Variant report

Variant	rs2998388
Chromosome Location	chr6:76139316-76139317
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	chr6:76135895..76137994-chr6:76139149..76140742,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10806040	1.00[EUR][1000 genomes]
rs11965620	1.00[AMR][1000 genomes]
rs12332878	1.00[AFR][1000 genomes]
rs1336042	1.00[EUR][1000 genomes]
rs171265	1.00[AMR][1000 genomes]
rs240371	1.00[AMR][1000 genomes]
rs2491321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2703699	1.00[EUR][1000 genomes]
rs2703701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2703705	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2703706	1.00[EUR][1000 genomes]
rs2703712	1.00[AMR][1000 genomes]
rs2808184	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2808185	1.00[EUR][1000 genomes]
rs2951914	1.00[EUR][1000 genomes]
rs2951915	1.00[EUR][1000 genomes]
rs2951923	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2951927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2998377	1.00[AMR][1000 genomes]
rs2998386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9343291	1.00[EUR][1000 genomes]
rs9447480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs945481	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	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76129400-76139400	Weak transcription	Adipose Nuclei	Adipose
2	chr6:76133400-76141200	Weak transcription	Lung	lung
3	chr6:76133800-76142200	Enhancers	Fetal Heart	heart
4	chr6:76134800-76141000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:76135200-76139600	Enhancers	A549	lung
6	chr6:76135400-76140400	Weak transcription	NHLF	lung
7	chr6:76135400-76140600	Weak transcription	NHDF-Ad	bronchial
8	chr6:76136600-76141600	Enhancers	Fetal Muscle Leg	muscle
9	chr6:76137600-76141200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:76137800-76141600	Enhancers	Right Ventricle	heart
11	chr6:76138000-76140800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:76138200-76140800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:76138400-76140600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:76138600-76139400	Enhancers	Fetal Lung	lung
15	chr6:76138600-76139800	Enhancers	Aorta	Aorta
16	chr6:76138600-76139800	Enhancers	Rectal Smooth Muscle	rectum
17	chr6:76138600-76142000	Enhancers	Colon Smooth Muscle	Colon
18	chr6:76138600-76142200	Enhancers	Ovary	ovary
19	chr6:76138800-76139400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:76138800-76139800	Enhancers	HSMMtube	muscle
21	chr6:76138800-76140600	Enhancers	Psoas Muscle	Psoas
22	chr6:76139000-76139400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:76139000-76139400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:76139000-76139400	Enhancers	Fetal Stomach	stomach
25	chr6:76139000-76139400	ZNF genes & repeats	Pancreas	Pancrea
26	chr6:76139000-76139400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr6:76139000-76139400	Enhancers	Hela-S3	cervix
28	chr6:76139000-76139400	Enhancers	HUVEC	blood vessel
29	chr6:76139000-76139800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr6:76139000-76139800	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr6:76139000-76141600	Enhancers	Left Ventricle	heart
32	chr6:76139000-76141600	Enhancers	Right Atrium	heart
33	chr6:76139200-76139400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:76139200-76139400	Enhancers	Fetal Muscle Trunk	muscle
35	chr6:76139200-76139400	ZNF genes & repeats	GM12878-XiMat	blood
36	chr6:76139200-76140400	Weak transcription	HSMM	muscle
37	chr6:76139200-76140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:76139200-76140800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr6:76139200-76141200	Weak transcription	Osteobl	bone
40	chr6:76139200-76150200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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