Variant report

Variant	rs12300384
Chromosome Location	chr12:29370397-29370398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29367955..29370730-chr12:29384068..29386132,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11050133	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050134	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11050137	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307237	0.98[AFR][1000 genomes]
rs12307346	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960834	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29360400-29381000	Weak transcription	HUVEC	blood vessel
2	chr12:29363800-29377800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:29365600-29378600	Weak transcription	Small Intestine	intestine
4	chr12:29366000-29373800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:29366200-29393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:29366400-29373800	Weak transcription	Fetal Intestine Large	intestine
7	chr12:29366600-29373800	Weak transcription	Fetal Intestine Small	intestine
8	chr12:29366800-29373600	Weak transcription	Placenta	Placenta
9	chr12:29368800-29370600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr12:29368800-29370800	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:29368800-29370800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:29368800-29371000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:29368800-29371400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:29369000-29370400	Enhancers	Dnd41	blood
15	chr12:29369200-29370800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:29369400-29370600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:29369400-29370600	Enhancers	NHDF-Ad	bronchial
18	chr12:29369600-29370800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:29369800-29370400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:29369800-29370600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:29369800-29370600	Enhancers	Adipose Nuclei	Adipose
22	chr12:29370000-29370400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:29370000-29370400	Active TSS	Osteobl	bone
24	chr12:29370000-29370600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr12:29370200-29370400	Enhancers	HSMMtube	muscle
26	chr12:29370200-29370600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr12:29370200-29370600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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