Variant report

Variant	rs561777613
Chromosome Location	chr12:120032997-120032998
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	SIN3A	chr12:120032536-120033154	H1-hESC	embryonic stem cell:	n/a	chr12:120032982-120032995 chr12:120032752-120032765
2	SUZ12	chr12:120032792-120033414	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr12:120031201-120033277	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:120032501-120034200	U87	brain:	n/a	n/a
5	MAX	chr12:120032641-120033049	SK-N-SH	brain:	n/a	chr12:120032997-120033007
6	SUZ12	chr12:120030839-120033481	NT2-D1	testis:	n/a	n/a
7	POLR2A	chr12:120031120-120033303	U87	brain:	n/a	n/a
8	POLR2A	chr12:120032336-120034342	U87	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000248636	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv832529	chr12:119863378-120071646	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1052595	chr12:119992580-120132038	Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv541616	chr12:119992580-120132038	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3341838	chr12:120032856-120033074	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120030800-120034800	Active TSS	HSMM	muscle
2	chr12:120031000-120033200	Active TSS	HSMMtube	muscle
3	chr12:120031000-120033400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr12:120031000-120034400	Active TSS	Psoas Muscle	Psoas
5	chr12:120031200-120033200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:120031200-120033200	Bivalent/Poised TSS	Fetal Kidney	kidney
7	chr12:120031200-120033400	Active TSS	Muscle Satellite Cultured Cells	--
8	chr12:120031200-120033400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr12:120031200-120033600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr12:120031200-120034200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr12:120031400-120033000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
12	chr12:120031400-120033200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr12:120031400-120033200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:120031400-120033200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
15	chr12:120031400-120033200	Bivalent Enhancer	Fetal Brain Male	brain
16	chr12:120031400-120033200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
17	chr12:120031400-120033200	Active TSS	Ovary	ovary
18	chr12:120031400-120033600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr12:120031400-120034200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr12:120031400-120034600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr12:120031600-120033000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr12:120031600-120033000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
23	chr12:120031600-120033000	Active TSS	Gastric	stomach
24	chr12:120031600-120033200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
25	chr12:120031600-120033200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
26	chr12:120031600-120033200	Bivalent/Poised TSS	Right Ventricle	heart
27	chr12:120031600-120033400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:120031600-120033400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr12:120031600-120033400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
30	chr12:120031600-120033400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr12:120031600-120033400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
32	chr12:120031600-120033600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
33	chr12:120031800-120033200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
34	chr12:120031800-120033400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr12:120031800-120033400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:120031800-120033400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:120031800-120033400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
38	chr12:120031800-120033400	Bivalent/Poised TSS	Fetal Thymus	thymus
39	chr12:120031800-120033600	Bivalent/Poised TSS	NH-A	brain
40	chr12:120032000-120033000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
41	chr12:120032000-120033200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr12:120032000-120033200	Bivalent/Poised TSS	Fetal Stomach	stomach
43	chr12:120032000-120033600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr12:120032000-120034000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:120032200-120033200	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr12:120032200-120033400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:120032200-120033400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:120032200-120033400	Flanking Active TSS	Liver	Liver
49	chr12:120032200-120034200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:120032400-120033200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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