Variant report

Variant	rs190284903
Chromosome Location	chr12:118500035-118500036
allele	A/C
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	YY1	chr12:118499915-118500454	ECC-1	luminal epithelium:	n/a	n/a
12	YY1	chr12:118499897-118500447	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr12:118498414-118500384	GM15510	blood:	n/a	n/a
14	POLR2A	chr12:118499303-118500589	K562	blood:	n/a	n/a
15	CTCF	chr12:118499940-118500090	AG10803	skin:	n/a	n/a
16	POLR2A	chr12:118499682-118500432	GM12891	blood:	n/a	n/a
17	POLR2A	chr12:118498142-118500611	GM19099	blood:	n/a	n/a
18	POLR2A	chr12:118497654-118501113	K562	blood:	n/a	n/a
19	POLR2A	chr12:118498334-118500398	GM12878	blood:	n/a	n/a
20	ETS1	chr12:118499891-118500454	A549	lung:	n/a	n/a
21	POLR2A	chr12:118497113-118500947	IMR90	lung:	n/a	n/a
22	POLR2A	chr12:118498986-118500864	U87	brain:	n/a	n/a
23	POLR2A	chr12:118498787-118500742	HCT-116	colon:	n/a	n/a
24	MAZ	chr12:118498217-118500648	GM12878	blood:	n/a	n/a
25	TAF1	chr12:118499572-118500441	ECC-1	luminal epithelium:	n/a	n/a
26	MAZ	chr12:118497999-118500725	K562	blood:	n/a	n/a
27	ZBTB7A	chr12:118498266-118500237	K562	blood:	n/a	n/a
28	YY1	chr12:118499834-118500442	ECC-1	luminal epithelium:	n/a	n/a
29	CCNT2	chr12:118499778-118500178	K562	blood:	n/a	n/a
30	POLR2A	chr12:118499657-118500616	GM12892	blood:	n/a	n/a
31	RCOR1	chr12:118498941-118500653	K562	blood:	n/a	n/a
32	CUX1	chr12:118499921-118500334	K562	blood:	n/a	n/a
33	TEAD4	chr12:118499781-118500481	K562	blood:	n/a	n/a
34	TBP	chr12:118499772-118500551	GM12878	blood:	n/a	n/a
35	TEAD4	chr12:118499656-118500530	K562	blood:	n/a	n/a
36	ELF1	chr12:118499689-118500338	GM12878	blood:	n/a	n/a
37	POLR2A	chr12:118499231-118500817	PBDE	blood:	n/a	n/a
38	POLR2A	chr12:118498457-118500657	ProgFib	skin:	n/a	n/a
39	ELK1	chr12:118499969-118500169	K562	blood:	n/a	n/a
40	E2F6	chr12:118499874-118500425	A549	lung:	n/a	n/a
41	YY1	chr12:118499941-118500538	GM12891	blood:	n/a	n/a
42	REST	chr12:118499660-118500687	A549	lung:	n/a	n/a
43	PBX3	chr12:118498756-118500638	SK-N-SH	brain:	n/a	n/a
44	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
45	MTA3	chr12:118499830-118500235	GM12878	blood:	n/a	n/a
46	MAX	chr12:118498746-118500577	A549	lung:	n/a	n/a
47	TBL1XR1	chr12:118499479-118500842	K562	blood:	n/a	n/a
48	HA-E2F1	chr12:118499846-118500682	MCF-7	breast:	n/a	n/a
49	POLR2A	chr12:118498754-118500737	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr12:118498584-118500446	Hela-S3	cervix:	n/a	chr12:118499202-118499212

No.	Distal block	Cell Line	Cell type
1	chr12:118498235..118500819-chr9:19378763..19380360,2	MCF-7	breast:
2	chr12:118498692..118501195-chr12:118558625..118560440,2	MCF-7	breast:
3	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
4	chr12:118499217..118500774-chr12:118572851..118574591,2	MCF-7	breast:
5	chr10:33623927..33624428-chr12:118499255..118500110,2	Hela-S3	cervix:
6	chr12:118450883..118457954-chr12:118495063..118502199,13	K562	blood:
7	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
8	chr12:118498416..118504096-chr12:118537510..118543393,12	MCF-7	breast:

Variant related genes	Relation type
WSB2	TF binding region
ENSG00000089220	Chromatin interaction
ENSG00000137154	Chromatin interaction
ENSG00000111445	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000099250	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	chr12:118497400-118500600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:118497400-118500600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:118497400-118500600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:118497400-118500600	Active TSS	Fetal Intestine Large	intestine
12	chr12:118497400-118501000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr12:118497400-118501000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr12:118497400-118501000	Active TSS	Aorta	Aorta
15	chr12:118497400-118501000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:118497400-118501200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr12:118497400-118501400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:118497600-118500600	Active TSS	Psoas Muscle	Psoas
19	chr12:118497600-118500800	Active TSS	Esophagus	oesophagus
20	chr12:118497600-118500800	Active TSS	Left Ventricle	heart
21	chr12:118497600-118501400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr12:118497800-118500400	Active TSS	Fetal Stomach	stomach
23	chr12:118497800-118500400	Active TSS	Lung	lung
24	chr12:118497800-118500600	Active TSS	Fetal Intestine Small	intestine
25	chr12:118497800-118500800	Active TSS	Brain Hippocampus Middle	brain
26	chr12:118497800-118500800	Active TSS	Fetal Kidney	kidney
27	chr12:118497800-118500800	Active TSS	Ovary	ovary
28	chr12:118497800-118501000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:118497800-118501200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:118498000-118500400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr12:118498000-118500400	Active TSS	Gastric	stomach
32	chr12:118498000-118500600	Active TSS	Brain Cingulate Gyrus	brain
33	chr12:118498000-118500600	Active TSS	Thymus	Thymus
34	chr12:118498000-118500600	Active TSS	NHDF-Ad	bronchial
35	chr12:118498000-118500800	Active TSS	Pancreas	Pancrea
36	chr12:118498000-118500800	Active TSS	HepG2	liver
37	chr12:118498000-118501000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:118498000-118501000	Active TSS	Brain Angular Gyrus	brain
39	chr12:118498000-118501000	Active TSS	Small Intestine	intestine
40	chr12:118498000-118501000	Active TSS	Stomach Smooth Muscle	stomach
41	chr12:118498000-118501200	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr12:118498200-118500200	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr12:118498200-118500200	Active TSS	K562	blood
44	chr12:118498200-118500400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:118498200-118500400	Active TSS	A549	lung
46	chr12:118498200-118500400	Active TSS	NH-A	brain
47	chr12:118498200-118500600	Active TSS	Right Ventricle	heart
48	chr12:118498200-118500600	Active TSS	Hela-S3	cervix
49	chr12:118498200-118500800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr12:118498200-118501000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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