Variant report

Variant	rs9343291
Chromosome Location	chr6:76191398-76191399
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10806040	0.81[ASW][hapmap];0.96[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1336042	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2491321	1.00[EUR][1000 genomes]
rs2703699	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2703701	1.00[EUR][1000 genomes]
rs2703705	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2703706	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2808184	1.00[EUR][1000 genomes]
rs2808185	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2859762	1.00[TSI][hapmap]
rs2951914	1.00[EUR][1000 genomes]
rs2951915	1.00[EUR][1000 genomes]
rs2951923	1.00[EUR][1000 genomes]
rs2951927	1.00[EUR][1000 genomes]
rs2951931	1.00[TSI][hapmap]
rs2998386	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2998388	1.00[EUR][1000 genomes]
rs9447480	1.00[EUR][1000 genomes]
rs945481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
6	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
8	nsv886182	chr6:76096230-76194007	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
9	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
10	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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76183000-76200800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:76187400-76194200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr6:76187800-76196000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr6:76189400-76192400	Enhancers	Fetal Muscle Leg	muscle
5	chr6:76189400-76193000	Enhancers	HSMMtube	muscle
6	chr6:76189600-76201200	Weak transcription	Lung	lung
7	chr6:76189800-76192800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:76190000-76192400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:76190000-76192400	Enhancers	Fetal Lung	lung
10	chr6:76190000-76193000	Enhancers	Fetal Heart	heart
11	chr6:76190000-76193400	Enhancers	NHLF	lung
12	chr6:76190200-76192000	Enhancers	Stomach Smooth Muscle	stomach
13	chr6:76190200-76192200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:76190200-76192200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:76190200-76192200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:76190200-76192600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:76190200-76193200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:76190200-76193800	Enhancers	Colon Smooth Muscle	Colon
19	chr6:76190200-76195000	Enhancers	A549	lung
20	chr6:76190400-76191600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:76190400-76193200	Enhancers	Rectal Smooth Muscle	rectum
22	chr6:76190400-76193600	Enhancers	Adipose Nuclei	Adipose
23	chr6:76190600-76191600	Enhancers	Aorta	Aorta
24	chr6:76190600-76192000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:76190600-76192200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:76190600-76192200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:76190800-76191400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr6:76190800-76191600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr6:76190800-76191600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:76190800-76191600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:76190800-76191600	Enhancers	Left Ventricle	heart
32	chr6:76190800-76191600	Enhancers	Right Atrium	heart
33	chr6:76190800-76192000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr6:76190800-76192000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr6:76190800-76192000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:76190800-76192000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr6:76190800-76192000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr6:76190800-76192000	Enhancers	Psoas Muscle	Psoas
39	chr6:76190800-76192400	Enhancers	Right Ventricle	heart
40	chr6:76190800-76192600	Enhancers	HSMM	muscle
41	chr6:76191000-76191400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:76191000-76191400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:76191000-76191600	Flanking Active TSS	NHDF-Ad	bronchial
44	chr6:76191000-76192000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr6:76191000-76192200	Enhancers	Osteobl	bone
46	chr6:76191200-76192000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:76191200-76192000	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr6:76191200-76192000	Enhancers	GM12878-XiMat	blood
49	chr6:76191200-76194400	Enhancers	HUVEC	blood vessel

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