Variant report

Variant	rs2015976
Chromosome Location	chr8:11500649-11500650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11490989..11493930-chr8:11499186..11501140,2	K562	blood:
2	chr8:11472906..11474859-chr8:11497875..11500697,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GATA4-1	chr8:11500307-11501029	NONHSAT125069

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12549182	0.94[EUR][1000 genomes]
rs17153551	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17153579	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1809356	0.96[ASN][1000 genomes]
rs2248451	0.83[ASN][1000 genomes]
rs2256399	0.81[AMR][1000 genomes]
rs56965246	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59902454	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11498400-11502400	Enhancers	Pancreas	Pancrea
2	chr8:11498600-11500800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:11498600-11500800	Enhancers	Fetal Intestine Small	intestine
4	chr8:11499200-11500800	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr8:11499400-11501600	Weak transcription	Gastric	stomach
6	chr8:11499800-11500800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:11499800-11500800	Active TSS	Brain Germinal Matrix	brain
8	chr8:11499800-11501400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr8:11499800-11501400	Bivalent Enhancer	Fetal Lung	lung
10	chr8:11500000-11500800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:11500000-11500800	Enhancers	Duodenum Mucosa	Duodenum
12	chr8:11500000-11501200	Enhancers	HSMMtube	muscle
13	chr8:11500000-11502600	Enhancers	Primary B cells from cord blood	blood
14	chr8:11500000-11502800	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:11500200-11500800	Bivalent Enhancer	Fetal Intestine Large	intestine
16	chr8:11500400-11500800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr8:11500400-11501000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:11500400-11501600	Enhancers	Ovary	ovary
19	chr8:11500400-11501800	Enhancers	Right Ventricle	heart
20	chr8:11500400-11503400	Weak transcription	Right Atrium	heart
21	chr8:11500600-11500800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:11500600-11500800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr8:11500600-11500800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr8:11500600-11500800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:11500600-11500800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:11500600-11500800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
27	chr8:11500600-11501000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr8:11500600-11501000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:11500600-11501000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:11500600-11501000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr8:11500600-11501000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:11500600-11501400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:11500600-11501400	Weak transcription	Stomach Mucosa	stomach
34	chr8:11500600-11501600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr8:11500600-11501600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr8:11500600-11501800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:11500600-11502200	Bivalent Enhancer	HepG2	liver
38	chr8:11500600-11503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:11500600-11504200	Enhancers	Fetal Heart	heart

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