Variant report

Variant	rs1275555
Chromosome Location	chr12:76208361-76208362
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76200493..76203105-chr12:76205900..76208947,3	MCF-7	breast:
2	chr12:76207915..76215391-chr12:76415099..76426528,21	MCF-7	breast:
3	chr12:76207003..76208716-chr12:76429689..76432677,2	MCF-7	breast:
4	chr12:76206336..76208559-chr12:76208892..76210700,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257453	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000257839	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10748289	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10748290	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10879987	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11180696	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11180697	0.96[ASN][1000 genomes]
rs11611462	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1298362	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1389484	0.89[EUR][1000 genomes]
rs1950103	0.84[EUR][1000 genomes]
rs2367301	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56251385	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76203000-76210400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:76203400-76208800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:76203600-76212600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:76203800-76208600	Weak transcription	Fetal Heart	heart
5	chr12:76205600-76208800	Weak transcription	Stomach Mucosa	stomach
6	chr12:76205800-76210000	Enhancers	Fetal Muscle Leg	muscle
7	chr12:76206000-76210000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:76206400-76208600	Enhancers	NHLF	lung
9	chr12:76206400-76209600	Enhancers	Stomach Smooth Muscle	stomach
10	chr12:76206400-76210200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:76206600-76208600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:76206600-76209000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:76206600-76209000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:76206600-76214400	Enhancers	NHDF-Ad	bronchial
15	chr12:76206600-76214600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:76206800-76208400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:76206800-76208400	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:76206800-76208600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:76206800-76208600	Weak transcription	Aorta	Aorta
20	chr12:76206800-76208600	Weak transcription	NH-A	brain
21	chr12:76206800-76208600	Weak transcription	Osteobl	bone
22	chr12:76206800-76208800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:76206800-76208800	Weak transcription	Fetal Lung	lung
24	chr12:76206800-76209000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:76206800-76209600	Enhancers	Fetal Brain Female	brain
26	chr12:76206800-76210800	Weak transcription	Brain Anterior Caudate	brain
27	chr12:76206800-76213600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:76206800-76214400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:76207000-76208600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:76207000-76208800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:76207000-76208800	Weak transcription	Adipose Nuclei	Adipose
32	chr12:76207200-76208400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:76207200-76209000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:76207200-76214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr12:76207400-76208600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:76207400-76208600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:76207400-76209200	Weak transcription	GM12878-XiMat	blood
38	chr12:76207600-76208600	Weak transcription	HepG2	liver
39	chr12:76207600-76213200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:76208000-76208400	Weak transcription	Fetal Brain Male	brain
41	chr12:76208000-76209600	Enhancers	NHEK	skin
42	chr12:76208000-76210000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:76208200-76208800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:76208200-76208800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:76208200-76209000	Enhancers	Fetal Muscle Trunk	muscle
46	chr12:76208200-76209000	Enhancers	Spleen	Spleen
47	chr12:76208200-76209200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:76208200-76209400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr12:76208200-76210000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:76208200-76210000	Enhancers	Fetal Stomach	stomach

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