Variant report

Variant	rs2956112
Chromosome Location	chr11:34937901-34937902
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	CEBPB	chr11:34937699-34937923	Hela-S3	cervix:	n/a	n/a
2	REST	chr11:34937162-34937949	HL-60	blood:	n/a	chr11:34937546-34937556 chr11:34937662-34937675
3	TAF1	chr11:34937181-34938599	K562	blood:	n/a	n/a
4	POLR2A	chr11:34936991-34938873	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:34937239-34938481	GM12891	blood:	n/a	n/a
6	EBF1	chr11:34937359-34937916	GM12878	blood:	n/a	chr11:34937734-34937745
7	PBX3	chr11:34937267-34938517	SK-N-SH	brain:	n/a	n/a
8	E2F6	chr11:34937286-34938484	K562	blood:	n/a	chr11:34937708-34937718 chr11:34937408-34937417 chr11:34938138-34938147 chr11:34937536-34937545 chr11:34937774-34937786 chr11:34937536-34937546 chr11:34937537-34937548 chr11:34938069-34938078 chr11:34938051-34938060 chr11:34937537-34937544 chr11:34937536-34937547 chr11:34937537-34937548 chr11:34937537-34937548
9	CEBPD	chr11:34937661-34938385	K562	blood:	n/a	n/a
10	MYC	chr11:34937605-34938297	MCF10A-Er-Src	breast:	n/a	n/a
11	GTF2F1	chr11:34937847-34938469	Hela-S3	cervix:	n/a	n/a
12	ETS1	chr11:34937539-34937944	K562	blood:	n/a	n/a
13	CHD2	chr11:34937160-34938695	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr11:34937192-34938723	SK-N-SH	brain:	n/a	chr11:34938198-34938210 chr11:34938192-34938212 chr11:34938069-34938078 chr11:34938135-34938149
15	POLR2A	chr11:34937060-34937984	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr11:34937450-34938424	GM10847	blood:	n/a	n/a
17	MAZ	chr11:34937342-34938704	Hela-S3	cervix:	n/a	chr11:34938367-34938377
18	POLR2A	chr11:34937272-34938598	MCF-7	breast:	n/a	n/a
19	POLR2A	chr11:34937225-34938550	HUVEC	blood vessel:	n/a	n/a
20	MAX	chr11:34937395-34938328	K562	blood:	n/a	n/a
21	ELF1	chr11:34937525-34938341	K562	blood:	n/a	n/a
22	IRF1	chr11:34937488-34938752	K562	blood:	n/a	chr11:34938068-34938082 chr11:34938050-34938064 chr11:34938116-34938130 chr11:34938137-34938151 chr11:34937759-34937773
23	TCF12	chr11:34937262-34938569	ECC-1	luminal epithelium:	n/a	n/a
24	MAX	chr11:34937020-34938542	A549	lung:	n/a	chr11:34938367-34938377
25	ZNF143	chr11:34937807-34938407	H1-hESC	embryonic stem cell:	n/a	n/a
26	GTF2F1	chr11:34937735-34937905	K562	blood:	n/a	n/a
27	MAX	chr11:34937743-34938353	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr11:34937068-34938638	K562	blood:	n/a	n/a
29	POLR2A	chr11:34937301-34938420	HepG2	liver:	n/a	n/a
30	RUNX3	chr11:34937083-34938498	GM12878	blood:	n/a	n/a
31	HA-E2F1	chr11:34937166-34937936	MCF-7	breast:	n/a	chr11:34937708-34937718 chr11:34937408-34937417 chr11:34937536-34937545 chr11:34937536-34937546 chr11:34937537-34937548 chr11:34937537-34937544 chr11:34937536-34937547 chr11:34937537-34937548 chr11:34937537-34937548
32	UBTF	chr11:34937082-34938383	K562	blood:	n/a	n/a
33	PML	chr11:34937731-34937966	GM12878	blood:	n/a	n/a
34	ELK1	chr11:34937746-34937923	GM12878	blood:	n/a	n/a
35	USF1	chr11:34937822-34938311	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr11:34937133-34938775	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr11:34937241-34938515	GM18951	blood:	n/a	n/a
38	ELF1	chr11:34937743-34938209	K562	blood:	n/a	n/a
39	TAF1	chr11:34937291-34938731	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr11:34937144-34938473	GM12878	blood:	n/a	n/a
41	UBTF	chr11:34937494-34937912	K562	blood:	n/a	n/a
42	TAF1	chr11:34937225-34937925	Hela-S3	cervix:	n/a	n/a
43	MXI1	chr11:34937162-34938857	Hela-S3	cervix:	n/a	n/a
44	ELF1	chr11:34937720-34938353	HepG2	liver:	n/a	n/a
45	GABPA	chr11:34937657-34938290	K562	blood:	n/a	chr11:34937682-34937691 chr11:34937878-34937887 chr11:34938069-34938078
46	TAF1	chr11:34937192-34938577	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr11:34937118-34938874	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr11:34937084-34938790	Hela-S3	cervix:	n/a	n/a
49	CBX3	chr11:34937599-34938382	K562	blood:	n/a	n/a
50	E2F4	chr11:34937236-34938629	K562	blood:	n/a	chr11:34937708-34937718 chr11:34937408-34937417 chr11:34938138-34938147 chr11:34937536-34937545 chr11:34937774-34937786 chr11:34937536-34937546 chr11:34937537-34937548 chr11:34938069-34938078 chr11:34938051-34938060 chr11:34937537-34937544 chr11:34937536-34937547 chr11:34937537-34937548 chr11:34937537-34937548 chr11:34937546-34937557

