Variant report

Variant	esv2524266
Chromosome Location	chr11:102066175-102067766
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	chr11:102060953..102063076-chr11:102065365..102067692,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12420287	chr11:102066226-102066227	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12421242	chr11:102066240-102066241	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553735652	chr11:102066305-102066306	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116396723	chr11:102066319-102066320	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151009014	chr11:102066339-102066340	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542121934	chr11:102066395-102066396	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539545786	chr11:102066401-102066402	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562004874	chr11:102066456-102066457	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375399182	chr11:102066468-102066469	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572381188	chr11:102066521-102066522	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540586771	chr11:102066531-102066532	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560556333	chr11:102066570-102066571	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554727491	chr11:102066651-102066652	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115652797	chr11:102066678-102066679	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563055910	chr11:102066692-102066693	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562921499	chr11:102066715-102066716	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531834360	chr11:102066864-102066865	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531713662	chr11:102066880-102066881	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140904156	chr11:102066885-102066886	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73582101	chr11:102066895-102066896	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545095157	chr11:102066901-102066902	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564977005	chr11:102066943-102066944	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12795624	chr11:102066955-102066956	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547047443	chr11:102066956-102066957	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144759109	chr11:102066966-102066967	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7106107	chr11:102066975-102066976	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs556251498	chr11:102067022-102067023	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146734088	chr11:102067023-102067024	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535606486	chr11:102067169-102067170	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555605939	chr11:102067230-102067231	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182422050	chr11:102067259-102067260	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541334762	chr11:102067272-102067273	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140351284	chr11:102067304-102067305	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375478274	chr11:102067355-102067356	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138723014	chr11:102067356-102067357	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78955602	chr11:102067373-102067374	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577198915	chr11:102067381-102067382	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79931190	chr11:102067404-102067405	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559778167	chr11:102067415-102067416	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531698660	chr11:102067445-102067446	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199546119	chr11:102067460-102067461	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548325477	chr11:102067501-102067502	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561963596	chr11:102067513-102067514	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73583907	chr11:102067551-102067552	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529152327	chr11:102067611-102067612	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114886002	chr11:102067634-102067635	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548103510	chr11:102067685-102067686	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570330432	chr11:102067712-102067713	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369132014	chr11:102067740-102067741	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	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
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102029200-102067600	Weak transcription	HSMMtube	muscle
2	chr11:102034600-102076800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:102036000-102069400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:102043800-102077000	Weak transcription	Esophagus	oesophagus
5	chr11:102043800-102100400	Weak transcription	Pancreas	Pancrea
6	chr11:102046800-102076600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:102048400-102073600	Weak transcription	Psoas Muscle	Psoas
8	chr11:102048400-102077200	Weak transcription	Lung	lung
9	chr11:102050400-102076600	Weak transcription	Placenta	Placenta
10	chr11:102051400-102076600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:102052000-102076600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:102056000-102078400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:102056200-102074800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:102057200-102066800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:102058200-102067000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:102058200-102076800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:102058600-102068200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:102058800-102067200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:102059200-102067600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:102059600-102068800	Weak transcription	Fetal Kidney	kidney
21	chr11:102059600-102100400	Weak transcription	Gastric	stomach
22	chr11:102061400-102073400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:102062800-102076600	Weak transcription	Fetal Stomach	stomach
24	chr11:102062800-102076600	Weak transcription	Left Ventricle	heart
25	chr11:102062800-102096400	Weak transcription	Small Intestine	intestine
26	chr11:102063000-102067600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:102063000-102076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:102063200-102066400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:102063200-102066800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:102063200-102067200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:102063200-102069800	Strong transcription	HSMM	muscle
32	chr11:102063400-102067000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr11:102063600-102069400	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:102063800-102067000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:102063800-102067200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:102063800-102067200	Weak transcription	Adipose Nuclei	Adipose
37	chr11:102063800-102073400	Weak transcription	NHLF	lung
38	chr11:102063800-102076600	Weak transcription	Liver	Liver
39	chr11:102063800-102096600	Weak transcription	Stomach Mucosa	stomach
40	chr11:102064000-102066600	Weak transcription	NHDF-Ad	bronchial
41	chr11:102064000-102068200	Weak transcription	HMEC	breast
42	chr11:102064000-102068600	Weak transcription	Ovary	ovary
43	chr11:102064000-102075200	Weak transcription	Fetal Intestine Large	intestine
44	chr11:102064000-102094400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:102064000-102105400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:102064400-102067200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:102064600-102066200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:102064600-102067800	Weak transcription	Fetal Heart	heart
49	chr11:102064800-102066600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:102065000-102067000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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