Variant report

Variant	rs12321196
Chromosome Location	chr12:47060213-47060214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46775656..46778112-chr12:47058863..47060598,2	K562	blood:
2	chr12:46884995..46887012-chr12:47057652..47060520,3	MCF-7	breast:
3	chr12:46759450..46767729-chr12:47050364..47062392,28	MCF-7	breast:
4	chr12:46902819..46905512-chr12:47057420..47060601,3	MCF-7	breast:
5	chr12:46760654..46769647-chr12:47051646..47061944,32	MCF-7	breast:
6	chr12:47058195..47060784-chr12:47071093..47073736,2	MCF-7	breast:
7	chr12:46775360..46780494-chr12:47054865..47060216,9	MCF-7	breast:
8	chr12:46901974..46903711-chr12:47058185..47060406,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000257261	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12302200	0.86[AFR][1000 genomes]
rs12309214	0.86[AFR][1000 genomes]
rs12311518	0.86[AFR][1000 genomes]
rs17097126	0.86[AFR][1000 genomes]
rs57897570	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47046400-47069800	Weak transcription	Pancreas	Pancrea
2	chr12:47053400-47062400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:47054000-47068400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:47054000-47071400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:47056000-47069000	Weak transcription	Esophagus	oesophagus
6	chr12:47059000-47065600	Weak transcription	Primary B cells from cord blood	blood
7	chr12:47059200-47061800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:47059400-47061600	Enhancers	NHEK	skin
9	chr12:47059400-47062400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:47059600-47061200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:47059600-47061200	Weak transcription	NH-A	brain
12	chr12:47059600-47061400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:47059600-47061400	Weak transcription	HSMM	muscle
14	chr12:47059600-47062000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:47059600-47063600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:47059600-47069200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:47059600-47069800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:47059600-47076800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:47059800-47061200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:47059800-47061200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:47059800-47061200	Weak transcription	NHDF-Ad	bronchial
22	chr12:47059800-47061400	Weak transcription	Osteobl	bone
23	chr12:47059800-47064800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:47059800-47068800	Weak transcription	NHLF	lung
25	chr12:47059800-47076600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:47060000-47061000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:47060000-47061000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:47060000-47061600	Weak transcription	Hela-S3	cervix
29	chr12:47060000-47064200	Weak transcription	Psoas Muscle	Psoas
30	chr12:47060000-47068000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:47060000-47068000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:47060200-47060600	Weak transcription	HUVEC	blood vessel
33	chr12:47060200-47061400	Weak transcription	HMEC	breast
34	chr12:47060200-47061800	Weak transcription	HepG2	liver
35	chr12:47060200-47063800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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