Variant report

Variant	rs59447685
Chromosome Location	chr7:50838136-50838137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50833022..50835680-chr7:50836997..50839885,2	K562	blood:
2	chr7:50833742..50835575-chr7:50837710..50840000,2	K562	blood:
3	chr7:50835924..50838616-chr7:50888475..50890860,2	K562	blood:
4	chr7:50824568..50827324-chr7:50838039..50840736,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10227996	0.85[AMR][1000 genomes]
rs10243605	0.87[AMR][1000 genomes]
rs10261151	0.85[AMR][1000 genomes]
rs10267306	0.85[AMR][1000 genomes]
rs17152128	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28495293	0.87[AMR][1000 genomes]
rs56272038	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61145315	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61365130	0.87[AMR][1000 genomes]
rs720845	0.94[AFR][1000 genomes]
rs73697746	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50814400-50838800	Weak transcription	Adipose Nuclei	Adipose
2	chr7:50816200-50849600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:50820200-50843000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:50822000-50849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:50822800-50850200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr7:50823600-50849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:50823600-50849200	Weak transcription	Fetal Lung	lung
8	chr7:50824400-50843200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:50826000-50839000	Weak transcription	Ovary	ovary
10	chr7:50826600-50848400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:50829800-50838200	Weak transcription	Aorta	Aorta
12	chr7:50829800-50838800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:50829800-50849400	Weak transcription	Osteobl	bone
14	chr7:50830200-50846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:50830400-50848400	Weak transcription	Primary T cells from cord blood	blood
16	chr7:50833200-50850200	Weak transcription	HSMM	muscle
17	chr7:50833400-50848000	Weak transcription	Fetal Brain Female	brain
18	chr7:50833600-50838200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:50834400-50838200	Enhancers	Left Ventricle	heart
20	chr7:50834400-50838800	Weak transcription	HepG2	liver
21	chr7:50834400-50840200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr7:50834600-50839000	Weak transcription	Fetal Heart	heart
23	chr7:50834600-50839000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:50834600-50839000	Weak transcription	Stomach Mucosa	stomach
25	chr7:50834800-50838200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:50834800-50838400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:50834800-50839600	Enhancers	Lung	lung
28	chr7:50834800-50839600	Enhancers	Right Atrium	heart
29	chr7:50834800-50839800	Weak transcription	Brain Germinal Matrix	brain
30	chr7:50834800-50840000	Enhancers	Pancreas	Pancrea
31	chr7:50834800-50840000	Enhancers	Right Ventricle	heart
32	chr7:50834800-50840200	Enhancers	Liver	Liver
33	chr7:50834800-50840200	Enhancers	Psoas Muscle	Psoas
34	chr7:50835000-50838600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr7:50835000-50839600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr7:50835200-50838800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:50835200-50838800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:50835200-50847800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:50835200-50848200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:50835200-50849000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:50835400-50839000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:50835400-50843000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:50835400-50843000	Weak transcription	Esophagus	oesophagus
44	chr7:50835400-50846000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr7:50835400-50848200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:50835400-50849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:50835600-50838600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:50835600-50842400	Weak transcription	Hela-S3	cervix
49	chr7:50835600-50847600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:50835800-50841000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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