Variant report

Variant	rs541241514
Chromosome Location	chr12:119443017-119443018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1046251	chr12:119353064-119467301	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv541615	chr12:119353064-119467301	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv275551	chr12:119441638-119443713	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119437200-119444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:119440600-119443800	Enhancers	Brain Germinal Matrix	brain
3	chr12:119440600-119444800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:119440800-119446800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:119440800-119448000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:119441000-119443200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:119441000-119445200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:119441000-119446800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:119442000-119444200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:119442200-119443200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:119442400-119444600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:119442400-119444800	Enhancers	Fetal Brain Female	brain
13	chr12:119442400-119446400	Enhancers	Fetal Muscle Leg	muscle
14	chr12:119442600-119444200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:119442600-119444600	Enhancers	Fetal Stomach	stomach
16	chr12:119442800-119444000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:119442800-119444200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:119442800-119444600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:119443000-119443400	Weak transcription	Fetal Lung	lung
20	chr12:119443000-119444400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr12:119443000-119444400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:119443000-119445600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:119443000-119447600	Enhancers	Fetal Brain Male	brain

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