Variant report

Variant	rs544219314
Chromosome Location	chr12:118810647-118810648
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	SP1	chr12:118810611-118811205	GM12878	blood:	n/a	chr12:118810751-118810760 chr12:118810952-118810964 chr12:118810751-118810760 chr12:118810792-118810802 chr12:118810752-118810761 chr12:118810772-118810784 chr12:118810792-118810802 chr12:118810772-118810784 chr12:118810792-118810801 chr12:118810952-118810964 chr12:118810750-118810762 chr12:118810954-118810963 chr12:118810750-118810762 chr12:118810751-118810761 chr12:118810774-118810783
2	RUNX3	chr12:118810350-118811285	GM12878	blood:	n/a	n/a
3	TCF12	chr12:118810550-118811200	GM12878	blood:	n/a	chr12:118810700-118810707
4	POLR2A	chr12:118810491-118810786	HepG2	liver:	n/a	n/a
5	YY1	chr12:118810490-118811241	GM12878	blood:	n/a	chr12:118810676-118810685 chr12:118810643-118810652 chr12:118810778-118810789 chr12:118810671-118810685 chr12:118810676-118810690
6	SIN3AK20	chr12:118810258-118811488	MCF-7	breast:	n/a	n/a
7	REST	chr12:118810357-118810792	GM12878	blood:	n/a	chr12:118810689-118810709 chr12:118810692-118810705 chr12:118810689-118810709 chr12:118810694-118810703 chr12:118810692-118810705 chr12:118810689-118810702 chr12:118810689-118810698 chr12:118810689-118810709
8	PBX3	chr12:118810456-118811254	SK-N-SH	brain:	n/a	n/a
9	MAZ	chr12:118810189-118811748	IMR90	lung:	n/a	chr12:118810404-118810414
10	POLR2A	chr12:118810504-118810753	A549	lung:	n/a	n/a
11	PML	chr12:118810590-118811169	GM12878	blood:	n/a	n/a
12	TAF1	chr12:118810465-118810827	HepG2	liver:	n/a	n/a
13	REST	chr12:118810533-118810812	HepG2	liver:	n/a	chr12:118810689-118810709 chr12:118810692-118810705 chr12:118810689-118810709 chr12:118810694-118810703 chr12:118810692-118810705 chr12:118810689-118810702 chr12:118810689-118810698 chr12:118810689-118810709
14	POLR2A	chr12:118810333-118811673	GM18526	blood:	n/a	n/a
15	ZNF143	chr12:118810580-118811090	H1-hESC	embryonic stem cell:	n/a	chr12:118810645-118810655 chr12:118810880-118810899
16	MXI1	chr12:118810326-118811323	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:118810453-118811825	HepG2	liver:	n/a	n/a
18	YY1	chr12:118810440-118811099	ECC-1	luminal epithelium:	n/a	chr12:118810676-118810685 chr12:118810643-118810652 chr12:118810778-118810789 chr12:118810671-118810685 chr12:118810676-118810690
19	SRF	chr12:118810443-118811149	ECC-1	luminal epithelium:	n/a	chr12:118810752-118810762
20	RCOR1	chr12:118810334-118811250	HepG2	liver:	n/a	n/a
21	SMARCB1	chr12:118810181-118811091	Hela-S3	cervix:	n/a	n/a
22	YY1	chr12:118810551-118811236	SK-N-SH	brain:	n/a	chr12:118810676-118810685 chr12:118810643-118810652 chr12:118810778-118810789 chr12:118810671-118810685 chr12:118810676-118810690
23	SRF	chr12:118810538-118811114	GM12878	blood:	n/a	chr12:118810752-118810762
24	TBL1XR1	chr12:118810599-118811337	GM12878	blood:	n/a	n/a
25	SP1	chr12:118810437-118811324	A549	lung:	n/a	chr12:118810751-118810760 chr12:118810952-118810964 chr12:118810751-118810760 chr12:118810792-118810802 chr12:118810752-118810761 chr12:118810772-118810784 chr12:118810792-118810802 chr12:118810772-118810784 chr12:118810792-118810801 chr12:118810952-118810964 chr12:118810750-118810762 chr12:118810954-118810963 chr12:118810750-118810762 chr12:118810751-118810761 chr12:118810774-118810783
26	RAD21	chr12:118810577-118810804	K562	blood:	n/a	chr12:118810776-118810786
27	GTF2F1	chr12:118810538-118811169	K562	blood:	n/a	n/a
28	POLR2A	chr12:118810494-118811304	HUVEC	blood vessel:	n/a	n/a
29	TAL1	chr12:118810572-118811887	K562	blood:	n/a	n/a
30	POLR2A	chr12:118810433-118811556	U87	brain:	n/a	n/a
31	RFX5	chr12:118810575-118811084	HepG2	liver:	n/a	n/a
32	POLR2A	chr12:118810410-118811251	HCT-116	colon:	n/a	n/a
33	MEF2A	chr12:118810631-118811079	GM12878	blood:	n/a	n/a
34	CTCF	chr12:118810549-118811055	GM12878	blood:	n/a	chr12:118810776-118810789 chr12:118810707-118810720
35	MYC	chr12:118810569-118811148	MCF10A-Er-Src	breast:	n/a	n/a
36	IRF1	chr12:118810555-118811806	K562	blood:	n/a	chr12:118810748-118810762
37	EGR1	chr12:118810290-118810950	K562	blood:	n/a	chr12:118810772-118810786 chr12:118810775-118810788
38	POLR2A	chr12:118810442-118810828	HepG2	liver:	n/a	n/a
39	POLR2A	chr12:118810468-118811534	GM12878	blood:	n/a	n/a
40	EP300	chr12:118810590-118811137	T-47D	breast:	n/a	chr12:118810677-118810686 chr12:118810674-118810683
41	HEY1	chr12:118810494-118810732	HepG2	liver:	n/a	chr12:118810672-118810687
42	ELK1	chr12:118810522-118811058	Hela-S3	cervix:	n/a	n/a
43	BACH1	chr12:118810443-118810777	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr12:118810352-118811368	GM12878	blood:	n/a	n/a
45	PAX5	chr12:118810467-118810745	GM12878	blood:	n/a	n/a
46	REST	chr12:118810461-118811079	U87	brain:	n/a	chr12:118810689-118810709 chr12:118810692-118810705 chr12:118810689-118810709 chr12:118810694-118810703 chr12:118810692-118810705 chr12:118810689-118810702 chr12:118810689-118810698 chr12:118810689-118810709
47	RFX5	chr12:118810511-118811199	Hela-S3	cervix:	n/a	n/a
48	UBTF	chr12:118810381-118810718	K562	blood:	n/a	n/a
49	YY1	chr12:118810479-118811102	SK-N-SH_RA	brain:	n/a	chr12:118810676-118810685 chr12:118810643-118810652 chr12:118810778-118810789 chr12:118810671-118810685 chr12:118810676-118810690
50	POLR2A	chr12:118810425-118811235	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118810455..118810963-chr9:19049262..19049813,2	NB4	blood:
2	chr12:118789693..118801109-chr12:118805205..118813455,21	K562	blood:
3	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
4	chr12:118810213..118810955-chr16:2205143..2205838,2	NB4	blood:
5	chr12:118810369..118811334-chr3:49058449..49058968,2	NB4	blood:
6	chr12:118810564..118811520-chr17:37895768..37896672,2	Hela-S3	cervix:
7	chr12:118791019..118798938-chr12:118809011..118813946,9	MCF-7	breast:
8	chr12:118792933..118800473-chr12:118805927..118813309,24	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VSIG10-4	chr12:118810453-118810698	NONHSAT031036

