Variant report

Variant	rs73009442
Chromosome Location	chr19:18475073-18475074
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18336332..18339106-chr19:18472818..18475815,2	MCF-7	breast:
2	chr19:18392497..18394441-chr19:18474150..18476571,2	MCF-7	breast:
3	chr19:18474398..18477228-chr19:18489482..18491210,2	MCF-7	breast:
4	chr19:18474428..18476480-chr19:18485604..18487652,2	MCF-7	breast:
5	chr19:18472890..18477626-chr19:18495173..18500075,7	MCF-7	breast:
6	chr19:18474546..18477478-chr19:18478886..18480822,3	MCF-7	breast:
7	chr19:18466785..18471725-chr19:18472052..18476648,6	K562	blood:
8	chr19:18470204..18480928-chr19:18494320..18503112,19	MCF-7	breast:
9	chr19:18389083..18394452-chr19:18473748..18478250,14	K562	blood:
10	chr19:18474310..18475900-chr19:18529285..18530908,2	K562	blood:
11	chr19:18391351..18393640-chr19:18474828..18477634,2	MCF-7	breast:
12	chr19:18387500..18394364-chr19:18474382..18480258,16	K562	blood:
13	chr19:18474455..18476591-chr19:18526226..18528576,3	K562	blood:
14	chr19:18469528..18471962-chr19:18472757..18475782,3	MCF-7	breast:
15	chr19:18402354..18403931-chr19:18474234..18475784,2	K562	blood:
16	chr19:18449739..18451529-chr19:18472846..18475739,2	K562	blood:
17	chr19:18471150..18480020-chr19:18495501..18504468,30	K562	blood:
18	chr19:18474337..18477459-chr19:18488013..18493073,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130522	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000105650	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10401774	1.00[ASN][1000 genomes]
rs10403547	1.00[ASN][1000 genomes]
rs10415319	1.00[ASN][1000 genomes]
rs10415765	1.00[ASN][1000 genomes]
rs10423237	1.00[ASN][1000 genomes]
rs10424419	1.00[ASN][1000 genomes]
rs11881039	1.00[ASN][1000 genomes]
rs11882198	1.00[ASN][1000 genomes]
rs1978423	1.00[ASN][1000 genomes]
rs28503677	1.00[ASN][1000 genomes]
rs55887446	1.00[ASN][1000 genomes]
rs56104914	1.00[ASN][1000 genomes]
rs56326450	1.00[ASN][1000 genomes]
rs6512259	1.00[ASN][1000 genomes]
rs66732430	1.00[ASN][1000 genomes]
rs67348050	1.00[ASN][1000 genomes]
rs7251555	1.00[ASN][1000 genomes]
rs7253758	1.00[ASN][1000 genomes]
rs7255983	1.00[ASN][1000 genomes]
rs8102478	1.00[ASN][1000 genomes]
rs8102906	1.00[ASN][1000 genomes]
rs8112644	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	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18452400-18484800	Weak transcription	Right Atrium	heart
2	chr19:18452600-18476000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:18452600-18484400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr19:18452800-18484600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:18457200-18475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:18457400-18475400	Weak transcription	Stomach Mucosa	stomach
7	chr19:18457400-18475600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:18464200-18475600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr19:18466200-18477000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr19:18466600-18475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:18468200-18475200	Weak transcription	HMEC	breast
12	chr19:18468400-18478200	Strong transcription	Thymus	Thymus
13	chr19:18468600-18475400	Weak transcription	NHEK	skin
14	chr19:18468600-18476600	Weak transcription	Aorta	Aorta
15	chr19:18468600-18479600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:18468600-18484600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr19:18468800-18475600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:18468800-18479400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:18469000-18475400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:18469000-18475400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:18469000-18475400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:18469000-18475400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:18469000-18475400	Weak transcription	Esophagus	oesophagus
24	chr19:18469000-18475400	Weak transcription	HSMM	muscle
25	chr19:18469000-18475600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:18469000-18476000	Weak transcription	Fetal Kidney	kidney
27	chr19:18469000-18484200	Weak transcription	Primary B cells from cord blood	blood
28	chr19:18469000-18484600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:18470200-18484400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:18470400-18475400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:18470800-18475400	Weak transcription	GM12878-XiMat	blood
32	chr19:18471000-18475400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr19:18471000-18476000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr19:18471200-18481200	Enhancers	Placenta	Placenta
35	chr19:18472400-18477200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr19:18472800-18475200	Weak transcription	NHDF-Ad	bronchial
37	chr19:18473000-18475200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:18473000-18475400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr19:18473000-18475400	Weak transcription	Left Ventricle	heart
40	chr19:18473000-18484400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr19:18473000-18484800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:18473200-18475400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr19:18473200-18484400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr19:18473600-18477200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr19:18473800-18475400	Genic enhancers	K562	blood
46	chr19:18473800-18477000	Genic enhancers	Fetal Intestine Large	intestine
47	chr19:18473800-18477200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr19:18473800-18477400	Enhancers	HUVEC	blood vessel
49	chr19:18474000-18475200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr19:18474000-18475800	Weak transcription	Primary hematopoietic stem cells	blood

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