Variant report

Variant	rs7133431
Chromosome Location	chr12:67927777-67927778
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67920467..67922517-chr12:67927709..67929345,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYRK2-11	chr12:67927437-67928538	expReg_chr12_7302_+

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

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

rs_ID	r²[population]
rs7970512	1.00[ASN][1000 genomes]
rs7980090	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040339	chr12:67925018-67963239	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv18944	chr12:67927318-67928138	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv559213	chr12:67927341-67928096	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv52972	chr12:67927350-67928121	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv559214	chr12:67927393-67927990	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv559215	chr12:67927393-67928045	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv559216	chr12:67927393-67928096	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv559217	chr12:67927393-67928224	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv559218	chr12:67927527-67928096	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67919200-67928600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:67919200-67933000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:67920200-67928400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:67920600-67928400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:67920600-67928600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:67920600-67928600	Weak transcription	Psoas Muscle	Psoas
7	chr12:67921600-67928400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:67921800-67928600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:67921800-67928600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:67922000-67928600	Weak transcription	Esophagus	oesophagus
11	chr12:67924200-67928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:67925200-67934800	Weak transcription	Gastric	stomach
13	chr12:67925600-67927800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:67925600-67927800	Weak transcription	Osteobl	bone
15	chr12:67925600-67928600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:67926800-67927800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:67927000-67928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:67927000-67928400	Enhancers	NHEK	skin
19	chr12:67927000-67928600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:67927000-67929000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:67927000-67929400	Enhancers	NHDF-Ad	bronchial
22	chr12:67927000-67929600	Enhancers	HSMM	muscle
23	chr12:67927200-67929600	Enhancers	HMEC	breast
24	chr12:67927400-67929000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:67927400-67929600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:67927600-67928000	Enhancers	NH-A	brain
27	chr12:67927600-67929000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:67927600-67929200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:67927600-67929200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:67927600-67929200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:67927600-67929200	Enhancers	HSMMtube	muscle
32	chr12:67927600-67929400	Enhancers	Ovary	ovary
33	chr12:67927600-67929600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr12:67927600-67930400	Enhancers	Fetal Intestine Large	intestine

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