Variant report

Variant	rs7830350
Chromosome Location	chr8:48677981-48677982
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	chr8:48676909..48680225-chr8:48682804..48685612,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10092880	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10095193	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10097508	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10097783	0.88[ASN][1000 genomes]
rs10109158	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10958274	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1487438	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28485144	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28542855	0.85[AFR][1000 genomes]
rs28795698	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28809491	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3614	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4521758	0.92[ASN][1000 genomes]
rs4873728	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4873737	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58297550	0.83[AMR][1000 genomes]
rs6993483	0.87[ASN][1000 genomes]
rs6995756	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7014544	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7016660	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7017622	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72646383	0.87[AMR][1000 genomes]
rs72646396	0.85[EUR][1000 genomes]
rs72646401	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72647906	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7812323	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7813617	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7818445	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7828380	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7830633	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830743	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7831196	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7832898	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7838910	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7839161	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7839407	0.92[ASN][1000 genomes]
rs7841661	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8178079	0.85[ASN][1000 genomes]
rs8178238	0.85[EUR][1000 genomes]
rs8178255	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8178258	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9918758	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	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:74 , 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	chr8:48674800-48684400	Weak transcription	Dnd41	blood
3	chr8:48674800-48686200	Weak transcription	Brain Substantia Nigra	brain
4	chr8:48674800-48686400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:48675000-48686600	Weak transcription	HSMMtube	muscle
6	chr8:48675200-48678200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:48675200-48684200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr8:48675200-48686600	Weak transcription	Brain Angular Gyrus	brain
9	chr8:48675800-48679600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:48675800-48686800	Weak transcription	NHEK	skin
11	chr8:48676000-48684600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:48676000-48685200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:48676000-48686000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:48676000-48686400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:48676200-48679200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:48676200-48679400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:48676200-48684200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:48676200-48684600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:48676200-48684600	Weak transcription	HUVEC	blood vessel
20	chr8:48676200-48685400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr8:48676200-48685400	Weak transcription	Adipose Nuclei	Adipose
22	chr8:48676200-48685400	Weak transcription	Ovary	ovary
23	chr8:48676200-48686200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:48676200-48686200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr8:48676400-48678400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr8:48676400-48679200	Enhancers	HepG2	liver
27	chr8:48676400-48685000	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:48676400-48686600	Weak transcription	Thymus	Thymus
29	chr8:48676400-48687000	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:48676600-48678000	ZNF genes & repeats	Fetal Stomach	stomach
31	chr8:48676600-48679400	Weak transcription	Osteobl	bone
32	chr8:48676600-48679800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr8:48676600-48685400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:48676600-48686000	Weak transcription	Primary T cells from cord blood	blood
35	chr8:48676600-48686400	Weak transcription	Right Ventricle	heart
36	chr8:48676600-48686600	Weak transcription	NHDF-Ad	bronchial
37	chr8:48676600-48689000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:48676800-48678000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:48676800-48679000	ZNF genes & repeats	Placenta	Placenta
40	chr8:48676800-48684200	Weak transcription	HSMM	muscle
41	chr8:48676800-48684600	Weak transcription	A549	lung
42	chr8:48676800-48686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:48676800-48686400	Weak transcription	Fetal Kidney	kidney
44	chr8:48677000-48678400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:48677000-48684200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:48677000-48685600	Weak transcription	NHLF	lung
47	chr8:48677000-48686000	Weak transcription	Esophagus	oesophagus
48	chr8:48677000-48689000	Weak transcription	Pancreas	Pancrea
49	chr8:48677000-48689200	Weak transcription	Gastric	stomach
50	chr8:48677200-48678200	Enhancers	Lung	lung

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