Variant report

Variant	rs142480053
Chromosome Location	chr12:67073410-67073411
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr12:67072044-67073741	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr12:67072165-67073480	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
GRIP1	TF binding region

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

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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv915982	chr12:67050863-67189954	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1047085	chr12:67052384-67199621	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1040203	chr12:67056831-67189837	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv541520	chr12:67056831-67189837	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3415151	chr12:67073293-67073513	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67071200-67074200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr12:67071800-67073600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:67072200-67073600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:67072200-67074000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:67072200-67074200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:67072400-67073600	Enhancers	Fetal Lung	lung
7	chr12:67072400-67073800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:67072400-67073800	Enhancers	Fetal Stomach	stomach
9	chr12:67072400-67074000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr12:67072400-67074000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:67072600-67073800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:67072600-67073800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:67072600-67073800	Flanking Active TSS	Fetal Brain Female	brain
14	chr12:67072600-67074000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:67072800-67073800	Enhancers	Ovary	ovary
16	chr12:67073000-67073800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr12:67073000-67073800	Active TSS	Right Atrium	heart
18	chr12:67073200-67073600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:67073200-67073600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:67073200-67073600	Enhancers	Rectal Smooth Muscle	rectum
21	chr12:67073200-67073800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:67073200-67073800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:67073200-67073800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr12:67073200-67073800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:67073200-67074000	Active TSS	Brain Germinal Matrix	brain
26	chr12:67073200-67074800	Enhancers	Fetal Brain Male	brain
27	chr12:67073200-67075000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:67073200-67075400	Weak transcription	Fetal Kidney	kidney
29	chr12:67073400-67073600	Enhancers	Brain Angular Gyrus	brain
30	chr12:67073400-67073800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:67073400-67074000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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