Variant report

Variant	rs74110015
Chromosome Location	chr12:76242305-76242306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76242079..76243789-chr12:76420036..76421626,2	MCF-7	breast:
2	chr12:76234777..76238439-chr12:76239479..76242748,4	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11832325	0.88[AFR][1000 genomes]
rs17115815	0.94[AFR][1000 genomes]
rs34133638	1.00[AFR][1000 genomes]
rs74110016	0.82[AFR][1000 genomes]
rs74110017	0.82[AFR][1000 genomes]
rs74110018	0.94[AFR][1000 genomes]
rs74110020	1.00[AFR][1000 genomes]
rs74110022	0.94[AFR][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	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	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
3	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
4	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76235600-76242600	Weak transcription	Left Ventricle	heart
3	chr12:76239600-76244600	Weak transcription	HepG2	liver
4	chr12:76239800-76242400	Weak transcription	Fetal Brain Female	brain
5	chr12:76240400-76247400	Weak transcription	Aorta	Aorta
6	chr12:76240800-76244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:76241000-76242800	Enhancers	Fetal Lung	lung
8	chr12:76241200-76243800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:76241200-76244000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:76241400-76243200	Enhancers	HUVEC	blood vessel
11	chr12:76241400-76243600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:76241400-76243800	Enhancers	Fetal Stomach	stomach
13	chr12:76241400-76244000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:76241600-76242400	Enhancers	Brain Substantia Nigra	brain
15	chr12:76241600-76242800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:76241600-76242800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:76241600-76243600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:76241600-76243600	Enhancers	Ovary	ovary
19	chr12:76241600-76243800	Enhancers	Fetal Muscle Leg	muscle
20	chr12:76241600-76246000	Enhancers	Brain Germinal Matrix	brain
21	chr12:76241600-76248800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:76241600-76251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:76241800-76242600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:76241800-76243800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:76242000-76242400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:76242000-76243200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:76242000-76243200	Enhancers	Brain Anterior Caudate	brain
28	chr12:76242000-76243200	Enhancers	Brain Cingulate Gyrus	brain
29	chr12:76242000-76243200	Enhancers	Right Ventricle	heart
30	chr12:76242000-76243400	Enhancers	Brain Angular Gyrus	brain
31	chr12:76242000-76243400	Enhancers	Fetal Kidney	kidney
32	chr12:76242000-76243600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:76242000-76243600	Enhancers	HMEC	breast
34	chr12:76242000-76244000	Enhancers	Colon Smooth Muscle	Colon
35	chr12:76242000-76245400	Enhancers	NHLF	lung
36	chr12:76242000-76246600	Enhancers	Osteobl	bone
37	chr12:76242000-76247600	Enhancers	NHDF-Ad	bronchial
38	chr12:76242000-76249000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:76242200-76242400	Enhancers	Brain Hippocampus Middle	brain
40	chr12:76242200-76242400	Enhancers	Fetal Brain Male	brain
41	chr12:76242200-76242400	Flanking Active TSS	HSMMtube	muscle
42	chr12:76242200-76242600	Enhancers	Adipose Nuclei	Adipose
43	chr12:76242200-76243200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr12:76242200-76243600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:76242200-76245200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:76242200-76245800	Enhancers	NHEK	skin
47	chr12:76242200-76247800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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