Variant report

Variant	rs4128857
Chromosome Location	chr12:118501565-118501566
allele	A/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	JUND	chr12:118501413-118501754	HepG2	liver:	n/a	n/a
2	MXI1	chr12:118501520-118501604	GM12878	blood:	n/a	n/a
3	EP300	chr12:118501393-118502445	HepG2	liver:	n/a	n/a
4	CEBPB	chr12:118501390-118501790	HepG2	liver:	n/a	chr12:118501576-118501587
5	ARID3A	chr12:118501494-118502233	HepG2	liver:	n/a	n/a
6	CEBPB	chr12:118501398-118501746	H1-hESC	embryonic stem cell:	n/a	chr12:118501576-118501587
7	CEBPB	chr12:118501399-118501740	A549	lung:	n/a	chr12:118501576-118501587
8	KAP1	chr12:118501486-118502695	HEK293	kidney:	n/a	n/a
9	CEBPB	chr12:118501354-118501763	K562	blood:	n/a	chr12:118501576-118501587
10	MAFK	chr12:118501440-118501751	IMR90	lung:	n/a	n/a
11	JUND	chr12:118501278-118502689	K562	blood:	n/a	n/a
12	EP300	chr12:118501415-118501745	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:118501432-118501785	HepG2	liver:	n/a	chr12:118501576-118501587
14	FOXA2	chr12:118501273-118502288	HepG2	liver:	n/a	n/a
15	CEBPB	chr12:118501386-118501886	A549	lung:	n/a	chr12:118501576-118501587
16	FOXA1	chr12:118501335-118502222	HepG2	liver:	n/a	n/a
17	POLR2A	chr12:118501451-118503879	K562	blood:	n/a	n/a
18	POLR2A	chr12:118501383-118501775	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr12:118501392-118501761	A549	lung:	n/a	chr12:118501576-118501587
20	HEY1	chr12:118501554-118502239	HepG2	liver:	n/a	n/a
21	FOS	chr12:118501416-118501735	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr12:118501242-118502243	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr12:118501381-118501870	HCT-116	colon:	n/a	n/a
24	EP300	chr12:118501373-118502036	K562	blood:	n/a	n/a
25	FOS	chr12:118501437-118501636	MCF10A-Er-Src	breast:	n/a	n/a
26	EP300	chr12:118501466-118501626	HepG2	liver:	n/a	n/a
27	CEBPB	chr12:118501367-118501830	MCF-7	breast:	n/a	chr12:118501576-118501587
28	MXI1	chr12:118501525-118502244	HepG2	liver:	n/a	n/a
29	CEBPB	chr12:118501382-118501774	IMR90	lung:	n/a	chr12:118501576-118501587
30	FOXA1	chr12:118501244-118502262	HepG2	liver:	n/a	n/a
31	JUN	chr12:118501424-118501692	HepG2	liver:	n/a	chr12:118501577-118501590
32	POLR2A	chr12:118501457-118501618	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr12:118501384-118501779	K562	blood:	n/a	chr12:118501576-118501587
34	POLR2A	chr12:118501292-118502492	PANC-1	pancreas:	n/a	n/a
35	ATF3	chr12:118501434-118501751	K562	blood:	n/a	n/a
36	CEBPB	chr12:118501425-118501642	K562	blood:	n/a	chr12:118501576-118501587
37	FOXA2	chr12:118501417-118501597	HepG2	liver:	n/a	n/a
38	CEBPB	chr12:118501484-118501645	HepG2	liver:	n/a	chr12:118501576-118501587
39	CEBPB	chr12:118501384-118501784	Hela-S3	cervix:	n/a	chr12:118501576-118501587
40	POLR2A	chr12:118501389-118501734	HepG2	liver:	n/a	n/a
41	FOXA1	chr12:118501411-118502218	HepG2	liver:	n/a	n/a
42	GTF2F1	chr12:118501390-118501582	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr12:118501441-118501586	HUVEC	blood vessel:	n/a	n/a
44	MYBL2	chr12:118501531-118502419	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:118501534-118502256	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118500782..118503248-chr12:118527475..118529536,2	K562	blood:
2	chr12:118500895..118502503-chr12:118521704..118523739,2	K562	blood:
3	chr12:118500316..118502003-chr12:118542187..118545128,2	K562	blood:
4	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
5	chr12:118450883..118457954-chr12:118495063..118502199,13	K562	blood:
6	chr12:118497809..118500285-chr12:118500321..118504066,7	MCF-7	breast:
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
ENSG00000176871	Chromatin interaction
ENSG00000089220	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000111445	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3202930	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4128857	FLJ20674	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 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	chr12:118500400-118501600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:118500400-118507800	Weak transcription	Lung	lung
4	chr12:118500400-118515400	Weak transcription	Gastric	stomach
5	chr12:118500400-118516800	Weak transcription	Spleen	Spleen
6	chr12:118500600-118501600	Weak transcription	HSMMtube	muscle
7	chr12:118500600-118503200	Enhancers	Stomach Mucosa	stomach
8	chr12:118500600-118504000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:118500600-118535200	Weak transcription	Brain Substantia Nigra	brain
10	chr12:118500800-118501600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:118500800-118501600	Enhancers	Fetal Brain Male	brain
12	chr12:118500800-118501600	Weak transcription	Fetal Heart	heart
13	chr12:118500800-118501600	Weak transcription	Ovary	ovary
14	chr12:118500800-118501800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:118500800-118501800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:118500800-118502000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:118500800-118502000	Weak transcription	Fetal Kidney	kidney
18	chr12:118500800-118502000	Enhancers	A549	lung
19	chr12:118500800-118502200	Weak transcription	Primary T cells from cord blood	blood
20	chr12:118500800-118502600	Enhancers	Liver	Liver
21	chr12:118500800-118502600	Enhancers	Placenta	Placenta
22	chr12:118500800-118502800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:118500800-118502800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:118500800-118502800	Enhancers	Adipose Nuclei	Adipose
25	chr12:118500800-118503600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:118500800-118503800	Enhancers	Primary B cells from cord blood	blood
27	chr12:118500800-118503800	Weak transcription	HSMM	muscle
28	chr12:118500800-118504000	Enhancers	Dnd41	blood
29	chr12:118500800-118511000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:118500800-118515400	Weak transcription	Esophagus	oesophagus
31	chr12:118500800-118518200	Weak transcription	Left Ventricle	heart
32	chr12:118500800-118526400	Weak transcription	HMEC	breast
33	chr12:118500800-118539600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr12:118500800-118539800	Weak transcription	Right Ventricle	heart
35	chr12:118500800-118540800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:118501000-118501600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr12:118501000-118501600	Weak transcription	Brain Anterior Caudate	brain
38	chr12:118501000-118501600	Enhancers	NHLF	lung
39	chr12:118501000-118501600	Enhancers	Osteobl	bone
40	chr12:118501000-118501800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:118501000-118501800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:118501000-118501800	Enhancers	NHEK	skin
43	chr12:118501000-118502000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:118501000-118502000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:118501000-118502000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:118501000-118502000	Enhancers	Colon Smooth Muscle	Colon
47	chr12:118501000-118502000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:118501000-118502000	Enhancers	Fetal Lung	lung
49	chr12:118501000-118502200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:118501000-118502200	Weak transcription	Primary T cells fromperipheralblood	blood

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