Variant report

Variant	esv8401
Chromosome Location	chr6:36331147-36331340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150010981	chr6:36331149-36331150	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565999749	chr6:36331155-36331156	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536553942	chr6:36331157-36331158	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6457901	chr6:36331158-36331159	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374841741	chr6:36331165-36331166	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375908269	chr6:36331166-36331167	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6457902	chr6:36331167-36331168	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370195649	chr6:36331168-36331169	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558821139	chr6:36331175-36331176	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577291773	chr6:36331183-36331184	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534990117	chr6:36331185-36331186	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180882379	chr6:36331187-36331188	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574742027	chr6:36331189-36331190	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs70975147	chr6:36331193-36331194	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7745193	chr6:36331194-36331195	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7745457	chr6:36331199-36331200	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563492562	chr6:36331202-36331203	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs13195995	chr6:36331206-36331207	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs185148285	chr6:36331208-36331209	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs13212136	chr6:36331223-36331224	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs13196007	chr6:36331247-36331248	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs13196008	chr6:36331251-36331252	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs190404498	chr6:36331255-36331256	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs149006061	chr6:36331257-36331258	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs542776615	chr6:36331260-36331261	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs13196299	chr6:36331266-36331267	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs143786285	chr6:36331276-36331277	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs13212260	chr6:36331284-36331285	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs577504180	chr6:36331287-36331288	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs561351365	chr6:36331288-36331289	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs375334983	chr6:36331297-36331298	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs13212270	chr6:36331303-36331304	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs527393359	chr6:36331308-36331309	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs548645090	chr6:36331311-36331312	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs77957655	chr6:36331317-36331318	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs13196110	chr6:36331326-36331327	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs57907451	chr6:36331329-36331330	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs148142313	chr6:36331331-36331332	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung cancer	19153074	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36319800-36334200	Weak transcription	Gastric	stomach
2	chr6:36326600-36334600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:36326800-36354000	Weak transcription	Small Intestine	intestine
4	chr6:36327000-36332600	Weak transcription	HUVEC	blood vessel
5	chr6:36327000-36354000	Weak transcription	Right Atrium	heart
6	chr6:36328400-36335400	Weak transcription	Aorta	Aorta
7	chr6:36328400-36338200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:36328400-36338800	Weak transcription	Esophagus	oesophagus
9	chr6:36328400-36341400	Weak transcription	Brain Anterior Caudate	brain
10	chr6:36328400-36345600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr6:36328400-36351200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:36328400-36353400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:36328600-36332200	Weak transcription	Liver	Liver
14	chr6:36328600-36332600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr6:36328600-36332600	Weak transcription	NH-A	brain
16	chr6:36328600-36333000	Weak transcription	Fetal Heart	heart
17	chr6:36328600-36342800	Weak transcription	Ovary	ovary
18	chr6:36328800-36332400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:36328800-36332400	Weak transcription	Fetal Intestine Large	intestine
20	chr6:36328800-36332600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:36328800-36336200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:36328800-36336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:36328800-36353600	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:36329000-36332600	Weak transcription	Osteobl	bone
25	chr6:36329400-36332400	Weak transcription	GM12878-XiMat	blood
26	chr6:36330200-36331400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:36330200-36331400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr6:36330200-36331400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:36330400-36331200	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr6:36330400-36331200	Strong transcription	Lung	lung
31	chr6:36330400-36331200	Genic enhancers	Spleen	Spleen
32	chr6:36330400-36331400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:36330400-36331400	Enhancers	Primary B cells from cord blood	blood
34	chr6:36330400-36331400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:36330600-36331200	Weak transcription	Stomach Mucosa	stomach
36	chr6:36330600-36331400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:36330800-36331400	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr6:36330800-36331400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr6:36330800-36331400	Enhancers	K562	blood
40	chr6:36331000-36332800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:36331200-36331400	Enhancers	Stomach Mucosa	stomach
42	chr6:36331200-36332400	Weak transcription	Lung	lung
43	chr6:36331200-36332600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:36331200-36332600	Weak transcription	Spleen	Spleen

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