Variant report

Variant	esv3427950
Chromosome Location	chr11:77488129-77490677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:77487322..77488236-chr11:77710718..77711403,3	K562	blood:
2	chr11:77487589..77488179-chr11:77757001..77757881,4	K562	blood:
3	chr11:77488267..77490535-chr11:77493652..77495345,2	K562	blood:
4	chr11:77487445..77490849-chr11:77530264..77533102,3	MCF-7	breast:
5	chr11:77467587..77469743-chr11:77490078..77492940,2	K562	blood:
6	chr11:77488328..77491203-chr11:77709162..77710811,2	K562	blood:

Variant related genes	Relation type
ENSG00000087884	chromatin interactions
ENSG00000048649	chromatin interactions
ENSG00000151364	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141971674	chr11:77488178-77488179	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs568853399	chr11:77488204-77488205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537588360	chr11:77488209-77488210	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554251511	chr11:77488241-77488242	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374415269	chr11:77488300-77488301	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs574047073	chr11:77488390-77488391	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183553957	chr11:77488408-77488409	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs150076228	chr11:77488409-77488410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs112833975	chr11:77488430-77488431	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187695511	chr11:77488431-77488432	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs541210037	chr11:77488469-77488470	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs190670787	chr11:77488470-77488471	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs544673193	chr11:77488483-77488484	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561391235	chr11:77488494-77488495	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs530084771	chr11:77488508-77488509	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs547053161	chr11:77488509-77488510	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560599112	chr11:77488512-77488513	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs370911291	chr11:77488533-77488534	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532884497	chr11:77488564-77488565	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs552484493	chr11:77488575-77488576	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs531710255	chr11:77488592-77488593	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111814410	chr11:77488604-77488605	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183537034	chr11:77488618-77488619	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs374539054	chr11:77488634-77488635	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs538051730	chr11:77488635-77488636	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs549825218	chr11:77488692-77488693	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs547850958	chr11:77488700-77488701	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567829990	chr11:77488786-77488787	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533528893	chr11:77488806-77488807	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs2154973	chr11:77488809-77488810	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs2154972	chr11:77488825-77488826	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs539680369	chr11:77488950-77488951	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs148861134	chr11:77488983-77488984	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs75590448	chr11:77488996-77488997	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs140620797	chr11:77489004-77489005	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs542062823	chr11:77489141-77489142	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs138973870	chr11:77489163-77489164	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs56095840	chr11:77489167-77489168	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs55906442	chr11:77489170-77489171	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs192981587	chr11:77489213-77489214	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs538447428	chr11:77489333-77489334	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143489651	chr11:77489375-77489376	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575017889	chr11:77489460-77489461	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138056216	chr11:77489476-77489477	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs536903734	chr11:77489527-77489528	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs560572605	chr11:77489556-77489557	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs112173643	chr11:77489578-77489579	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12364072	chr11:77489608-77489609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs546428537	chr11:77489629-77489630	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs575714363	chr11:77489638-77489639	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	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
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	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
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17142309	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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77442800-77500200	Weak transcription	Pancreas	Pancrea
2	chr11:77443200-77500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:77459400-77498200	Weak transcription	NHEK	skin
4	chr11:77460000-77495800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr11:77462200-77500200	Weak transcription	Gastric	stomach
6	chr11:77463800-77527000	Weak transcription	Aorta	Aorta
7	chr11:77465200-77500200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:77467000-77500200	Weak transcription	Esophagus	oesophagus
9	chr11:77475200-77495600	Weak transcription	Fetal Intestine Large	intestine
10	chr11:77475200-77498000	Weak transcription	HMEC	breast
11	chr11:77475200-77501600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:77475200-77502600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:77475200-77527800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:77475400-77489000	Weak transcription	HSMM	muscle
15	chr11:77475400-77489600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:77475400-77490800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:77475400-77495800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:77475400-77500400	Weak transcription	Lung	lung
19	chr11:77475400-77500600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:77475400-77501800	Weak transcription	Thymus	Thymus
21	chr11:77475400-77502400	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:77475400-77504200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:77475400-77522000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr11:77475400-77529000	Weak transcription	NHLF	lung
25	chr11:77475400-77530000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:77475600-77491000	Weak transcription	NH-A	brain
27	chr11:77475600-77495200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:77475600-77498000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:77475600-77498200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:77475600-77500200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:77475600-77511600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr11:77475600-77511600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:77475800-77491000	Weak transcription	Fetal Brain Female	brain
34	chr11:77475800-77494400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:77475800-77510400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:77475800-77522000	Weak transcription	Hela-S3	cervix
37	chr11:77476800-77495800	Weak transcription	Small Intestine	intestine
38	chr11:77478400-77489600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:77478600-77498600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:77478800-77491200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:77478800-77495600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:77481200-77488800	Weak transcription	Brain Angular Gyrus	brain
43	chr11:77482400-77489000	Weak transcription	Stomach Mucosa	stomach
44	chr11:77482400-77490000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:77482600-77489400	Weak transcription	Brain Substantia Nigra	brain
46	chr11:77482600-77489600	Weak transcription	K562	blood
47	chr11:77482600-77495200	Weak transcription	Fetal Thymus	thymus
48	chr11:77482600-77495600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:77482600-77500200	Weak transcription	Right Ventricle	heart
50	chr11:77482600-77509800	Weak transcription	Adipose Nuclei	Adipose

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