Variant report

Variant	esv3471530
Chromosome Location	chr11:85502547-85504364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85451589..85453294-chr11:85503015..85505521,2	MCF-7	breast:
2	chr11:85498273..85503366-chr11:85519717..85522661,4	MCF-7	breast:
3	chr11:85498596..85501335-chr11:85503277..85506265,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137501	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11599980	chr11:85502581-85502582	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540094809	chr11:85502590-85502591	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs374228073	chr11:85502594-85502595	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565615147	chr11:85502620-85502621	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536075011	chr11:85502644-85502645	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554432807	chr11:85502662-85502663	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527415352	chr11:85502715-85502716	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558154991	chr11:85502731-85502732	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138755668	chr11:85502773-85502774	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547532768	chr11:85502811-85502812	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576954812	chr11:85502814-85502815	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs56972871	chr11:85502823-85502824	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567214564	chr11:85502900-85502901	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs142536952	chr11:85502964-85502965	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs561298285	chr11:85502966-85502967	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs534182740	chr11:85502983-85502984	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116244136	chr11:85503000-85503001	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549968842	chr11:85503004-85503005	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565373143	chr11:85503061-85503062	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532396830	chr11:85503070-85503071	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192334012	chr11:85503106-85503107	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565651365	chr11:85503119-85503120	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536112246	chr11:85503206-85503207	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs146851538	chr11:85503226-85503227	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569711203	chr11:85503240-85503241	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs537241251	chr11:85503251-85503252	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558415319	chr11:85503280-85503281	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183306904	chr11:85503296-85503297	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534639939	chr11:85503306-85503307	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188754324	chr11:85503328-85503329	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12792050	chr11:85503335-85503336	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs542906501	chr11:85503347-85503348	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561543012	chr11:85503379-85503380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7123846	chr11:85503460-85503461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs372962089	chr11:85503484-85503485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543971577	chr11:85503496-85503497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139306296	chr11:85503524-85503525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114965831	chr11:85503576-85503577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34575906	chr11:85503661-85503662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397949947	chr11:85503671-85503672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182806948	chr11:85503759-85503760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559273842	chr11:85503778-85503779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529948141	chr11:85503795-85503796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186775602	chr11:85503819-85503820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34611629	chr11:85503820-85503821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570577697	chr11:85503845-85503846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7124300	chr11:85503885-85503886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545223416	chr11:85503897-85503898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568022332	chr11:85503941-85503942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535423447	chr11:85503963-85503964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Cancer	17440070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85491800-85517800	Weak transcription	NHLF	lung
2	chr11:85492200-85502800	Weak transcription	Small Intestine	intestine
3	chr11:85496400-85510600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:85498800-85503200	Weak transcription	Colonic Mucosa	Colon
5	chr11:85499200-85510400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:85499200-85517200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:85499400-85503400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr11:85499400-85505600	Weak transcription	Primary T cells from cord blood	blood
9	chr11:85499600-85503000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:85499800-85502800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:85499800-85517400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:85500000-85502600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:85501200-85503400	Enhancers	Fetal Intestine Large	intestine
14	chr11:85501200-85503400	Enhancers	Stomach Mucosa	stomach
15	chr11:85501600-85503400	Enhancers	Fetal Intestine Small	intestine
16	chr11:85501600-85503400	Enhancers	A549	lung
17	chr11:85502000-85503000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:85502400-85503000	Enhancers	HSMMtube	muscle
19	chr11:85502400-85503200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:85502400-85503400	Enhancers	Duodenum Mucosa	Duodenum
21	chr11:85502600-85503400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:85502800-85503400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr11:85502800-85503400	Enhancers	Small Intestine	intestine
24	chr11:85503000-85503400	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:85503000-85503600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr11:85503200-85503400	Enhancers	Fetal Muscle Leg	muscle
27	chr11:85503200-85511800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:85503400-85504600	Weak transcription	A549	lung
29	chr11:85503400-85505000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:85503400-85505200	Weak transcription	Stomach Mucosa	stomach
31	chr11:85503400-85506800	Weak transcription	Fetal Intestine Small	intestine
32	chr11:85503400-85506800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr11:85503400-85507000	Weak transcription	Fetal Intestine Large	intestine
34	chr11:85503400-85509600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:85503400-85509800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:85503400-85510800	Weak transcription	Small Intestine	intestine
37	chr11:85503400-85513200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:85503400-85516400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:85503600-85505600	Weak transcription	Rectal Mucosa Donor 29	rectum

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