No.	Distal block	Cell Line	Cell type
1	chr11:34937322..34938942-chr11:35639938..35642002,2	MCF-7	breast:
2	chr11:34591227..34593757-chr11:34936738..34938685,2	MCF-7	breast:
3	chr11:34936821..34938525-chr17:38476825..38479359,2	MCF-7	breast:
4	chr11:34937811..34940525-chr11:34962659..34964952,2	MCF-7	breast:
5	chr11:34937866..34938405-chr16:87425618..87426289,2	HCT-116	colon:
6	chr11:34937697..34938489-chr19:2475911..2476465,2	Hela-S3	cervix:
7	chr11:34937272..34938502-chr11:118134559..118135201,3	Hela-S3	cervix:

Variant related genes	Relation type
APIP	TF binding region
PDHX	TF binding region
ENSG00000179431	Chromatin interaction
ENSG00000140941	Chromatin interaction
ENSG00000251862	Chromatin interaction
ENSG00000149573	Chromatin interaction
ENSG00000099860	Chromatin interaction
ENSG00000103264	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000255427	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1117051	0.82[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap]
rs1553759	1.00[CHB][hapmap]
rs1553760	1.00[CHB][hapmap]
rs1553761	0.92[CHB][hapmap]
rs1553762	1.00[CHB][hapmap]
rs1960524	0.84[CHB][hapmap];0.92[JPT][hapmap]
rs1991648	0.91[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap]
rs2031686	0.91[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap]
rs2915198	0.91[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap]
rs2915208	0.90[CEU][hapmap]
rs2915214	0.91[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap]
rs2915217	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2915225	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2956077	0.91[CEU][hapmap];0.92[JPT][hapmap]
rs2956086	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs2956095	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2956097	0.81[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2956098	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2956116	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2956118	0.88[CEU][hapmap]
rs2956120	1.00[CEU][hapmap]
rs2956125	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2985150	0.91[CEU][hapmap];0.93[JPT][hapmap]
rs2985382	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2986403	0.83[CEU][hapmap];0.92[JPT][hapmap]
rs2986405	0.91[CEU][hapmap];0.84[JPT][hapmap]
rs2986406	0.91[CEU][hapmap];0.93[JPT][hapmap]
rs2986408	0.91[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap]
rs2986413	0.91[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap]
rs2986421	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs496653	0.91[CEU][hapmap]
rs520658	0.91[CEU][hapmap];0.92[JPT][hapmap]
rs724714	0.91[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap]
rs984690	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832119	chr11:34815528-35009370	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv2757436	chr11:34913315-34963728	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
4	esv2759817	chr11:34913315-34963728	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
5	esv34511	chr11:34914124-34942836	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	esv2756165	chr11:34914137-34942836	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2956112	APIP	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34936200-34939200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:34936200-34940000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:34936600-34938800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:34936600-34938800	Active TSS	Sigmoid Colon	Sigmoid Colon
5	chr11:34936600-34939000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:34936600-34939000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:34936600-34939200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:34936600-34939200	Active TSS	HMEC	breast
9	chr11:34936600-34939600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:34936600-34939800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr11:34936800-34938600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:34936800-34938800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:34936800-34939000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:34936800-34939000	Active TSS	Fetal Brain Female	brain
15	chr11:34936800-34939000	Active TSS	Psoas Muscle	Psoas
16	chr11:34936800-34939000	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr11:34936800-34939000	Active TSS	A549	lung
18	chr11:34936800-34939000	Active TSS	GM12878-XiMat	blood
19	chr11:34936800-34939200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr11:34936800-34939200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:34936800-34939200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:34936800-34939200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr11:34936800-34939200	Active TSS	Brain Angular Gyrus	brain
24	chr11:34936800-34939200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr11:34936800-34939200	Active TSS	NHLF	lung
26	chr11:34936800-34939600	Active TSS	Right Ventricle	heart
27	chr11:34937000-34938400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:34937000-34938600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:34937000-34938600	Active TSS	Fetal Lung	lung
30	chr11:34937000-34938600	Active TSS	Placenta	Placenta
31	chr11:34937000-34938800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:34937000-34938800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:34937000-34938800	Active TSS	Esophagus	oesophagus
34	chr11:34937000-34938800	Active TSS	Small Intestine	intestine
35	chr11:34937000-34938800	Active TSS	NH-A	brain
36	chr11:34937000-34939000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:34937000-34939000	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr11:34937000-34939000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr11:34937000-34939000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:34937000-34939000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:34937000-34939000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr11:34937000-34939000	Active TSS	Aorta	Aorta
43	chr11:34937000-34939000	Active TSS	Brain Anterior Caudate	brain
44	chr11:34937000-34939000	Active TSS	Brain Germinal Matrix	brain
45	chr11:34937000-34939000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:34937000-34939000	Active TSS	Gastric	stomach
47	chr11:34937000-34939000	Active TSS	Lung	lung
48	chr11:34937000-34939000	Active TSS	Ovary	ovary
49	chr11:34937000-34939000	Active TSS	Pancreas	Pancrea
50	chr11:34937000-34939000	Active TSS	Placenta Amnion	Placenta Amnion

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