Variant report

Variant	rs1298362
Chromosome Location	chr12:76207441-76207442
allele	C/T
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	chr12:76207003..76208716-chr12:76429689..76432677,2	MCF-7	breast:
3	chr12:76206336..76208559-chr12:76208892..76210700,2	MCF-7	breast:
4	chr12:76205506..76207525-chr12:76423117..76425445,2	MCF-7	breast:
5	chr12:76204669..76207624-chr12:76235185..76236726,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257453	Chromatin interaction
ENSG00000139289	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10748289	0.93[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10748290	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10879987	0.92[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180696	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11180697	0.95[ASN][1000 genomes]
rs11611462	0.93[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1275555	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2367301	0.96[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56251385	0.87[EUR][1000 genomes];0.94[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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76202600-76208000	Enhancers	Fetal Brain Male	brain
2	chr12:76203000-76210400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:76203400-76208800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:76203600-76212600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:76203800-76208000	Weak transcription	NHEK	skin
6	chr12:76203800-76208200	Weak transcription	HMEC	breast
7	chr12:76203800-76208600	Weak transcription	Fetal Heart	heart
8	chr12:76205600-76208800	Weak transcription	Stomach Mucosa	stomach
9	chr12:76205800-76210000	Enhancers	Fetal Muscle Leg	muscle
10	chr12:76206000-76207600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:76206000-76210000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:76206400-76207600	Enhancers	HepG2	liver
13	chr12:76206400-76208600	Enhancers	NHLF	lung
14	chr12:76206400-76209600	Enhancers	Stomach Smooth Muscle	stomach
15	chr12:76206400-76210200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:76206600-76207600	Enhancers	Brain Germinal Matrix	brain
17	chr12:76206600-76208000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:76206600-76208600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:76206600-76209000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:76206600-76209000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:76206600-76214400	Enhancers	NHDF-Ad	bronchial
22	chr12:76206600-76214600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:76206800-76208200	Weak transcription	Fetal Stomach	stomach
24	chr12:76206800-76208200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:76206800-76208400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:76206800-76208400	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:76206800-76208600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:76206800-76208600	Weak transcription	Aorta	Aorta
29	chr12:76206800-76208600	Weak transcription	NH-A	brain
30	chr12:76206800-76208600	Weak transcription	Osteobl	bone
31	chr12:76206800-76208800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:76206800-76208800	Weak transcription	Fetal Lung	lung
33	chr12:76206800-76209000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:76206800-76209600	Enhancers	Fetal Brain Female	brain
35	chr12:76206800-76210800	Weak transcription	Brain Anterior Caudate	brain
36	chr12:76206800-76213600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:76206800-76214400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:76207000-76208200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:76207000-76208600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:76207000-76208800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:76207000-76208800	Weak transcription	Adipose Nuclei	Adipose
42	chr12:76207200-76207600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
43	chr12:76207200-76208400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr12:76207200-76209000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:76207200-76214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:76207400-76208600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr12:76207400-76208600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:76207400-76209200	Weak transcription	GM12878-XiMat	blood

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