Variant report

Variant	esv3357466
Chromosome Location	chr11:9322376-9326174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9321121..9324155-chr11:9406069..9408356,3	K562	blood:
2	chr11:9316943..9319199-chr11:9321655..9323938,2	K562	blood:
3	chr11:9323308..9325382-chr11:9329913..9332100,2	K562	blood:
4	chr11:9320121..9324688-chr11:9334835..9338165,5	K562	blood:
5	chr11:9320121..9322582-chr11:9335462..9337660,2	K562	blood:
6	chr11:9324025..9326025-chr11:9386165..9388976,2	K562	blood:

Variant related genes	Relation type
ENSG00000205339	chromatin interactions
ENSG00000166471	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138203104	chr11:9322379-9322380	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201642864	chr11:9322390-9322391	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531933250	chr11:9322406-9322407	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs143660123	chr11:9322420-9322421	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs79424830	chr11:9322424-9322425	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs79231138	chr11:9322425-9322426	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs565395154	chr11:9322432-9322433	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs76261468	chr11:9322439-9322440	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs190524322	chr11:9322440-9322441	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs71476825	chr11:9322446-9322447	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368292250	chr11:9322475-9322476	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375745886	chr11:9322496-9322497	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547462585	chr11:9322500-9322501	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567367892	chr11:9322524-9322525	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs542594497	chr11:9322591-9322592	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs183150412	chr11:9322623-9322624	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs549062691	chr11:9322666-9322667	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs548870065	chr11:9322681-9322682	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145924536	chr11:9322685-9322686	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs538060884	chr11:9322690-9322691	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs148236971	chr11:9322699-9322700	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs10770012	chr11:9322713-9322714	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531389387	chr11:9322737-9322738	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs533924258	chr11:9322752-9322753	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs553896907	chr11:9322778-9322779	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs573686895	chr11:9322814-9322815	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs112354711	chr11:9322832-9322833	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs576333396	chr11:9322834-9322835	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs187824554	chr11:9322855-9322856	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192608510	chr11:9322860-9322861	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs150732006	chr11:9322873-9322874	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs568149955	chr11:9322874-9322875	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs10770013	chr11:9322875-9322876	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534104019	chr11:9322887-9322888	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527883145	chr11:9322900-9322901	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs142341795	chr11:9322972-9322973	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371956546	chr11:9322988-9322989	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs146406984	chr11:9323005-9323006	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs36066791	chr11:9323011-9323012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs530059254	chr11:9323036-9323037	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs577381618	chr11:9323042-9323043	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549730734	chr11:9323066-9323067	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs570017429	chr11:9323089-9323090	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs182553543	chr11:9323135-9323136	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs551652606	chr11:9323199-9323200	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs571393727	chr11:9323205-9323206	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs376792044	chr11:9323208-9323209	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533932589	chr11:9323272-9323273	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs376304869	chr11:9323273-9323274	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553905668	chr11:9323325-9323326	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287400-9332600	Weak transcription	HMEC	breast
2	chr11:9287400-9333000	Weak transcription	Gastric	stomach
3	chr11:9287800-9328400	Weak transcription	A549	lung
4	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:9288600-9323200	Weak transcription	Pancreas	Pancrea
6	chr11:9291600-9322600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
8	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
9	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
10	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
11	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:9296800-9333200	Weak transcription	Ovary	ovary
13	chr11:9297000-9322800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:9298200-9323800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:9302200-9324800	Weak transcription	Fetal Brain Male	brain
16	chr11:9302600-9325200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:9302600-9332600	Weak transcription	Esophagus	oesophagus
18	chr11:9302600-9333200	Weak transcription	Spleen	Spleen
19	chr11:9302600-9333400	Weak transcription	Fetal Brain Female	brain
20	chr11:9302600-9333600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:9302600-9334600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:9302600-9334800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:9302800-9334600	Weak transcription	NH-A	brain
24	chr11:9303200-9332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:9303200-9333000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr11:9303400-9334000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:9305800-9332800	Weak transcription	NHDF-Ad	bronchial
28	chr11:9306000-9332600	Weak transcription	Brain Germinal Matrix	brain
29	chr11:9308000-9325000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:9308200-9323000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:9308200-9329200	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:9308200-9332600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:9308200-9334800	Weak transcription	Primary B cells from cord blood	blood
34	chr11:9308400-9324000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:9309400-9333800	Weak transcription	Adipose Nuclei	Adipose
36	chr11:9310000-9328400	Weak transcription	Fetal Heart	heart
37	chr11:9311400-9325000	Weak transcription	Colonic Mucosa	Colon
38	chr11:9311600-9324000	Weak transcription	GM12878-XiMat	blood
39	chr11:9312000-9331800	Weak transcription	HepG2	liver
40	chr11:9312600-9333200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:9312600-9334600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:9315000-9329800	Weak transcription	K562	blood
43	chr11:9316400-9332600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:9317000-9334800	Weak transcription	Placenta	Placenta
45	chr11:9317600-9325200	Weak transcription	Lung	lung
46	chr11:9318600-9323800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:9318600-9329800	Weak transcription	HSMM	muscle
48	chr11:9318800-9332600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:9318800-9333200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr11:9319600-9322800	Weak transcription	Primary T cells from cord blood	blood

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