Variant report

Variant	rs565843363
Chromosome Location	chr12:26110787-26110788
allele	C/T
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	SMC3	chr12:26110022-26114054	SK-N-SH	brain:	n/a	chr12:26111781-26111791
2	FOS	chr12:26110780-26111197	MCF10A-Er-Src	breast:	n/a	chr12:26110884-26110893 chr12:26110941-26110952
3	POLR2A	chr12:26110747-26111817	U87	brain:	n/a	n/a
4	PBX3	chr12:26110721-26111508	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr12:26110041-26114263	SK-N-SH	brain:	n/a	chr12:26111781-26111791
6	CHD2	chr12:26110731-26113022	Hela-S3	cervix:	n/a	chr12:26111241-26111251
7	GATA3	chr12:26110587-26111322	SK-N-SH	brain:	n/a	chr12:26110670-26110679
8	TCF12	chr12:26110510-26111710	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr12:26110664-26112424	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr12:26110425-26111443	U87	brain:	n/a	n/a
11	POLR2A	chr12:26110543-26112977	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr12:26110670-26111527	SK-N-SH	brain:	n/a	n/a
13	MXI1	chr12:26110512-26114891	SK-N-SH	brain:	n/a	n/a
14	FOS	chr12:26110722-26111235	HUVEC	blood vessel:	n/a	chr12:26110884-26110893 chr12:26110941-26110952
15	MAZ	chr12:26110601-26113503	IMR90	lung:	n/a	chr12:26112239-26112249 chr12:26110615-26110625 chr12:26112912-26112920
16	FOSL2	chr12:26110657-26111329	SK-N-SH	brain:	n/a	chr12:26110884-26110893
17	GATA2	chr12:26110546-26111227	HUVEC	blood vessel:	n/a	chr12:26110670-26110679
18	RCOR1	chr12:26110787-26111541	Hela-S3	cervix:	n/a	n/a
19	FOS	chr12:26110765-26111167	MCF10A-Er-Src	breast:	n/a	chr12:26110884-26110893 chr12:26110941-26110952
20	POLR2A	chr12:26110095-26114059	IMR90	lung:	n/a	n/a
21	EP300	chr12:26110547-26112446	SK-N-SH	brain:	n/a	chr12:26110571-26110585 chr12:26111523-26111539 chr12:26111625-26111641
22	POLR2A	chr12:26110750-26112997	Hela-S3	cervix:	n/a	n/a
23	RAD21	chr12:26110740-26111603	SK-N-SH_RA	brain:	n/a	n/a
24	RXRA	chr12:26110785-26111686	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr12:26110777-26111764	PFSK-1	brain:	n/a	n/a
26	E2F6	chr12:26110764-26111581	H1-hESC	embryonic stem cell:	n/a	chr12:26111073-26111082
27	POLR2A	chr12:26110355-26111489	U87	brain:	n/a	n/a
28	CHD1	chr12:26110394-26114412	IMR90	lung:	n/a	chr12:26111241-26111251
29	POLR2A	chr12:26110767-26113448	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr12:26110626-26112427	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr12:26110174-26113244	MCF10A-Er-Src	breast:	n/a	n/a
32	MXI1	chr12:26110752-26111464	Hela-S3	cervix:	n/a	n/a
33	SIN3A	chr12:26110770-26113401	H1-hESC	embryonic stem cell:	n/a	chr12:26111532-26111545 chr12:26111778-26111791 chr12:26113344-26113358 chr12:26111808-26111821 chr12:26111525-26111536
34	RAD21	chr12:26110706-26113488	IMR90	lung:	n/a	chr12:26111781-26111791
35	GTF2F1	chr12:26110604-26111224	Hela-S3	cervix:	n/a	chr12:26110824-26110835
36	JUND	chr12:26110724-26111304	SK-N-SH	brain:	n/a	chr12:26110884-26110893
37	GATA3	chr12:26110569-26111720	SK-N-SH	brain:	n/a	chr12:26110670-26110679
38	NFIC	chr12:26110669-26111732	SK-N-SH	brain:	n/a	n/a
39	MAX	chr12:26110694-26111573	SK-N-SH	brain:	n/a	n/a
40	MAFK	chr12:26110787-26111422	IMR90	lung:	n/a	n/a
41	SMARCC1	chr12:26110212-26111291	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
RASSF8-AS1	TF binding region
RASSF8	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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv557802	chr12:26093161-26112158	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv17456	chr12:26108846-26114910	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv3337985	chr12:26109585-26113883	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3385039	chr12:26110185-26113083	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv3323230	chr12:26110310-26112858	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1840315	chr12:26110484-26112134	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	esv3366350	chr12:26110485-26113208	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26095800-26111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:26106000-26110800	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:26110000-26110800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:26110000-26111000	Flanking Active TSS	Hela-S3	cervix
5	chr12:26110000-26113600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:26110200-26110800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:26110200-26110800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:26110200-26110800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr12:26110200-26110800	Enhancers	Fetal Heart	heart
10	chr12:26110200-26110800	Weak transcription	Ovary	ovary
11	chr12:26110200-26110800	Flanking Active TSS	Osteobl	bone
12	chr12:26110200-26111000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:26110200-26111000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:26110200-26111000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:26110200-26112800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr12:26110200-26113400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:26110200-26115200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:26110400-26110800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:26110400-26110800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:26110400-26110800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr12:26110400-26111000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:26110400-26111000	Flanking Active TSS	HUVEC	blood vessel
23	chr12:26110400-26113200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:26110400-26113200	Active TSS	Fetal Muscle Trunk	muscle
25	chr12:26110400-26113400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr12:26110400-26113400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr12:26110400-26113400	Active TSS	Fetal Kidney	kidney
28	chr12:26110400-26113600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:26110400-26114000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr12:26110400-26114400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:26110600-26110800	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:26110600-26110800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr12:26110600-26110800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:26110600-26110800	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr12:26110600-26110800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:26110600-26110800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:26110600-26110800	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr12:26110600-26110800	Flanking Active TSS	Brain Germinal Matrix	brain
39	chr12:26110600-26110800	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr12:26110600-26110800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr12:26110600-26110800	Active TSS	Fetal Brain Male	brain
42	chr12:26110600-26110800	Enhancers	Fetal Intestine Large	intestine
43	chr12:26110600-26110800	Enhancers	Placenta	Placenta
44	chr12:26110600-26110800	Flanking Active TSS	Psoas Muscle	Psoas
45	chr12:26110600-26110800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr12:26110600-26110800	Flanking Active TSS	HMEC	breast
47	chr12:26110600-26110800	Flanking Active TSS	NHLF	lung
48	chr12:26110600-26111000	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr12:26110600-26111000	Flanking Active TSS	A549	lung
50	chr12:26110600-26111200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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