Variant report

Variant	rs1990806
Chromosome Location	chr14:78080131-78080132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78080102..78083060-chr14:78184904..78187965,3	K562	blood:
2	chr14:78078614..78081375-chr14:78084834..78087635,2	MCF-7	breast:
3	chr14:78064657..78067063-chr14:78079647..78083000,3	MCF-7	breast:
4	chr14:78068423..78071899-chr14:78079739..78082860,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10139059	0.80[ASN][1000 genomes]
rs10139852	0.82[ASN][1000 genomes]
rs10140195	1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10148189	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10148244	0.82[ASN][1000 genomes]
rs10162458	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10873309	0.80[CHB][hapmap]
rs11626892	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12432164	0.91[ASN][1000 genomes]
rs12587835	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13379058	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs176897	1.00[ASN][1000 genomes]
rs176898	1.00[ASN][1000 genomes]
rs176901	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs176903	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs176907	0.98[ASN][1000 genomes]
rs1861942	0.80[ASN][1000 genomes]
rs2267750	0.80[CHB][hapmap]
rs2299921	0.80[CHB][hapmap]
rs2299922	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs2299924	0.80[CHB][hapmap]
rs2299927	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2299928	0.80[CHB][hapmap];0.80[ASN][1000 genomes]
rs2299929	0.95[CEU][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460392	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28472502	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903614	0.82[ASN][1000 genomes]
rs58598324	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61990852	0.81[ASN][1000 genomes]
rs7144314	0.90[CEU][hapmap];0.84[CHB][hapmap];0.80[JPT][hapmap]
rs7157536	0.92[ASN][1000 genomes]
rs7158771	0.94[ASN][1000 genomes]
rs8018203	0.82[ASN][1000 genomes]
rs9944097	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78055000-78081600	Weak transcription	Right Ventricle	heart
2	chr14:78057600-78081400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:78063400-78081600	Weak transcription	Fetal Stomach	stomach
4	chr14:78065600-78081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:78069200-78081600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:78070200-78081600	Weak transcription	Liver	Liver
7	chr14:78070400-78081400	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:78070600-78081400	Weak transcription	Ovary	ovary
9	chr14:78070600-78081600	Weak transcription	Esophagus	oesophagus
10	chr14:78072400-78081200	Weak transcription	Fetal Heart	heart
11	chr14:78072400-78081600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:78072800-78081400	Weak transcription	Colonic Mucosa	Colon
13	chr14:78073400-78081600	Weak transcription	Psoas Muscle	Psoas
14	chr14:78074200-78081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:78074600-78081200	Weak transcription	Fetal Intestine Large	intestine
16	chr14:78074600-78081400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:78074600-78081400	Weak transcription	Right Atrium	heart
18	chr14:78074600-78081600	Weak transcription	Fetal Thymus	thymus
19	chr14:78074800-78081400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:78075200-78080400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:78075600-78082000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:78076600-78082000	Weak transcription	Gastric	stomach
23	chr14:78076800-78081600	Weak transcription	Lung	lung
24	chr14:78077000-78080200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:78077000-78080400	Enhancers	Brain Substantia Nigra	brain
26	chr14:78077200-78080600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr14:78077200-78082000	Weak transcription	Spleen	Spleen
28	chr14:78077600-78081200	Enhancers	Brain Hippocampus Middle	brain
29	chr14:78077800-78080600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr14:78078000-78080400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr14:78078200-78080200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:78078200-78080600	Enhancers	Brain Cingulate Gyrus	brain
33	chr14:78078200-78080600	Enhancers	HSMMtube	muscle
34	chr14:78078200-78080600	Enhancers	NHEK	skin
35	chr14:78078200-78081200	Enhancers	Primary B cells from cord blood	blood
36	chr14:78078200-78081400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:78078200-78082000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:78078400-78080200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:78078400-78080200	Enhancers	Duodenum Mucosa	Duodenum
40	chr14:78078400-78080200	Enhancers	Hela-S3	cervix
41	chr14:78078400-78080200	Enhancers	NHDF-Ad	bronchial
42	chr14:78078400-78080400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr14:78078400-78080600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr14:78078400-78080600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:78078400-78080600	Enhancers	HMEC	breast
46	chr14:78078400-78080800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr14:78078400-78080800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr14:78078400-78081000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:78078400-78081200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr14:78078400-78081200	Enhancers	Primary neutrophils fromperipheralblood	blood

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