Variant report

Variant	rs28365214
Chromosome Location	chr12:40633064-40633065
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	chr12:40616874..40619503-chr12:40632557..40634590,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225342	Chromatin interaction
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17442297	1.00[JPT][hapmap]
rs17444695	1.00[JPT][hapmap]
rs17461337	1.00[JPT][hapmap]
rs17465751	1.00[JPT][hapmap]
rs17492194	1.00[JPT][hapmap]

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	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv1045408	chr12:40620554-40664424	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
4	nsv1042967	chr12:40629636-40710319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619400-40634600	Weak transcription	Spleen	Spleen
2	chr12:40619400-40644400	Weak transcription	Gastric	stomach
3	chr12:40619600-40636400	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:40619600-40661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
6	chr12:40619800-40658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:40620400-40644200	Weak transcription	Brain Angular Gyrus	brain
8	chr12:40620800-40634800	Weak transcription	Lung	lung
9	chr12:40620800-40634800	Weak transcription	Pancreas	Pancrea
10	chr12:40620800-40644200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:40620800-40648000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:40620800-40659200	Weak transcription	Brain Anterior Caudate	brain
13	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
14	chr12:40621000-40643800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:40621000-40659800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:40621000-40661200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:40622800-40661000	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
19	chr12:40629200-40633400	Strong transcription	Adipose Nuclei	Adipose
20	chr12:40629200-40635600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:40630600-40643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:40630600-40669400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:40631000-40633200	Enhancers	Hela-S3	cervix
25	chr12:40631200-40646600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:40631400-40633200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr12:40631600-40636200	Weak transcription	NHLF	lung
28	chr12:40632000-40655200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:40632000-40656000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:40632400-40633200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:40632400-40635200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:40632600-40635200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:40632600-40635400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:40632600-40635400	Weak transcription	A549	lung
35	chr12:40632600-40635800	Weak transcription	Osteobl	bone
36	chr12:40632800-40634200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr12:40632800-40634400	Strong transcription	Primary B cells from cord blood	blood
38	chr12:40632800-40635400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:40632800-40635600	Weak transcription	NHDF-Ad	bronchial
40	chr12:40633000-40633400	Strong transcription	Aorta	Aorta
41	chr12:40633000-40633400	Strong transcription	Ovary	ovary
42	chr12:40633000-40633600	Strong transcription	Liver	Liver
43	chr12:40633000-40634600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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