Variant report

Variant	esv3449462
Chromosome Location	chr6:33630670-33631183
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33625658..33632208-chr6:33632440..33635133,7	MCF-7	breast:
2	chr6:33480361..33482958-chr6:33629089..33631311,2	K562	blood:
3	chr6:33623872..33628631-chr6:33630927..33635524,5	K562	blood:
4	chr6:33627824..33631151-chr6:33635216..33637671,3	MCF-7	breast:
5	chr6:33626651..33628941-chr6:33628944..33631916,2	MCF-7	breast:
6	chr6:33628674..33633402-chr6:33634889..33637916,6	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199662702	chr6:33630672-33630673	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs149646277	chr6:33630676-33630677	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs368449352	chr6:33630700-33630701	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs141929573	chr6:33630742-33630743	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs560642079	chr6:33630743-33630744	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs527817240	chr6:33630744-33630745	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs549484515	chr6:33630789-33630790	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs370126133	chr6:33630790-33630791	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs71565401	chr6:33630798-33630799	Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs2296338	chr6:33630816-33630817	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531731106	chr6:33630831-33630832	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375410588	chr6:33630832-33630833	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9366827	chr6:33630846-33630847	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs539317556	chr6:33630939-33630940	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557557205	chr6:33630948-33630949	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566313171	chr6:33630955-33630956	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192837965	chr6:33630993-33630994	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535086129	chr6:33631006-33631007	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1536041	chr6:33631017-33631018	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs573608087	chr6:33631023-33631024	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149523308	chr6:33631035-33631036	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374782411	chr6:33631041-33631042	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544203945	chr6:33631044-33631045	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555851667	chr6:33631050-33631051	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147286641	chr6:33631076-33631077	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545695379	chr6:33631091-33631092	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140962379	chr6:33631118-33631119	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527881660	chr6:33631152-33631153	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs5875457	chr6:33631156-33631157	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs386699982	chr6:33631157-33631158	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145998146	chr6:33631158-33631159	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1536039	chr6:33631159-33631160	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1536038	chr6:33631160-33631161	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142982257	chr6:33631161-33631162	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1536037	chr6:33631162-33631163	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs3068491	chr6:33631163-33631164	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
abnormal development	18461090	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
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33602400-33636400	Weak transcription	HSMMtube	muscle
2	chr6:33602600-33631600	Weak transcription	Osteobl	bone
3	chr6:33603400-33640400	Weak transcription	HUVEC	blood vessel
4	chr6:33603400-33641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:33605200-33636400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:33606600-33633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:33606800-33646600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:33608200-33640800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:33611400-33643400	Weak transcription	Left Ventricle	heart
10	chr6:33613000-33659400	Strong transcription	Fetal Intestine Small	intestine
11	chr6:33613200-33660400	Strong transcription	Thymus	Thymus
12	chr6:33613400-33635400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr6:33613600-33635000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr6:33614400-33636200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr6:33615000-33660800	Strong transcription	Fetal Intestine Large	intestine
16	chr6:33616600-33631400	Weak transcription	GM12878-XiMat	blood
17	chr6:33619000-33632800	Strong transcription	NHEK	skin
18	chr6:33619600-33660800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr6:33620000-33632400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:33621000-33659400	Strong transcription	Duodenum Mucosa	Duodenum
21	chr6:33621200-33636200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:33621200-33636400	Strong transcription	Primary T cells from cord blood	blood
23	chr6:33621200-33636400	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:33621400-33635800	Strong transcription	Colonic Mucosa	Colon
25	chr6:33621400-33636400	Strong transcription	Lung	lung
26	chr6:33621400-33643400	Strong transcription	Spleen	Spleen
27	chr6:33621400-33662200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:33621400-33672600	Strong transcription	Dnd41	blood
29	chr6:33622000-33660000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:33622400-33644400	Strong transcription	Gastric	stomach
31	chr6:33623000-33635200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:33623200-33634800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:33623200-33635600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:33623200-33636200	Strong transcription	HMEC	breast
35	chr6:33623200-33649000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr6:33623400-33641000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:33623400-33644000	Strong transcription	Fetal Stomach	stomach
38	chr6:33624200-33636200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:33624200-33639200	Strong transcription	NHLF	lung
40	chr6:33624600-33635800	Weak transcription	HepG2	liver
41	chr6:33624600-33664800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr6:33624800-33639400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:33625200-33634800	Weak transcription	Placenta	Placenta
44	chr6:33625200-33645200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:33625600-33636200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr6:33625800-33632400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr6:33625800-33635600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:33626000-33635200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:33626000-33638600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:33626200-33631800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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