Variant report

Variant	rs539214663
Chromosome Location	chr12:118499808-118499809
allele	G/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	HCFC1	chr12:118498366-118500475	K562	blood:	n/a	n/a
2	TEAD4	chr12:118499798-118500395	H1-hESC	embryonic stem cell:	n/a	n/a
3	YY1	chr12:118499621-118500634	GM12878	blood:	n/a	n/a
4	POLR2A	chr12:118498244-118500854	K562	blood:	n/a	n/a
5	BCL3	chr12:118499702-118500613	A549	lung:	n/a	n/a
6	POLR2A	chr12:118498913-118500662	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr12:118499755-118500164	A549	lung:	n/a	n/a
8	YY1	chr12:118498742-118500075	K562	blood:	n/a	chr12:118499157-118499166 chr12:118499191-118499202
9	CBX3	chr12:118499675-118500583	K562	blood:	n/a	n/a
10	POLR2A	chr12:118499050-118500460	GM12892	blood:	n/a	n/a
11	POLR2A	chr12:118498414-118500384	GM15510	blood:	n/a	n/a
12	POLR2A	chr12:118499303-118500589	K562	blood:	n/a	n/a
13	POLR2A	chr12:118499682-118500432	GM12891	blood:	n/a	n/a
14	POLR2A	chr12:118498142-118500611	GM19099	blood:	n/a	n/a
15	POLR2A	chr12:118497654-118501113	K562	blood:	n/a	n/a
16	POLR2A	chr12:118498334-118500398	GM12878	blood:	n/a	n/a
17	POLR2A	chr12:118497113-118500947	IMR90	lung:	n/a	n/a
18	POLR2A	chr12:118498986-118500864	U87	brain:	n/a	n/a
19	POLR2A	chr12:118498787-118500742	HCT-116	colon:	n/a	n/a
20	MAZ	chr12:118498217-118500648	GM12878	blood:	n/a	n/a
21	TAF1	chr12:118499572-118500441	ECC-1	luminal epithelium:	n/a	n/a
22	MAZ	chr12:118497999-118500725	K562	blood:	n/a	n/a
23	ZBTB7A	chr12:118498266-118500237	K562	blood:	n/a	n/a
24	CCNT2	chr12:118499778-118500178	K562	blood:	n/a	n/a
25	POLR2A	chr12:118499657-118500616	GM12892	blood:	n/a	n/a
26	RCOR1	chr12:118498941-118500653	K562	blood:	n/a	n/a
27	NFATC1	chr12:118499523-118500008	GM12878	blood:	n/a	n/a
28	TEAD4	chr12:118499781-118500481	K562	blood:	n/a	n/a
29	TBP	chr12:118499772-118500551	GM12878	blood:	n/a	n/a
30	TEAD4	chr12:118499656-118500530	K562	blood:	n/a	n/a
31	ELF1	chr12:118499689-118500338	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:118499231-118500817	PBDE	blood:	n/a	n/a
33	POLR2A	chr12:118498457-118500657	ProgFib	skin:	n/a	n/a
34	REST	chr12:118499660-118500687	A549	lung:	n/a	n/a
35	PBX3	chr12:118498756-118500638	SK-N-SH	brain:	n/a	n/a
36	IRF1	chr12:118497485-118500502	K562	blood:	n/a	chr12:118498209-118498223 chr12:118498646-118498659 chr12:118498640-118498660 chr12:118499156-118499170 chr12:118498648-118498659 chr12:118499782-118499791 chr12:118498646-118498659 chr12:118498648-118498658 chr12:118498644-118498658 chr12:118498641-118498658 chr12:118498647-118498664 chr12:118498646-118498659 chr12:118498648-118498662 chr12:118498645-118498659
37	MAX	chr12:118498746-118500577	A549	lung:	n/a	n/a
38	TBL1XR1	chr12:118499479-118500842	K562	blood:	n/a	n/a
39	POLR2A	chr12:118498754-118500737	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr12:118498584-118500446	Hela-S3	cervix:	n/a	chr12:118499202-118499212
41	POLR2A	chr12:118499530-118499852	HUVEC	blood vessel:	n/a	n/a
42	PBX3	chr12:118498807-118500498	A549	lung:	n/a	n/a
43	GATA3	chr12:118499712-118500049	T-47D	breast:	n/a	n/a
44	REST	chr12:118497666-118500729	H1-neurons	neurons:	n/a	chr12:118497901-118497915 chr12:118499257-118499271 chr12:118499202-118499212
45	POLR2A	chr12:118499787-118500704	MCF-7	breast:	n/a	n/a
46	POLR2A	chr12:118499060-118500336	GM12878	blood:	n/a	n/a
47	POLR2A	chr12:118499741-118499964	A549	lung:	n/a	n/a
48	POLR2A	chr12:118499055-118500518	K562	blood:	n/a	n/a
49	POLR2A	chr12:118498818-118501016	HCT-116	colon:	n/a	n/a
50	HEY1	chr12:118499001-118500451	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118498235..118500819-chr9:19378763..19380360,2	MCF-7	breast:
2	chr12:118499112..118499998-chr19:39902716..39903531,2	Hela-S3	cervix:
3	chr12:118498692..118501195-chr12:118558625..118560440,2	MCF-7	breast:
4	chr12:118498119..118500024-chr12:118572981..118575568,2	K562	blood:
5	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
6	chr12:118499217..118500774-chr12:118572851..118574591,2	MCF-7	breast:
7	chr10:33623927..33624428-chr12:118499255..118500110,2	Hela-S3	cervix:
8	chr12:118450883..118457954-chr12:118495063..118502199,13	K562	blood:
9	chr11:65193091..65193924-chr12:118499181..118499883,2	Hela-S3	cervix:
10	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
11	chr12:118499104..118499911-chr2:28614266..28615159,2	Hela-S3	cervix:
12	chr12:118498416..118504096-chr12:118537510..118543393,12	MCF-7	breast:
13	chr12:118499092..118500000-chr6:30524301..30524884,2	Hela-S3	cervix:

