Variant report

Variant	rs12475263
Chromosome Location	chr2:85993077-85993078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85983926..85985440-chr2:85991630..85993543,2	K562	blood:
2	chr2:85914382..85917156-chr2:85991881..85994505,2	MCF-7	breast:
3	chr2:85989917..85993093-chr2:85993435..85996690,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10172569	0.92[ASN][1000 genomes]
rs1048084	0.85[ASN][1000 genomes]
rs12478164	0.81[ASN][1000 genomes]
rs13013824	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4832009	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4832195	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4832196	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62147467	0.89[ASN][1000 genomes]
rs7558427	0.81[AMR][1000 genomes];1.00[EUR][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	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1001792	chr2:85983107-86016722	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv535805	chr2:85983107-86016722	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv535806	chr2:85990408-86007918	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85985400-85995200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:85986000-85995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:85986400-85995600	Weak transcription	Brain Angular Gyrus	brain
4	chr2:85986600-85995000	Weak transcription	Esophagus	oesophagus
5	chr2:85987000-85998400	Genic enhancers	Muscle Satellite Cultured Cells	--
6	chr2:85988000-85996200	Enhancers	Hela-S3	cervix
7	chr2:85988400-85995000	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:85988600-86000000	Enhancers	Right Atrium	heart
9	chr2:85989400-85994800	Weak transcription	HSMMtube	muscle
10	chr2:85989600-85994200	Strong transcription	Gastric	stomach
11	chr2:85989800-85993400	Weak transcription	Psoas Muscle	Psoas
12	chr2:85989800-85995200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:85990000-85994800	Strong transcription	Aorta	Aorta
14	chr2:85990600-85994200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:85990600-85994800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr2:85990800-85994000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:85990800-85995600	Genic enhancers	Stomach Smooth Muscle	stomach
18	chr2:85990800-85995800	Enhancers	Fetal Heart	heart
19	chr2:85990800-85999800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr2:85991000-85993200	Strong transcription	NHLF	lung
21	chr2:85991000-85993400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:85991000-85993800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:85991000-85995400	Genic enhancers	Adipose Nuclei	Adipose
24	chr2:85991000-85997600	Genic enhancers	Lung	lung
25	chr2:85991000-85997800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:85991200-85993400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
27	chr2:85991200-85994400	Genic enhancers	Left Ventricle	heart
28	chr2:85991200-85994800	Strong transcription	Osteobl	bone
29	chr2:85991200-85995000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:85991200-85995000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:85991200-86000000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr2:85991400-85995000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:85991600-85993200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:85991600-85993200	Strong transcription	Brain Substantia Nigra	brain
35	chr2:85991600-85995000	Bivalent Enhancer	Fetal Stomach	stomach
36	chr2:85991800-85993200	Genic enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:85992000-85993400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr2:85992000-85993800	Enhancers	Right Ventricle	heart
39	chr2:85992000-85994000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:85992000-85994200	Enhancers	NH-A	brain
41	chr2:85992000-85994400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:85992200-85993200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
43	chr2:85992200-85993200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
44	chr2:85992200-85993400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr2:85992200-85993400	Enhancers	Brain Germinal Matrix	brain
46	chr2:85992200-85993400	Bivalent Enhancer	Fetal Brain Male	brain
47	chr2:85992200-85993800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr2:85992200-85993800	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:85992200-85994000	Strong transcription	Ovary	ovary
50	chr2:85992200-85995400	Weak transcription	Brain Cingulate Gyrus	brain

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