Variant report

Variant	rs61747547
Chromosome Location	chr12:12185842-12185843
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11801299..11805483-chr12:12183061..12186378,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139083	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11612107	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11615635	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12183600-12186000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12184800-12186000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:12184800-12186000	Flanking Active TSS	GM12878-XiMat	blood
4	chr12:12185000-12186000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:12185000-12186000	Enhancers	Esophagus	oesophagus
6	chr12:12185000-12186000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr12:12185200-12186000	Enhancers	HSMMtube	muscle
8	chr12:12185200-12186200	Enhancers	Spleen	Spleen
9	chr12:12185200-12186400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:12185200-12186400	Enhancers	Small Intestine	intestine
11	chr12:12185200-12186600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:12185400-12186000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:12185400-12186000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:12185400-12186000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:12185400-12186000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:12185400-12186000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:12185400-12186000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:12185400-12186000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr12:12185400-12186000	Enhancers	Fetal Heart	heart
20	chr12:12185400-12186000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr12:12185400-12186200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:12185400-12186400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:12185400-12186400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:12185400-12186400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:12185400-12186400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr12:12185400-12186400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:12185400-12186400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr12:12185400-12186600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:12185600-12186000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:12185600-12186000	Enhancers	Stomach Mucosa	stomach
31	chr12:12185600-12186000	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr12:12185600-12186200	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr12:12185600-12186400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr12:12185600-12186400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:12185600-12186400	Flanking Active TSS	Liver	Liver
36	chr12:12185600-12186400	Active TSS	Colon Smooth Muscle	Colon
37	chr12:12185600-12186400	Active TSS	Duodenum Mucosa	Duodenum
38	chr12:12185600-12186400	Flanking Active TSS	Fetal Thymus	thymus
39	chr12:12185600-12186400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr12:12185600-12186600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr12:12185600-12186600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:12185600-12186600	Active TSS	Rectal Smooth Muscle	rectum
43	chr12:12185800-12186000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:12185800-12186000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:12185800-12186000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:12185800-12186000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:12185800-12186000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:12185800-12186000	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr12:12185800-12186000	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr12:12185800-12186000	Flanking Active TSS	Colonic Mucosa	Colon

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