Variant report

Variant	rs55995000
Chromosome Location	chr12:33046205-33046206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32907053..32910667-chr12:33044491..33046664,3	MCF-7	breast:
2	chr12:33044433..33046332-chr12:33070929..33073660,2	MCF-7	breast:
3	chr12:32907371..32910549-chr12:33046094..33048353,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139131	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11615523	0.81[AMR][1000 genomes]
rs35389088	0.81[AMR][1000 genomes]
rs35991895	0.81[AMR][1000 genomes]
rs7302851	0.81[AMR][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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1035900	chr12:33010643-33079667	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541458	chr12:33010643-33079667	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33035000-33047400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:33039000-33047600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:33042800-33048400	Weak transcription	Pancreas	Pancrea
4	chr12:33044000-33047600	Enhancers	Fetal Intestine Small	intestine
5	chr12:33044000-33048200	Enhancers	Fetal Intestine Large	intestine
6	chr12:33044200-33047600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr12:33044400-33046800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:33044400-33047600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:33044600-33047000	Flanking Active TSS	NHEK	skin
10	chr12:33044600-33048200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:33044600-33048400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:33044600-33048400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:33044600-33048600	Active TSS	Left Ventricle	heart
14	chr12:33044600-33049200	Active TSS	Right Ventricle	heart
15	chr12:33044600-33050600	Active TSS	Right Atrium	heart
16	chr12:33044800-33047400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:33045000-33047600	Enhancers	Liver	Liver
18	chr12:33045000-33048400	Weak transcription	Brain Anterior Caudate	brain
19	chr12:33045200-33046600	Weak transcription	K562	blood
20	chr12:33045400-33046400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr12:33045400-33047000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:33045400-33051000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:33045600-33046800	Flanking Active TSS	HMEC	breast
24	chr12:33045600-33048400	Enhancers	A549	lung
25	chr12:33045800-33046800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr12:33045800-33046800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:33045800-33047600	Enhancers	Primary T cells from cord blood	blood
28	chr12:33046000-33046400	Weak transcription	Placenta	Placenta
29	chr12:33046000-33046400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr12:33046000-33046600	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr12:33046000-33046600	Active TSS	Rectal Smooth Muscle	rectum
32	chr12:33046000-33046600	Flanking Active TSS	Hela-S3	cervix
33	chr12:33046000-33046600	Flanking Active TSS	HepG2	liver
34	chr12:33046000-33046800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr12:33046000-33046800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:33046000-33046800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr12:33046000-33046800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr12:33046000-33046800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:33046000-33047000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr12:33046000-33047000	Bivalent Enhancer	Fetal Lung	lung
41	chr12:33046000-33047200	Active TSS	Fetal Heart	heart
42	chr12:33046000-33047200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:33046000-33047600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:33046000-33048400	Enhancers	Fetal Kidney	kidney
45	chr12:33046200-33046400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr12:33046200-33046400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:33046200-33046600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:33046200-33046600	Flanking Active TSS	Stomach Mucosa	stomach
49	chr12:33046200-33046800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr12:33046200-33047000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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