Variant report

Variant	rs16995488
Chromosome Location	chr19:18422631-18422632
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18422324..18424215-chr19:18524858..18526512,2	K562	blood:
2	chr19:18418003..18420666-chr19:18420756..18424588,3	MCF-7	breast:
3	chr19:18400699..18403651-chr19:18419852..18422642,3	MCF-7	breast:
4	chr19:18421126..18423149-chr19:18527568..18529347,2	MCF-7	breast:
5	chr19:18382564..18395263-chr19:18409643..18446343,165	MCF-7	breast:
6	chr19:18410193..18413577-chr19:18420795..18423567,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130518	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000267959	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1035365	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11881943	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1978423	1.00[GIH][hapmap]
rs4641872	0.86[CEU][hapmap];1.00[GIH][hapmap]
rs56357639	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73005433	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73005494	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73007704	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73007706	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73007709	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73007717	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
5	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
6	nsv911273	chr19:18386798-18454825	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18415800-18433000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:18416400-18432800	Weak transcription	HSMMtube	muscle
3	chr19:18416600-18424000	Weak transcription	Osteobl	bone
4	chr19:18416600-18426600	Weak transcription	HSMM	muscle
5	chr19:18416600-18426800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:18416600-18432200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:18416600-18432600	Weak transcription	Fetal Kidney	kidney
8	chr19:18416800-18423000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:18416800-18423400	Genic enhancers	Spleen	Spleen
10	chr19:18416800-18424000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:18416800-18424200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:18416800-18426200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:18416800-18426800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr19:18417000-18423000	Weak transcription	K562	blood
15	chr19:18417000-18425600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr19:18417000-18426200	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr19:18417000-18426200	Strong transcription	Right Ventricle	heart
18	chr19:18417000-18426600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:18417000-18426600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
20	chr19:18417000-18426600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:18417000-18426800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr19:18417000-18427000	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr19:18417000-18427000	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:18417000-18427200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:18417000-18427200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr19:18417000-18427200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr19:18417000-18427400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:18417000-18428400	Weak transcription	HUVEC	blood vessel
29	chr19:18417200-18425800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr19:18417200-18426600	Strong transcription	Brain Germinal Matrix	brain
31	chr19:18417200-18426800	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:18417200-18427800	Strong transcription	Dnd41	blood
33	chr19:18417200-18432000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:18417400-18423400	Genic enhancers	Placenta	Placenta
35	chr19:18417400-18427000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:18417400-18427600	Strong transcription	Thymus	Thymus
37	chr19:18417600-18422800	Weak transcription	Small Intestine	intestine
38	chr19:18417600-18428800	Weak transcription	Right Atrium	heart
39	chr19:18417800-18425200	Strong transcription	Fetal Brain Female	brain
40	chr19:18417800-18426600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:18418000-18422800	Strong transcription	Pancreas	Pancrea
42	chr19:18418200-18424000	Weak transcription	NH-A	brain
43	chr19:18418400-18422800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr19:18418400-18423800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:18418400-18431800	Weak transcription	NHDF-Ad	bronchial
46	chr19:18418600-18423400	Weak transcription	HMEC	breast
47	chr19:18418800-18427000	Strong transcription	NHLF	lung
48	chr19:18418800-18427600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr19:18419000-18423600	Strong transcription	Left Ventricle	heart
50	chr19:18419000-18425800	Strong transcription	NHEK	skin

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