Variant report

Variant	rs757348
Chromosome Location	chr19:18810795-18810796
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18793196..18796069-chr19:18810144..18811695,2	K562	blood:
2	chr19:18810589..18812335-chr19:18824171..18827003,2	MCF-7	breast:
3	chr19:18777019..18779428-chr19:18809740..18812402,2	K562	blood:
4	chr19:18653429..18654988-chr19:18810315..18813230,2	K562	blood:
5	chr19:18809327..18811934-chr19:18826162..18828018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105662	Chromatin interaction
ENSG00000105701	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12608703	0.95[ASN][1000 genomes]
rs12610610	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12610636	0.90[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13345612	0.95[ASN][1000 genomes]
rs56244399	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56321022	0.95[ASN][1000 genomes]
rs7253089	1.00[YRI][hapmap]
rs7253238	1.00[YRI][hapmap]
rs7254689	1.00[YRI][hapmap]
rs7256742	1.00[YRI][hapmap]
rs739848	0.98[ASN][1000 genomes]
rs739850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911282	chr19:18624964-18928480	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv911286	chr19:18652844-18811112	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv911289	chr19:18700047-18811112	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv3393439	chr19:18807352-18811750	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv960927	chr19:18808010-18837082	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18795400-18810800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:18795400-18811400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:18795400-18811400	Weak transcription	NH-A	brain
4	chr19:18795600-18810800	Weak transcription	Ovary	ovary
5	chr19:18795800-18810800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr19:18795800-18811000	Weak transcription	Fetal Intestine Large	intestine
7	chr19:18795800-18811400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:18795800-18811400	Weak transcription	Fetal Lung	lung
9	chr19:18795800-18811400	Weak transcription	Right Atrium	heart
10	chr19:18796200-18811200	Weak transcription	Fetal Brain Female	brain
11	chr19:18796600-18810800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:18797200-18811200	Weak transcription	NHLF	lung
13	chr19:18797200-18822400	Weak transcription	HepG2	liver
14	chr19:18798400-18810800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:18799000-18810800	Weak transcription	Brain Germinal Matrix	brain
16	chr19:18799200-18810800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:18803200-18811000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:18807800-18811000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr19:18808000-18811600	Weak transcription	Fetal Kidney	kidney
20	chr19:18808000-18811600	Enhancers	Stomach Mucosa	stomach
21	chr19:18808400-18811000	Enhancers	Duodenum Mucosa	Duodenum
22	chr19:18808400-18811400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:18808400-18811400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr19:18808600-18811000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:18808600-18811600	Weak transcription	Psoas Muscle	Psoas
26	chr19:18809000-18811400	Enhancers	Fetal Muscle Leg	muscle
27	chr19:18809200-18811400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr19:18809200-18811400	Enhancers	Esophagus	oesophagus
29	chr19:18809200-18811400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr19:18809400-18811000	Enhancers	Primary B cells from cord blood	blood
31	chr19:18809400-18811000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr19:18809400-18811000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:18809400-18811400	Enhancers	Pancreas	Pancrea
34	chr19:18809400-18811600	Enhancers	Spleen	Spleen
35	chr19:18809600-18811000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:18809600-18811400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:18809600-18811400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr19:18809600-18811400	Enhancers	Fetal Thymus	thymus
39	chr19:18809600-18811400	Enhancers	Dnd41	blood
40	chr19:18809600-18811600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:18809600-18811600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr19:18809800-18810800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:18809800-18810800	Weak transcription	Right Ventricle	heart
44	chr19:18809800-18811000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr19:18809800-18811000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr19:18809800-18811200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr19:18809800-18811600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:18810000-18811000	Weak transcription	Lung	lung
49	chr19:18810000-18811000	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr19:18810000-18811000	Enhancers	Thymus	Thymus

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