Variant report

Variant	esv3468596
Chromosome Location	chr11:9525726-9526863
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9526683..9529040-chr11:9771305..9773861,2	K562	blood:
2	chr11:9480912..9484218-chr11:9526454..9530428,5	K562	blood:

Variant related genes	Relation type
ENSG00000268403	chromatin interactions
ENSG00000166478	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543920817	chr11:9525754-9525755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564103411	chr11:9525797-9525798	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532918157	chr11:9525798-9525799	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540932968	chr11:9525807-9525808	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146518024	chr11:9525863-9525864	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529529082	chr11:9525879-9525880	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187375312	chr11:9525920-9525921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569281450	chr11:9525931-9525932	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539464827	chr11:9525963-9525964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368453255	chr11:9526006-9526007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191977174	chr11:9526012-9526013	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551543242	chr11:9526022-9526023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7123214	chr11:9526105-9526106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141084974	chr11:9526106-9526107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74541265	chr11:9526126-9526127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12275665	chr11:9526212-9526213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12293808	chr11:9526213-9526214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552861313	chr11:9526224-9526225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201748353	chr11:9526225-9526226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12275669	chr11:9526226-9526227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs535291467	chr11:9526248-9526249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555532227	chr11:9526267-9526268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575289652	chr11:9526293-9526294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs180719092	chr11:9526310-9526311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373313820	chr11:9526324-9526325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565902697	chr11:9526368-9526369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540202450	chr11:9526372-9526373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12293911	chr11:9526410-9526411	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs185162642	chr11:9526467-9526468	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs181896360	chr11:9526483-9526484	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs189819060	chr11:9526493-9526494	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs185767319	chr11:9526500-9526501	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs182473532	chr11:9526515-9526516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs111642415	chr11:9526522-9526523	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs188132861	chr11:9526569-9526570	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191819802	chr11:9526598-9526599	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs556137820	chr11:9526696-9526697	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563106156	chr11:9526738-9526739	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs531763466	chr11:9526752-9526753	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs537192071	chr11:9526777-9526778	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs373780094	chr11:9526782-9526783	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183431377	chr11:9526786-9526787	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs376981847	chr11:9526787-9526788	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs150917209	chr11:9526798-9526799	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs143301192	chr11:9526799-9526800	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs566961280	chr11:9526855-9526856	Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs143424079	chr11:9526856-9526857	Weak transcription Genic enhancers Strong transcription	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:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
5	chr11:9496600-9528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:9499200-9526000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:9501800-9534000	Weak transcription	Psoas Muscle	Psoas
8	chr11:9511600-9527800	Weak transcription	Hela-S3	cervix
9	chr11:9511600-9528200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:9511600-9528400	Weak transcription	NHLF	lung
11	chr11:9515400-9525800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:9515800-9525800	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr11:9518600-9530000	Weak transcription	NHEK	skin
14	chr11:9518800-9534000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:9519200-9532000	Weak transcription	NHDF-Ad	bronchial
16	chr11:9519200-9534200	Weak transcription	Fetal Brain Female	brain
17	chr11:9519600-9525800	Strong transcription	Brain Germinal Matrix	brain
18	chr11:9520600-9528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:9520600-9530000	Weak transcription	Stomach Mucosa	stomach
20	chr11:9520600-9532200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:9520800-9528200	Weak transcription	A549	lung
22	chr11:9521000-9545200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:9521200-9528200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:9521400-9526800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:9521400-9527800	Strong transcription	Fetal Intestine Small	intestine
26	chr11:9521600-9532200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr11:9521800-9530200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:9522000-9525800	Strong transcription	Fetal Intestine Large	intestine
29	chr11:9522000-9530400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:9522600-9525800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr11:9523000-9534000	Weak transcription	HMEC	breast
32	chr11:9523200-9528000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:9523200-9528200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:9523200-9530200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:9523200-9530200	Weak transcription	HUVEC	blood vessel
36	chr11:9523400-9526800	Weak transcription	Lung	lung
37	chr11:9523400-9528000	Weak transcription	Brain Anterior Caudate	brain
38	chr11:9523400-9528000	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:9523400-9528000	Weak transcription	Fetal Kidney	kidney
40	chr11:9523400-9528000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:9523400-9528000	Weak transcription	HepG2	liver
42	chr11:9523400-9528200	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:9523400-9528200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:9523400-9528200	Weak transcription	Fetal Heart	heart
45	chr11:9523400-9528200	Weak transcription	Fetal Lung	lung
46	chr11:9523400-9528200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr11:9523400-9528400	Weak transcription	HSMMtube	muscle
48	chr11:9523400-9528600	Weak transcription	Dnd41	blood
49	chr11:9523400-9528800	Weak transcription	GM12878-XiMat	blood
50	chr11:9523400-9529000	Weak transcription	Primary B cells from cord blood	blood

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