Variant report

Variant	esv14006
Chromosome Location	chr11:36434693-36436965
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	chr11:36429857..36432572-chr11:36436578..36438968,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183324822	chr11:36434697-36434698	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112765624	chr11:36434728-36434729	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570643062	chr11:36434730-36434731	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114830991	chr11:36434736-36434737	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371411152	chr11:36434769-36434770	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541976759	chr11:36434800-36434801	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34066413	chr11:36434805-36434806	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113479676	chr11:36434847-36434848	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140052171	chr11:36434849-36434850	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61084534	chr11:36434857-36434858	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73447224	chr11:36434873-36434874	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs558135918	chr11:36434874-36434875	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543911791	chr11:36434899-36434900	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34096374	chr11:36434914-36434915	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577394895	chr11:36434936-36434937	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546064388	chr11:36434949-36434950	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60892952	chr11:36434960-36434961	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs565434558	chr11:36434968-36434969	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532708031	chr11:36435022-36435023	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528758095	chr11:36435053-36435054	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113388283	chr11:36435086-36435087	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542071903	chr11:36435093-36435094	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71481977	chr11:36435110-36435111	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530392964	chr11:36435131-36435132	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550674647	chr11:36435135-36435136	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570434720	chr11:36435137-36435138	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71459213	chr11:36435141-36435142	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533191469	chr11:36435172-36435173	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs137981349	chr11:36435184-36435185	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35825266	chr11:36435203-36435204	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs71481978	chr11:36435225-36435226	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564605418	chr11:36435250-36435251	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533226403	chr11:36435251-36435252	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547060236	chr11:36435255-36435256	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs202023235	chr11:36435273-36435274	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142605324	chr11:36435280-36435281	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568488779	chr11:36435295-36435296	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537027926	chr11:36435301-36435302	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557462721	chr11:36435309-36435310	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577257705	chr11:36435327-36435328	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200270357	chr11:36435341-36435342	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188580053	chr11:36435366-36435367	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369799749	chr11:36435369-36435370	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144763504	chr11:36435404-36435405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542134657	chr11:36435412-36435413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374032991	chr11:36435504-36435505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376106987	chr11:36435526-36435527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11033604	chr11:36435531-36435532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575226453	chr11:36435557-36435558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543851596	chr11:36435568-36435569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:36403000-36438200	Weak transcription	Ovary	ovary
4	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
6	chr11:36413200-36441600	Weak transcription	HSMMtube	muscle
7	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:36418200-36436800	Weak transcription	Pancreas	Pancrea
9	chr11:36420200-36434800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:36420200-36434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:36420600-36435200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:36420600-36435200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:36421400-36435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:36423400-36441800	Weak transcription	HMEC	breast
16	chr11:36425800-36439000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:36425800-36441400	Weak transcription	Fetal Kidney	kidney
18	chr11:36426200-36435200	Strong transcription	Fetal Intestine Small	intestine
19	chr11:36426400-36435200	Strong transcription	Fetal Intestine Large	intestine
20	chr11:36428000-36435000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:36428200-36435000	Enhancers	Primary hematopoietic stem cells	blood
22	chr11:36428800-36435000	Enhancers	Fetal Thymus	thymus
23	chr11:36429200-36434800	Weak transcription	Stomach Mucosa	stomach
24	chr11:36429600-36436600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:36430000-36434800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr11:36430400-36435000	Enhancers	Brain Substantia Nigra	brain
27	chr11:36431200-36434800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:36431200-36435200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:36431200-36453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:36431400-36435000	Genic enhancers	Primary T cells fromperipheralblood	blood
31	chr11:36431400-36435000	Genic enhancers	Duodenum Mucosa	Duodenum
32	chr11:36432000-36467800	Weak transcription	Esophagus	oesophagus
33	chr11:36432200-36442000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:36432400-36435000	Enhancers	Brain Cingulate Gyrus	brain
35	chr11:36432600-36435000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:36432600-36435200	Enhancers	NH-A	brain
37	chr11:36432600-36436000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:36432600-36452200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:36432800-36435000	Enhancers	Brain Hippocampus Middle	brain
40	chr11:36432800-36440600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr11:36432800-36440600	Weak transcription	NHEK	skin
42	chr11:36433000-36434800	Weak transcription	Lung	lung
43	chr11:36433000-36435000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:36433200-36434800	Enhancers	Primary B cells from cord blood	blood
45	chr11:36433200-36434800	Weak transcription	Colonic Mucosa	Colon
46	chr11:36433200-36435000	Enhancers	Primary B cells from peripheral blood	blood
47	chr11:36433200-36435600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:36433200-36448600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr11:36433400-36434800	Weak transcription	GM12878-XiMat	blood
50	chr11:36433400-36435200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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