Variant report

Variant	rs35127263
Chromosome Location	chr12:65077918-65077919
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65004483..65006802-chr12:65074574..65078170,3	MCF-7	breast:
2	chr12:65001939..65003947-chr12:65074354..65078744,4	MCF-7	breast:
3	chr12:65073323..65075797-chr12:65077372..65079298,2	K562	blood:

Variant related genes	Relation type
ENSG00000256670	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12812333	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12815802	0.89[EUR][1000 genomes]
rs12820666	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12828259	0.89[EUR][1000 genomes]
rs35011112	0.86[EUR][1000 genomes]
rs35846274	0.87[EUR][1000 genomes]
rs55668439	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56136505	0.86[EUR][1000 genomes]
rs56206108	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61931658	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67264294	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9788201	0.89[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	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv899209	chr12:65068686-65184236	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases
8	nsv899210	chr12:65076498-65184236	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65064000-65078200	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:65066000-65078600	Enhancers	Spleen	Spleen
3	chr12:65068400-65087200	Weak transcription	Liver	Liver
4	chr12:65068600-65078000	Weak transcription	Dnd41	blood
5	chr12:65068600-65079400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:65070000-65085200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:65070000-65092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:65070800-65079600	Enhancers	Colon Smooth Muscle	Colon
9	chr12:65072200-65081600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:65072600-65078400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr12:65073200-65078400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:65073400-65078000	Enhancers	Fetal Stomach	stomach
13	chr12:65074000-65078000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:65074000-65079000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:65074000-65081600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:65074200-65078600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:65074200-65079000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:65074200-65079000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:65074200-65079000	Weak transcription	Colonic Mucosa	Colon
20	chr12:65074200-65081400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:65074400-65078400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:65074400-65081200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:65074400-65081200	Weak transcription	HSMM	muscle
24	chr12:65074800-65078200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:65074800-65078600	Genic enhancers	Monocytes-CD14+_RO01746	blood
26	chr12:65074800-65079200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr12:65075000-65078400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:65075000-65081200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:65075000-65081800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:65075000-65108400	Weak transcription	NH-A	brain
31	chr12:65075200-65078000	Enhancers	Fetal Lung	lung
32	chr12:65075200-65082000	Weak transcription	NHEK	skin
33	chr12:65075200-65082200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:65075200-65087400	Weak transcription	HMEC	breast
35	chr12:65075400-65080000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:65075400-65088600	Weak transcription	Esophagus	oesophagus
37	chr12:65075600-65081600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:65075800-65078000	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:65075800-65079000	Weak transcription	Placenta	Placenta
40	chr12:65075800-65079000	Weak transcription	Lung	lung
41	chr12:65075800-65081600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:65075800-65081600	Weak transcription	Right Atrium	heart
43	chr12:65076200-65079000	Weak transcription	Gastric	stomach
44	chr12:65076400-65078000	Enhancers	Adipose Nuclei	Adipose
45	chr12:65076400-65078200	Enhancers	Small Intestine	intestine
46	chr12:65076600-65078600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr12:65076600-65078600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:65076800-65078000	Enhancers	Primary B cells from cord blood	blood
49	chr12:65076800-65079000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:65076800-65080800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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