Variant report

Variant	rs530315329
Chromosome Location	chr12:105837866-105837867
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:2986046..2986877-chr12:105837647..105838612,2	Hela-S3	cervix:
2	chr12:105837457..105842094-chr12:106531449..106535531,7	MCF-7	breast:
3	chr12:105837444..105839027-chr12:106252891..106255471,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APPL2-2	chr12:105837640-105837870	XLOC_010183

Variant related genes	Relation type
ENSG00000078246	Chromatin interaction
ENSG00000171792	Chromatin interaction
ENSG00000111206	Chromatin interaction
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv899501	chr12:105819046-105950801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1045689	chr12:105836970-105879110	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105828600-105838200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:105836600-105840600	Enhancers	HSMMtube	muscle
3	chr12:105836800-105840200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:105837000-105839600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:105837000-105840400	Enhancers	HSMM	muscle
6	chr12:105837200-105838000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:105837200-105840000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr12:105837400-105838600	Flanking Active TSS	Hela-S3	cervix
9	chr12:105837400-105838800	Flanking Active TSS	A549	lung
10	chr12:105837400-105839200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:105837400-105840400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:105837400-105840600	Enhancers	HUVEC	blood vessel
13	chr12:105837600-105838200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:105837600-105838200	Enhancers	Placenta	Placenta
15	chr12:105837600-105840000	Enhancers	Fetal Muscle Leg	muscle
16	chr12:105837600-105840400	Enhancers	NHEK	skin
17	chr12:105837800-105838200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:105837800-105838200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:105837800-105838200	Active TSS	Fetal Intestine Large	intestine
20	chr12:105837800-105838200	Enhancers	Fetal Muscle Trunk	muscle
21	chr12:105837800-105838800	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr12:105837800-105839200	Enhancers	NH-A	brain
23	chr12:105837800-105840200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:105837800-105840400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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