Variant related genes	Relation type
WSB2	TF binding region
ENSG00000204576	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000090924	Chromatin interaction
ENSG00000111445	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000099250	Chromatin interaction
ENSG00000176834	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795965	chr12:118463329-118504859	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	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
3	esv3500854	chr12:118497269-118501167	Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
4	esv3437249	chr12:118497594-118500542	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
5	esv3500853	chr12:118497894-118500567	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
6	esv3500855	chr12:118497894-118500567	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	esv18643	chr12:118499231-118500113	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118496800-118501600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:118497000-118500400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:118497000-118501000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:118497000-118501000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:118497200-118500400	Active TSS	HSMMtube	muscle
6	chr12:118497200-118500800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:118497200-118501200	Active TSS	H1 Cell Line	embryonic stem cell
8	chr12:118497400-118500000	Active TSS	NHLF	lung
9	chr12:118497400-118500600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:118497400-118500600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:118497400-118500600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:118497400-118500600	Active TSS	Fetal Intestine Large	intestine
13	chr12:118497400-118501000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr12:118497400-118501000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr12:118497400-118501000	Active TSS	Aorta	Aorta
16	chr12:118497400-118501000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr12:118497400-118501200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr12:118497400-118501400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr12:118497600-118500000	Active TSS	Fetal Muscle Trunk	muscle
20	chr12:118497600-118500600	Active TSS	Psoas Muscle	Psoas
21	chr12:118497600-118500800	Active TSS	Esophagus	oesophagus
22	chr12:118497600-118500800	Active TSS	Left Ventricle	heart
23	chr12:118497600-118501400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr12:118497800-118500000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:118497800-118500400	Active TSS	Fetal Stomach	stomach
26	chr12:118497800-118500400	Active TSS	Lung	lung
27	chr12:118497800-118500600	Active TSS	Fetal Intestine Small	intestine
28	chr12:118497800-118500800	Active TSS	Brain Hippocampus Middle	brain
29	chr12:118497800-118500800	Active TSS	Fetal Kidney	kidney
30	chr12:118497800-118500800	Active TSS	Ovary	ovary
31	chr12:118497800-118501000	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr12:118497800-118501200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:118498000-118500000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:118498000-118500000	Active TSS	HSMM	muscle
35	chr12:118498000-118500400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr12:118498000-118500400	Active TSS	Gastric	stomach
37	chr12:118498000-118500600	Active TSS	Brain Cingulate Gyrus	brain
38	chr12:118498000-118500600	Active TSS	Thymus	Thymus
39	chr12:118498000-118500600	Active TSS	NHDF-Ad	bronchial
40	chr12:118498000-118500800	Active TSS	Pancreas	Pancrea
41	chr12:118498000-118500800	Active TSS	HepG2	liver
42	chr12:118498000-118501000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:118498000-118501000	Active TSS	Brain Angular Gyrus	brain
44	chr12:118498000-118501000	Active TSS	Small Intestine	intestine
45	chr12:118498000-118501000	Active TSS	Stomach Smooth Muscle	stomach
46	chr12:118498000-118501200	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr12:118498200-118500000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:118498200-118500000	Active TSS	Stomach Mucosa	stomach
49	chr12:118498200-118500200	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr12:118498200-118500200	Active TSS	K562	blood

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