Variant report

Variant	rs7111018
Chromosome Location	chr11:35160293-35160294
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	E2F6	chr11:35159983-35161664	Hela-S3	cervix:	n/a	chr11:35160329-35160336 chr11:35160974-35160984 chr11:35160404-35160414 chr11:35160329-35160336 chr11:35160329-35160336
2	POLR2A	chr11:35160236-35161886	GM18951	blood:	n/a	n/a
3	CTCF	chr11:35160166-35160298	A549	lung:	n/a	n/a
4	MAZ	chr11:35160201-35160875	GM12878	blood:	n/a	chr11:35160823-35160833
5	ZBTB7A	chr11:35160237-35161477	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr11:35160258-35161769	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:35160288-35162443	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:35159893-35163743	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr11:35159789-35167151	IMR90	lung:	n/a	n/a
10	MAX	chr11:35159898-35161398	SK-N-SH	brain:	n/a	chr11:35161193-35161203 chr11:35160823-35160833
11	E2F6	chr11:35160258-35160415	K562	blood:	n/a	chr11:35160329-35160336 chr11:35160404-35160414 chr11:35160329-35160336 chr11:35160329-35160336
12	MTA3	chr11:35159898-35161905	GM12878	blood:	n/a	n/a
13	EBF1	chr11:35160001-35161428	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:35158320-35197578	PANC-1	pancreas:	n/a	n/a
15	YY1	chr11:35160180-35161173	GM12892	blood:	n/a	chr11:35160556-35160570 chr11:35160943-35160955 chr11:35160543-35160557 chr11:35160979-35160993 chr11:35160783-35160794
16	SIN3A	chr11:35160088-35161010	H1-hESC	embryonic stem cell:	n/a	chr11:35160553-35160564 chr11:35160974-35160987
17	POLR2A	chr11:35160056-35161804	GM19193	blood:	n/a	n/a
18	POLR2A	chr11:35160199-35161775	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr11:35160169-35160873	Hela-S3	cervix:	n/a	n/a
20	E2F6	chr11:35159850-35161398	H1-hESC	embryonic stem cell:	n/a	chr11:35160329-35160336 chr11:35160974-35160984 chr11:35160404-35160414 chr11:35160329-35160336 chr11:35160329-35160336
21	POLR2A	chr11:35160005-35162115	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:35160212-35162092	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:35159386-35163856	PANC-1	pancreas:	n/a	n/a
24	CTBP2	chr11:35160070-35161420	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr11:35159955-35161904	NB4	blood:	n/a	chr11:35161193-35161203 chr11:35160823-35160833 chr11:35161717-35161726
26	TCF12	chr11:35160160-35161326	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr11:35160233-35161993	HL-60	blood:	n/a	n/a
28	POLR2A	chr11:35160249-35162402	GM12892	blood:	n/a	n/a
29	CHD1	chr11:35159647-35163874	IMR90	lung:	n/a	n/a
30	MAX	chr11:35160121-35161423	H1-hESC	embryonic stem cell:	n/a	chr11:35161193-35161203 chr11:35160823-35160833
31	MAX	chr11:35159859-35161442	ECC-1	luminal epithelium:	n/a	chr11:35161193-35161203 chr11:35160823-35160833
32	POLR2A	chr11:35159892-35169475	U87	brain:	n/a	n/a
33	ELK4	chr11:35160219-35161270	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr11:35160212-35162140	GM12878	blood:	n/a	n/a
35	ELF1	chr11:35160216-35161548	GM12878	blood:	n/a	chr11:35160779-35160791
36	SMC3	chr11:35159921-35162245	Hela-S3	cervix:	n/a	chr11:35160781-35160791
37	CTCF	chr11:35160164-35160297	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:35159882-35169364	GM12891	blood:	n/a	n/a
39	SMARCC2	chr11:35159962-35160656	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr11:35160180-35160330	GM12872	blood:	n/a	n/a
41	POLR2A	chr11:35160187-35161424	HCT-116	colon:	n/a	n/a
42	POLR2A	chr11:35160060-35161829	HCT-116	colon:	n/a	n/a
43	POLR2A	chr11:35160230-35163769	IMR90	lung:	n/a	n/a
44	POLR2A	chr11:35159651-35162279	GM18505	blood:	n/a	n/a
45	POLR2A	chr11:35159950-35178999	U87	brain:	n/a	n/a
46	RAD21	chr11:35160186-35162198	IMR90	lung:	n/a	n/a
47	MAX	chr11:35159963-35161716	Hela-S3	cervix:	n/a	chr11:35161193-35161203 chr11:35160823-35160833
48	WRNIP1	chr11:35159917-35160471	GM12878	blood:	n/a	n/a
49	RFX5	chr11:35160059-35161866	Hela-S3	cervix:	n/a	n/a
50	TBP	chr11:35160091-35162015	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:35160115..35160765-chr3:73160071..73160621,2	HCT-116	colon:
2	chr11:35159898..35160664-chr9:96928460..96928999,2	Hela-S3	cervix:
3	chr1:11968192..11969146-chr11:35160267..35160843,2	Hela-S3	cervix:
4	chr1:153606580..153607386-chr11:35159581..35160522,2	Hela-S3	cervix:

Variant related genes	Relation type
CD44	TF binding region
ENSG00000255521	TF binding region
ENSG00000272030	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000269946	Chromatin interaction
ENSG00000271853	Chromatin interaction
ENSG00000199347	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12272373	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2553808	1.00[YRI][hapmap]
rs3847614	1.00[MEX][hapmap]
rs60194863	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35158800-35160400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr11:35159200-35160400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr11:35159600-35160400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:35159600-35160400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr11:35159600-35160400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr11:35159600-35160400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:35159600-35160600	Flanking Active TSS	GM12878-XiMat	blood
8	chr11:35159800-35160400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:35159800-35160400	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr11:35159800-35160400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:35159800-35160400	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr11:35159800-35160400	Flanking Active TSS	NH-A	brain
13	chr11:35159800-35160400	Flanking Active TSS	NHDF-Ad	bronchial
14	chr11:35159800-35160400	Flanking Active TSS	Osteobl	bone
15	chr11:35159800-35160600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr11:35159800-35160600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr11:35159800-35160600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr11:35159800-35160600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:35159800-35160600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:35159800-35160600	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr11:35159800-35160600	Bivalent Enhancer	Fetal Brain Male	brain
22	chr11:35159800-35163600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:35159800-35163600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr11:35159800-35165000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:35160000-35160400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:35160000-35160400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr11:35160000-35160400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
28	chr11:35160000-35160400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr11:35160000-35160400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:35160000-35160400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr11:35160000-35160400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:35160000-35160400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
33	chr11:35160000-35160400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
34	chr11:35160000-35160400	Flanking Active TSS	Fetal Lung	lung
35	chr11:35160000-35160400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr11:35160000-35160400	Flanking Active TSS	Pancreas	Pancrea
37	chr11:35160000-35160400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:35160000-35160400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr11:35160000-35160400	Flanking Active TSS	Hela-S3	cervix
40	chr11:35160000-35160400	Flanking Active TSS	HSMM	muscle
41	chr11:35160000-35160400	Flanking Active TSS	NHLF	lung
42	chr11:35160000-35160600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr11:35160000-35160600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:35160000-35160600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr11:35160000-35160600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr11:35160000-35160600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr11:35160000-35160600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr11:35160000-35160600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:35160000-35160600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr11:35160000-35160600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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