Variant report

Variant	rs1358954
Chromosome Location	chr6:76585168-76585169
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10806048	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10943292	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11970551	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12209903	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12526227	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12662659	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1322551	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1407510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535501	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2004170	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2181245	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2181246	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2273859	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2312940	0.84[ASN][1000 genomes]
rs2748959	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2748964	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2842538	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2842540	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2842542	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2842544	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2842546	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3798447	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3798448	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6934542	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs699186	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720862	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720863	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72890648	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9294005	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9443195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9447579	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1032961	chr6:76343575-76788852	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv932201	chr6:76365548-77219650	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1028340	chr6:76410921-76960225	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv538319	chr6:76410921-76960225	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76541000-76590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:76543000-76615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:76544400-76603800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:76552200-76592400	Weak transcription	HSMM	muscle
5	chr6:76552600-76592400	Weak transcription	Psoas Muscle	Psoas
6	chr6:76560000-76585800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:76562400-76599800	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:76563000-76585400	Weak transcription	NHDF-Ad	bronchial
9	chr6:76563400-76602800	Weak transcription	Small Intestine	intestine
10	chr6:76566200-76604600	Weak transcription	Right Ventricle	heart
11	chr6:76567000-76604400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:76567600-76598600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:76567600-76604200	Weak transcription	NHLF	lung
14	chr6:76571200-76592400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:76573000-76597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:76573000-76624000	Weak transcription	Placenta	Placenta
17	chr6:76573200-76604200	Weak transcription	Colonic Mucosa	Colon
18	chr6:76573400-76592800	Weak transcription	Stomach Mucosa	stomach
19	chr6:76573600-76606200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:76573800-76607200	Weak transcription	Gastric	stomach
21	chr6:76573800-76608400	Weak transcription	Esophagus	oesophagus
22	chr6:76574400-76632600	Weak transcription	Spleen	Spleen
23	chr6:76575600-76586400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:76576000-76604000	Weak transcription	Fetal Brain Female	brain
25	chr6:76577200-76585600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:76577200-76624600	Weak transcription	Fetal Kidney	kidney
27	chr6:76577400-76587800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:76577400-76591800	Weak transcription	NHEK	skin
29	chr6:76577400-76592000	Weak transcription	HMEC	breast
30	chr6:76577400-76594000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:76580000-76591600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:76580200-76586600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:76580600-76591800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:76580800-76585400	Strong transcription	Fetal Intestine Small	intestine
35	chr6:76581000-76594800	Strong transcription	Fetal Intestine Large	intestine
36	chr6:76582000-76593200	Weak transcription	Fetal Brain Male	brain
37	chr6:76582200-76586400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:76582400-76585200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr6:76582600-76586400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:76582800-76585800	Strong transcription	Adipose Nuclei	Adipose
41	chr6:76582800-76585800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr6:76582800-76586400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:76582800-76586400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:76583000-76585800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:76583000-76586000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:76583200-76586600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:76583200-76587600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:76583200-76589200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr6:76583400-76585800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:76583400-76585800	Strong transcription	Brain Substantia Nigra	brain

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