Variant report

Variant	rs4128744
Chromosome Location	chr8:19919655-19919656
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	chr8:19917481..19922077-chr8:19926619..19931502,5	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1059611	0.90[JPT][hapmap];0.86[TSI][hapmap]
rs11570891	0.91[JPT][hapmap]
rs11991231	0.91[ASN][1000 genomes]
rs12679834	0.91[JPT][hapmap];0.91[TSI][hapmap]
rs13257289	0.82[JPT][hapmap]
rs325	0.91[JPT][hapmap]
rs328	0.91[JPT][hapmap]
rs3735964	0.91[JPT][hapmap];0.91[TSI][hapmap]
rs9644568	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.92[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv890633	chr8:19875100-19985382	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4128744	CNOT7	cis	parietal	SCAN
rs4128744	TNFRSF10D	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19912600-19920600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:19914800-19928200	Weak transcription	K562	blood
3	chr8:19916400-19920600	Weak transcription	Right Ventricle	heart
4	chr8:19917200-19920200	Enhancers	Fetal Heart	heart
5	chr8:19917800-19919800	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:19918600-19920400	Enhancers	Fetal Lung	lung
7	chr8:19919200-19921400	Enhancers	Hela-S3	cervix
8	chr8:19919400-19919800	Enhancers	Left Ventricle	heart
9	chr8:19919400-19919800	Enhancers	Right Atrium	heart
10	chr8:19919400-19919800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr8:19919400-19919800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr8:19919400-19920000	Enhancers	Fetal Muscle Leg	muscle
13	chr8:19919400-19920000	Enhancers	Psoas Muscle	Psoas
14	chr8:19919400-19921200	Enhancers	Adipose Nuclei	Adipose
15	chr8:19919400-19921600	Enhancers	Stomach Smooth Muscle	stomach
16	chr8:19919600-19919800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:19919600-19919800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:19919600-19919800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:19919600-19919800	Enhancers	Aorta	Aorta
20	chr8:19919600-19920200	Enhancers	Ovary	ovary
21	chr8:19919600-19920800	Enhancers	NHDF-Ad	bronchial
22	chr8:19919600-19921000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:19919600-19921000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:19919600-19921200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:19919600-19921600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:19919600-19921600	Enhancers	Rectal Smooth Muscle	rectum
27	chr8:19919600-19931600	Weak transcription	Lung	lung

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