Variant report

Variant	rs6999317
Chromosome Location	chr8:118805089-118805090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10096234	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10103321	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10808486	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10808487	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10955830	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12542388	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1828151	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36123499	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4418376	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4419839	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4514007	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4582595	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4606089	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4618730	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876386	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876742	0.87[EUR][1000 genomes]
rs4876751	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4876754	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6469708	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6983422	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6988915	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6988932	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7008243	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7465381	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7821165	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7823474	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7830962	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7837621	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv933429	chr8:118798533-118812170	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118751400-118805400	Weak transcription	NHLF	lung
2	chr8:118787200-118805400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:118795800-118805600	Weak transcription	Liver	Liver
4	chr8:118799600-118805800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:118799600-118806400	Weak transcription	HSMMtube	muscle
6	chr8:118799600-118809000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:118800000-118805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:118800000-118806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:118800000-118816400	Weak transcription	Brain Angular Gyrus	brain
10	chr8:118800200-118815800	Weak transcription	Esophagus	oesophagus
11	chr8:118800600-118805800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:118800600-118822800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:118801000-118843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:118801200-118806200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:118801400-118805200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr8:118801400-118808200	Strong transcription	Osteobl	bone
17	chr8:118801400-118811000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:118801600-118805800	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:118801600-118809200	Weak transcription	Adipose Nuclei	Adipose
20	chr8:118801600-118809200	Weak transcription	Fetal Brain Male	brain
21	chr8:118801600-118809600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:118801600-118809600	Weak transcription	Gastric	stomach
23	chr8:118801600-118810000	Weak transcription	Ovary	ovary
24	chr8:118801800-118805200	Weak transcription	NHEK	skin
25	chr8:118801800-118805400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:118801800-118805400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:118801800-118806400	Weak transcription	Aorta	Aorta
28	chr8:118802000-118805400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:118802200-118821200	Strong transcription	NHDF-Ad	bronchial
30	chr8:118802400-118820400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:118802800-118806200	Weak transcription	Fetal Lung	lung
32	chr8:118803000-118805400	Weak transcription	Fetal Stomach	stomach
33	chr8:118803000-118805800	Weak transcription	Primary T cells from cord blood	blood
34	chr8:118803000-118805800	Weak transcription	Fetal Intestine Large	intestine
35	chr8:118803000-118808400	Weak transcription	HMEC	breast
36	chr8:118803200-118805400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:118803200-118806200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:118803400-118805200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:118803600-118805400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr8:118803600-118811600	Weak transcription	Fetal Intestine Small	intestine
41	chr8:118804000-118805600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:118804000-118809200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:118804200-118805800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr8:118804200-118809400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:118804200-118810000	Weak transcription	Lung	lung
46	chr8:118804200-118813600	Strong transcription	NH-A	brain
47	chr8:118804200-118836000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:118804200-118838000	Strong transcription	HSMM	muscle
49	chr8:118804400-118806200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:118804400-118816400	Weak transcription	Spleen	Spleen

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