Variant report

Variant	rs11033008
Chromosome Location	chr11:35163114-35163115
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	POLR2A	chr11:35162808-35163647	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:35159893-35163743	Hela-S3	cervix:	n/a	n/a
3	EBF1	chr11:35162845-35163261	GM12878	blood:	n/a	chr11:35163043-35163056 chr11:35163043-35163054 chr11:35163045-35163055
4	MXI1	chr11:35159789-35167151	IMR90	lung:	n/a	n/a
5	POLR2A	chr11:35162699-35163652	HL-60	blood:	n/a	n/a
6	POLR2A	chr11:35158320-35197578	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:35159386-35163856	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr11:35162626-35163737	GM12891	blood:	n/a	n/a
9	SPI1	chr11:35163052-35163411	GM12891	blood:	n/a	chr11:35163260-35163273 chr11:35163263-35163270
10	CHD1	chr11:35159647-35163874	IMR90	lung:	n/a	n/a
11	POLR2A	chr11:35159892-35169475	U87	brain:	n/a	n/a
12	POLR2A	chr11:35159882-35169364	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:35162930-35163713	GM12891	blood:	n/a	n/a
14	POLR2A	chr11:35160230-35163769	IMR90	lung:	n/a	n/a
15	POLR2A	chr11:35159950-35178999	U87	brain:	n/a	n/a
16	ZNF143	chr11:35163000-35163326	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:35160199-35163808	U87	brain:	n/a	n/a
18	SMC3	chr11:35162794-35163205	GM12878	blood:	n/a	chr11:35163079-35163093 chr11:35163026-35163034
19	POLR2A	chr11:35159686-35169512	GM12892	blood:	n/a	n/a
20	SPI1	chr11:35163111-35163411	GM12878	blood:	n/a	chr11:35163260-35163273 chr11:35163263-35163270
21	CTCF	chr11:35162923-35163234	GM12878	blood:	n/a	chr11:35163024-35163033 chr11:35163072-35163093
22	RAD21	chr11:35162612-35163418	IMR90	lung:	n/a	chr11:35163075-35163094 chr11:35163077-35163089
23	POLR2A	chr11:35162504-35163750	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:35163114-35163684	GM12878	blood:	n/a	n/a
25	EBF1	chr11:35162824-35163452	GM12878	blood:	n/a	chr11:35163043-35163056 chr11:35163043-35163054 chr11:35163045-35163055
26	POLR2A	chr11:35159772-35163754	Hela-S3	cervix:	n/a	n/a
27	TCF7L2	chr11:35163030-35163546	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr11:35160329-35163508	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chr11:35162896-35163493	NB4	blood:	n/a	chr11:35163313-35163323
30	POLR2A	chr11:35163089-35163746	HCT-116	colon:	n/a	n/a
31	POLR2A	chr11:35162471-35163572	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:35159736-35164647	GM12892	blood:	n/a	n/a
33	POLR2A	chr11:35160193-35163242	PBDE	blood:	n/a	n/a
34	POLR2A	chr11:35163107-35163544	MCF10A-Er-Src	breast:	n/a	n/a
35	EBF1	chr11:35162608-35163377	GM12878	blood:	n/a	chr11:35163043-35163056 chr11:35163043-35163054 chr11:35163045-35163055
36	POLR2A	chr11:35159692-35163784	GM12892	blood:	n/a	n/a
37	POLR2A	chr11:35160219-35163808	U87	brain:	n/a	n/a
38	SIN3AK20	chr11:35163060-35163699	PANC-1	pancreas:	n/a	n/a
39	SPI1	chr11:35162945-35163649	HL-60	blood:	n/a	chr11:35163422-35163435 chr11:35163260-35163273 chr11:35163263-35163270
40	POLR2A	chr11:35162144-35163703	GM12891	blood:	n/a	n/a
41	POLR2A	chr11:35163053-35163592	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:35026967..35028548-chr11:35162664..35165084,2	MCF-7	breast:
2	chr11:35161963..35164830-chr11:35383993..35385550,2	MCF-7	breast:
3	chr11:35059235..35060888-chr11:35161011..35163300,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255521	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11033004	1.00[ASN][1000 genomes]
rs12362140	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362973	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs353619	0.81[MEX][hapmap]
rs4756192	0.91[AMR][1000 genomes];0.92[EUR][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:95 , 50 per page) page: 1 2

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	chr11:35160200-35163600	Active TSS	Brain Substantia Nigra	brain
7	chr11:35160200-35165000	Active TSS	Rectal Smooth Muscle	rectum
8	chr11:35160200-35170200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr11:35160400-35163200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:35160400-35163200	Active TSS	Pancreas	Pancrea
11	chr11:35160400-35163200	Active TSS	Small Intestine	intestine
12	chr11:35160400-35163400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:35160400-35163400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:35160400-35163400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:35160400-35164000	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr11:35160400-35164000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr11:35160600-35164200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:35161000-35163400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:35161200-35163600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr11:35161200-35163600	Flanking Active TSS	Dnd41	blood
21	chr11:35161200-35163800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:35161200-35163800	Flanking Active TSS	Fetal Thymus	thymus
23	chr11:35161200-35164200	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr11:35161200-35164600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:35161200-35165200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:35161200-35197400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
27	chr11:35161400-35163600	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr11:35161400-35163600	Transcr. at gene 5' and 3'	HMEC	breast
29	chr11:35161400-35163800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr11:35161400-35164000	Transcr. at gene 5' and 3'	NHEK	skin
31	chr11:35161400-35166000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:35161400-35166800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr11:35161600-35163400	Flanking Active TSS	Hela-S3	cervix
34	chr11:35161600-35163600	Active TSS	Liver	Liver
35	chr11:35161600-35163600	Active TSS	Brain Angular Gyrus	brain
36	chr11:35161600-35163600	Active TSS	Brain Cingulate Gyrus	brain
37	chr11:35161600-35163600	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr11:35161600-35167400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr11:35161800-35163200	Active TSS	Esophagus	oesophagus
40	chr11:35161800-35163200	Active TSS	Placenta	Placenta
41	chr11:35161800-35163200	Active TSS	GM12878-XiMat	blood
42	chr11:35161800-35163400	Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr11:35161800-35163600	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr11:35161800-35163600	Active TSS	Right Atrium	heart
45	chr11:35161800-35164000	Active TSS	Adipose Nuclei	Adipose
46	chr11:35161800-35164200	Active TSS	Brain Hippocampus Middle	brain
47	chr11:35161800-35164200	Active TSS	Right Ventricle	heart
48	chr11:35161800-35165000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:35162000-35163200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:35162000-35163200	Weak transcription	Psoas Muscle	Psoas

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