Variant related genes	Relation type
SUDS3	TF binding region
ENSG00000178057	Chromatin interaction
ENSG00000135090	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000131653	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000178149	Chromatin interaction
ENSG00000155876	Chromatin interaction
ENSG00000176834	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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv3413770	chr12:118808569-118812117	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118807200-118811400	Active TSS	NHDF-Ad	bronchial
2	chr12:118808000-118811400	Active TSS	NHLF	lung
3	chr12:118808400-118811200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:118808400-118811200	Active TSS	Brain Anterior Caudate	brain
5	chr12:118808400-118811200	Active TSS	Duodenum Mucosa	Duodenum
6	chr12:118808400-118811200	Active TSS	Fetal Intestine Large	intestine
7	chr12:118808400-118811600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:118808600-118811400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:118808600-118811400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:118808600-118811400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:118808600-118811400	Active TSS	Brain Substantia Nigra	brain
12	chr12:118808600-118811400	Active TSS	Colonic Mucosa	Colon
13	chr12:118808600-118811600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:118808600-118811800	Active TSS	Right Atrium	heart
15	chr12:118808800-118811000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr12:118808800-118811200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr12:118808800-118811200	Active TSS	Fetal Intestine Small	intestine
18	chr12:118808800-118811200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr12:118808800-118811200	Active TSS	HMEC	breast
20	chr12:118808800-118811400	Active TSS	Rectal Smooth Muscle	rectum
21	chr12:118808800-118811400	Active TSS	Right Ventricle	heart
22	chr12:118808800-118811400	Active TSS	GM12878-XiMat	blood
23	chr12:118809000-118811000	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr12:118809000-118811200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:118809000-118811200	Active TSS	Brain Hippocampus Middle	brain
26	chr12:118809000-118811200	Active TSS	Gastric	stomach
27	chr12:118809000-118811200	Active TSS	Pancreas	Pancrea
28	chr12:118809000-118811200	Active TSS	HSMMtube	muscle
29	chr12:118809000-118811200	Active TSS	NH-A	brain
30	chr12:118809000-118811200	Active TSS	NHEK	skin
31	chr12:118809000-118811200	Active TSS	Osteobl	bone
32	chr12:118809000-118811400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr12:118809000-118811400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr12:118809000-118811400	Active TSS	Aorta	Aorta
35	chr12:118809000-118811400	Active TSS	Brain Angular Gyrus	brain
36	chr12:118809000-118811400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:118809000-118811400	Active TSS	Colon Smooth Muscle	Colon
38	chr12:118809000-118811400	Active TSS	Lung	lung
39	chr12:118809000-118811400	Active TSS	HSMM	muscle
40	chr12:118809000-118811600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr12:118809000-118811600	Active TSS	Left Ventricle	heart
42	chr12:118809200-118811000	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr12:118809200-118811000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:118809200-118811200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:118809200-118811200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:118809200-118811200	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr12:118809200-118811200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:118809200-118811200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr12:118809200-118811200	Active TSS	Liver	Liver
50	chr12:118809200-118811200	Active TSS	Small Intestine	intestine

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