Variant report

Variant	rs2876300
Chromosome Location	chr6:12894103-12894104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:46803406..46803985-chr6:12893909..12894694,2	MCF-7	breast:
2	chr6:12637973..12638929-chr6:12893724..12895010,9	MCF-7	breast:
3	chr6:12606093..12606619-chr6:12893847..12894513,2	MCF-7	breast:
4	chr6:12637589..12639398-chr6:12893710..12895346,24	MCF-7	breast:
5	chr6:12605717..12606371-chr6:12893802..12894751,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13208248	0.88[EUR][1000 genomes]
rs13219256	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332845	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332846	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1332847	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537340	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34944538	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35355695	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714951	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714955	0.80[EUR][1000 genomes]
rs62389954	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62389955	0.80[EUR][1000 genomes]
rs71562459	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830587	chr6:12769661-12939875	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12885600-12908800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:12893000-12894200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:12893200-12894200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:12893200-12894600	Enhancers	Fetal Stomach	stomach
5	chr6:12893400-12894200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:12893400-12894200	Enhancers	HSMMtube	muscle
7	chr6:12893400-12894400	Enhancers	Brain Hippocampus Middle	brain
8	chr6:12893400-12894600	Enhancers	Fetal Muscle Leg	muscle
9	chr6:12893600-12894200	Enhancers	Fetal Brain Male	brain
10	chr6:12893600-12894600	Enhancers	Fetal Heart	heart
11	chr6:12893600-12895800	Weak transcription	Osteobl	bone
12	chr6:12893800-12894200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:12893800-12894200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr6:12893800-12894200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:12893800-12894200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:12893800-12894200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:12893800-12894200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:12893800-12894200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:12893800-12894200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:12893800-12894200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr6:12893800-12894200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:12893800-12894200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:12893800-12894200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr6:12893800-12894200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr6:12893800-12894200	Enhancers	Left Ventricle	heart
26	chr6:12893800-12894200	Enhancers	Psoas Muscle	Psoas
27	chr6:12893800-12894200	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr6:12893800-12894200	Enhancers	HSMM	muscle
29	chr6:12893800-12894400	Enhancers	Colon Smooth Muscle	Colon
30	chr6:12893800-12894600	Enhancers	Brain Anterior Caudate	brain
31	chr6:12893800-12896600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:12894000-12894200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:12894000-12894200	Enhancers	Primary hematopoietic stem cells	blood
34	chr6:12894000-12894200	Enhancers	Adipose Nuclei	Adipose
35	chr6:12894000-12894200	Enhancers	Aorta	Aorta
36	chr6:12894000-12894200	Enhancers	Brain Angular Gyrus	brain
37	chr6:12894000-12894200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:12894000-12894200	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr6:12894000-12894200	Enhancers	Fetal Lung	lung
40	chr6:12894000-12894200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr6:12894000-12894200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr6:12894000-12894200	Enhancers	GM12878-XiMat	blood
43	chr6:12894000-12894200	Enhancers	NH-A	brain
44	chr6:12894000-12894200	Enhancers	NHDF-Ad	bronchial
45	chr6:12894000-12894400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:12894000-12894400	Enhancers	Rectal Smooth Muscle	rectum
47	chr6:12894000-12894600	Enhancers	Fetal Kidney	kidney
48	chr6:12894000-12894600	Enhancers	Stomach Mucosa	stomach
49	chr6:12894000-12894600	Enhancers	A549	lung
50	chr6:12894000-12894800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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