Variant report

Variant	rs73677550
Chromosome Location	chr8:48677646-48677647
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48676909..48680225-chr8:48682804..48685612,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10086266	0.80[AFR][1000 genomes]
rs10093950	0.85[AFR][1000 genomes]
rs10099656	0.85[AFR][1000 genomes]
rs10102782	0.85[AFR][1000 genomes]
rs10104074	0.89[AFR][1000 genomes]
rs10106803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10108990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111963	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11987727	0.85[AFR][1000 genomes]
rs11997023	0.98[AFR][1000 genomes]
rs28366397	0.85[AFR][1000 genomes]
rs28407704	0.82[AFR][1000 genomes]
rs28439682	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28583978	0.96[AFR][1000 genomes]
rs28603312	0.98[AFR][1000 genomes]
rs28683713	0.96[AFR][1000 genomes]
rs28701667	0.83[AFR][1000 genomes]
rs28812773	0.83[AFR][1000 genomes]
rs28895958	0.91[AFR][1000 genomes]
rs34142661	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6473874	0.87[AFR][1000 genomes]
rs6980675	0.98[AFR][1000 genomes]
rs6982040	0.93[AFR][1000 genomes]
rs6982203	0.83[AFR][1000 genomes]
rs6992748	1.00[AMR][1000 genomes]
rs7003614	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7010172	1.00[AFR][1000 genomes]
rs7819424	0.87[AFR][1000 genomes]
rs7823419	0.85[AFR][1000 genomes]
rs7839604	0.83[AFR][1000 genomes]
rs8178117	0.87[AFR][1000 genomes]
rs8178176	0.85[AFR][1000 genomes]
rs8178185	0.87[AFR][1000 genomes]
rs8178240	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178253	0.98[AFR][1000 genomes];1.00[AMR][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	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1016915	chr8:48653136-48710849	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv539597	chr8:48653136-48710849	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3395290	chr8:48674299-48678697	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48674000-48684400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:48674800-48677800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:48674800-48684400	Weak transcription	Dnd41	blood
4	chr8:48674800-48686200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:48674800-48686400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:48675000-48686600	Weak transcription	HSMMtube	muscle
7	chr8:48675200-48678200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr8:48675200-48684200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:48675200-48686600	Weak transcription	Brain Angular Gyrus	brain
10	chr8:48675800-48679600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:48675800-48686800	Weak transcription	NHEK	skin
12	chr8:48676000-48684600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:48676000-48685200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:48676000-48686000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:48676000-48686400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:48676200-48679200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:48676200-48679400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:48676200-48684200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:48676200-48684600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr8:48676200-48684600	Weak transcription	HUVEC	blood vessel
21	chr8:48676200-48685400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:48676200-48685400	Weak transcription	Adipose Nuclei	Adipose
23	chr8:48676200-48685400	Weak transcription	Ovary	ovary
24	chr8:48676200-48686200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:48676200-48686200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:48676400-48678400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr8:48676400-48679200	Enhancers	HepG2	liver
28	chr8:48676400-48685000	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:48676400-48686600	Weak transcription	Thymus	Thymus
30	chr8:48676400-48687000	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:48676600-48678000	ZNF genes & repeats	Fetal Stomach	stomach
32	chr8:48676600-48679400	Weak transcription	Osteobl	bone
33	chr8:48676600-48679800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:48676600-48685400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:48676600-48686000	Weak transcription	Primary T cells from cord blood	blood
36	chr8:48676600-48686400	Weak transcription	Right Ventricle	heart
37	chr8:48676600-48686600	Weak transcription	NHDF-Ad	bronchial
38	chr8:48676600-48689000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:48676800-48678000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:48676800-48679000	ZNF genes & repeats	Placenta	Placenta
41	chr8:48676800-48684200	Weak transcription	HSMM	muscle
42	chr8:48676800-48684600	Weak transcription	A549	lung
43	chr8:48676800-48686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:48676800-48686400	Weak transcription	Fetal Kidney	kidney
45	chr8:48677000-48678400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:48677000-48684200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:48677000-48685600	Weak transcription	NHLF	lung
48	chr8:48677000-48686000	Weak transcription	Esophagus	oesophagus
49	chr8:48677000-48689000	Weak transcription	Pancreas	Pancrea
50	chr8:48677000-48689200	Weak transcription	Gastric	stomach

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