-51520600	Transcr. at gene 5' and 3'	Right Atrium	heart
34	chr19:51520200-51520600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr19:51520200-51520600	Bivalent Enhancer	HUVEC	blood vessel
36	chr19:51520200-51520600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr19:51520200-51520800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:51520200-51520800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:51520200-51520800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr19:51520200-51520800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr19:51520200-51520800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr19:51520200-51520800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:51520200-51520800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
44	chr19:51520200-51520800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr19:51520200-51520800	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr19:51520200-51520800	Flanking Active TSS	Pancreas	Pancrea
47	chr19:51520200-51520800	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr19:51520200-51520800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr19:51520200-51521000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr19:51520200-51521000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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