Variant report

Variant	esv2399081
Chromosome Location	chr6:36069938-36070385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36068703..36074391-chr6:36083766..36088093,5	K562	blood:
2	chr6:36066380..36072646-chr6:36077457..36080962,6	K562	blood:
3	chr6:36069399..36071827-chr6:36084896..36086577,2	K562	blood:
4	chr6:36052124..36054923-chr6:36068952..36071940,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564986394	chr6:36069940-36069941	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368675482	chr6:36069965-36069966	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs851004	chr6:36069972-36069973	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182198197	chr6:36070020-36070021	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559428316	chr6:36070035-36070036	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529799320	chr6:36070043-36070044	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552891089	chr6:36070090-36070091	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371432609	chr6:36070121-36070122	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549639955	chr6:36070163-36070164	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575443340	chr6:36070178-36070179	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567858137	chr6:36070196-36070197	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77139049	chr6:36070207-36070208	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16884857	chr6:36070227-36070228	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs548496435	chr6:36070247-36070248	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571810228	chr6:36070278-36070279	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs41271267	chr6:36070307-36070308	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375959609	chr6:36070321-36070322	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199755941	chr6:36070322-36070323	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200639418	chr6:36070333-36070334	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370881473	chr6:36070338-36070339	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539042681	chr6:36070383-36070384	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36022000-36088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:36051600-36088800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:36051800-36070600	Weak transcription	Pancreas	Pancrea
4	chr6:36051800-36070600	Weak transcription	Psoas Muscle	Psoas
5	chr6:36051800-36070800	Weak transcription	Aorta	Aorta
6	chr6:36051800-36075800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:36052000-36070600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:36052000-36070600	Weak transcription	Brain Angular Gyrus	brain
9	chr6:36052000-36070600	Weak transcription	NHLF	lung
10	chr6:36052000-36070800	Weak transcription	Esophagus	oesophagus
11	chr6:36052000-36075200	Weak transcription	Right Ventricle	heart
12	chr6:36052200-36070600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:36052200-36070800	Weak transcription	Gastric	stomach
14	chr6:36052200-36071400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:36060200-36075000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:36060600-36070600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:36060600-36071400	Weak transcription	Fetal Brain Female	brain
18	chr6:36060600-36080800	Weak transcription	Ovary	ovary
19	chr6:36060800-36072000	Weak transcription	Brain Germinal Matrix	brain
20	chr6:36063000-36074800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:36063200-36070400	Weak transcription	Fetal Kidney	kidney
22	chr6:36063200-36080600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:36063400-36070200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:36063400-36071400	Weak transcription	Fetal Brain Male	brain
25	chr6:36063400-36080600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr6:36063600-36070200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr6:36063600-36070400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:36063600-36080800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:36063800-36071000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:36064400-36070000	Weak transcription	NHEK	skin
31	chr6:36064400-36070800	Weak transcription	Lung	lung
32	chr6:36064600-36076000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:36064800-36070400	Weak transcription	Brain Anterior Caudate	brain
34	chr6:36064800-36070600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:36065000-36070000	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:36065000-36070200	Weak transcription	Left Ventricle	heart
37	chr6:36065000-36070600	Weak transcription	Spleen	Spleen
38	chr6:36065200-36070000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:36065200-36070000	Weak transcription	Liver	Liver
40	chr6:36065200-36070000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr6:36065200-36070000	Weak transcription	Hela-S3	cervix
42	chr6:36065200-36070200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:36065200-36070600	Weak transcription	Colonic Mucosa	Colon
44	chr6:36065400-36070000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:36065400-36070000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr6:36065400-36082600	Weak transcription	Stomach Mucosa	stomach
47	chr6:36065600-36070000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:36065600-36070000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:36065600-36070000	Weak transcription	Placenta	Placenta
50	chr6:36065600-36070000	Weak transcription	NHDF-Ad	bronchial

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