Variant report

Variant	rs73453629
Chromosome Location	chr11:35162035-35162036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:35162000-35162150	HMF	breast:	n/a	n/a
2	POLR2A	chr11:35160323-35162347	GM12878	blood:	n/a	n/a
3	CTCF	chr11:35162020-35162170	GM12871	blood:	n/a	n/a
4	POLR2A	chr11:35160288-35162443	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:35159893-35163743	Hela-S3	cervix:	n/a	n/a
6	MXI1	chr11:35159789-35167151	IMR90	lung:	n/a	n/a
7	POLR2A	chr11:35160308-35162535	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:35158320-35197578	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr11:35160005-35162115	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:35160212-35162092	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:35159386-35163856	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:35160249-35162402	GM12892	blood:	n/a	n/a
13	POLR2A	chr11:35160304-35162246	GM19099	blood:	n/a	n/a
14	CHD1	chr11:35159647-35163874	IMR90	lung:	n/a	n/a
15	POLR2A	chr11:35159892-35169475	U87	brain:	n/a	n/a
16	POLR2A	chr11:35160212-35162140	GM12878	blood:	n/a	n/a
17	SMC3	chr11:35159921-35162245	Hela-S3	cervix:	n/a	chr11:35160781-35160791
18	POLR2A	chr11:35159882-35169364	GM12891	blood:	n/a	n/a
19	CTCF	chr11:35162000-35162150	AG10803	skin:	n/a	n/a
20	POLR2A	chr11:35160230-35163769	IMR90	lung:	n/a	n/a
21	POLR2A	chr11:35159651-35162279	GM18505	blood:	n/a	n/a
22	POLR2A	chr11:35159950-35178999	U87	brain:	n/a	n/a
23	RAD21	chr11:35160186-35162198	IMR90	lung:	n/a	n/a
24	POLR2A	chr11:35160199-35163808	U87	brain:	n/a	n/a
25	POLR2A	chr11:35159686-35169512	GM12892	blood:	n/a	n/a
26	GATA1	chr11:35160332-35162919	PBDE	blood:	n/a	n/a
27	POLR2A	chr11:35160185-35162272	MCF10A-Er-Src	breast:	n/a	n/a
28	RELA	chr11:35160233-35162069	GM18951	blood:	n/a	n/a
29	POLR2A	chr11:35159772-35163754	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:35160329-35163508	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:35159736-35164647	GM12892	blood:	n/a	n/a
32	POLR2A	chr11:35161938-35162326	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr11:35161860-35162130	BJ	skin:	n/a	n/a
34	POLR2A	chr11:35160193-35163242	PBDE	blood:	n/a	n/a
35	POLR2A	chr11:35160329-35162055	GM18526	blood:	n/a	n/a
36	MAZ	chr11:35159804-35162279	IMR90	lung:	n/a	chr11:35160823-35160833 chr11:35161717-35161726
37	POLR2A	chr11:35160293-35162118	GM12891	blood:	n/a	n/a
38	POLR2A	chr11:35159692-35163784	GM12892	blood:	n/a	n/a
39	POLR2A	chr11:35160219-35163808	U87	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:35161963..35164830-chr11:35383993..35385550,2	MCF-7	breast:
2	chr11:35059235..35060888-chr11:35161011..35163300,2	MCF-7	breast:
3	chr11:35160960..35162794-chr11:35186248..35188654,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255521	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs59799056	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs919041	0.90[AMR][1000 genomes];1.00[ASN][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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35159800-35163600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:35159800-35163600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr11:35159800-35165000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:35160000-35163400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:35160000-35163600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr11:35160200-35162200	Active TSS	Colon Smooth Muscle	Colon
7	chr11:35160200-35162800	Active TSS	A549	lung
8	chr11:35160200-35163000	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr11:35160200-35163600	Active TSS	Brain Substantia Nigra	brain
10	chr11:35160200-35165000	Active TSS	Rectal Smooth Muscle	rectum
11	chr11:35160200-35170200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:35160400-35162200	Active TSS	NHDF-Ad	bronchial
13	chr11:35160400-35162600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:35160400-35162600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:35160400-35162600	Active TSS	Primary T cells from cord blood	blood
16	chr11:35160400-35162600	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr11:35160400-35162600	Active TSS	Osteobl	bone
18	chr11:35160400-35162800	Active TSS	HSMM	muscle
19	chr11:35160400-35163000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:35160400-35163000	Active TSS	Aorta	Aorta
21	chr11:35160400-35163200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:35160400-35163200	Active TSS	Pancreas	Pancrea
23	chr11:35160400-35163200	Active TSS	Small Intestine	intestine
24	chr11:35160400-35163400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:35160400-35163400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:35160400-35163400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:35160400-35164000	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr11:35160400-35164000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:35160600-35162400	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr11:35160600-35162400	Active TSS	Primary T cells fromperipheralblood	blood
31	chr11:35160600-35162400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr11:35160600-35162400	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr11:35160600-35162600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr11:35160600-35162600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:35160600-35162800	Active TSS	Monocytes-CD14+_RO01746	blood
36	chr11:35160600-35164200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:35160800-35162200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
38	chr11:35160800-35162800	Active TSS	Colonic Mucosa	Colon
39	chr11:35161000-35163400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:35161200-35162200	Transcr. at gene 5' and 3'	NHLF	lung
41	chr11:35161200-35162400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:35161200-35163600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr11:35161200-35163600	Flanking Active TSS	Dnd41	blood
44	chr11:35161200-35163800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:35161200-35163800	Flanking Active TSS	Fetal Thymus	thymus
46	chr11:35161200-35164200	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr11:35161200-35164600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:35161200-35165200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:35161200-35197400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
50	chr11:35161400-35162200	Flanking Active TSS	Fetal Lung	lung

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