Variant report

Variant	rs34201697
Chromosome Location	chr7:19444469-19444470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs13222809	0.91[ASN][1000 genomes]
rs13239886	1.00[ASN][1000 genomes]
rs17353292	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17353320	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17353334	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34712161	0.84[ASN][1000 genomes]
rs35902195	0.84[ASN][1000 genomes]
rs35984949	0.81[ASN][1000 genomes]
rs71530656	0.95[ASN][1000 genomes]
rs73260241	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73260243	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73260244	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7341436	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7341438	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022118	chr7:19178075-19518160	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887819	chr7:19262091-19658389	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1021194	chr7:19290916-19521199	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1021479	chr7:19363947-19485519	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv887820	chr7:19378959-19448729	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv887821	chr7:19381523-19448729	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2752996	chr7:19392086-19684019	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2757219	chr7:19396146-19574066	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	esv2759517	chr7:19396146-19620962	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv442033	chr7:19412599-19545311	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv818491	chr7:19413271-19547949	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
13	esv34500	chr7:19415543-19573763	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
14	nsv470155	chr7:19421606-19452649	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
15	esv2758107	chr7:19436043-19620962	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19440600-19444600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:19441600-19444600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:19443600-19444800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:19443600-19444800	Enhancers	Osteobl	bone
5	chr7:19443800-19444800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:19443800-19445000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:19444000-19444600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:19444000-19444800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:19444200-19444600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:19444200-19444600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr7:19444200-19444600	Enhancers	Hela-S3	cervix
12	chr7:19444200-19444800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:19444200-19444800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:19444200-19444800	Enhancers	NHDF-Ad	bronchial
15	chr7:19444200-19445200	Enhancers	NHEK	skin
16	chr7:19444200-19445400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:19444200-19445400	Flanking Active TSS	A549	lung
18	chr7:19444200-19445800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:19444200-19445800	Enhancers	HSMMtube	muscle
20	chr7:19444200-19446000	Enhancers	HMEC	breast
21	chr7:19444200-19446000	Enhancers	NH-A	brain
22	chr7:19444200-19446200	Enhancers	HSMM	muscle
23	chr7:19444200-19446800	Enhancers	Dnd41	blood
24	chr7:19444400-19445000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:19444400-19445000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:19444400-19445000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr7:19444400-19445000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:19444400-19445000	Enhancers	Fetal Heart	heart
29	chr7:19444400-19445400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:19444400-19445400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:19444400-19445400	Enhancers	Primary hematopoietic stem cells	blood
32	chr7:19444400-19445400	Enhancers	HUVEC	blood vessel
33	chr7:19444400-19446400	Enhancers	HUES48 Cell Line	embryonic stem cell

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