Variant report

Variant	esv3325637
Chromosome Location	chr6:45519674-45523972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45345547..45347304-chr6:45521269..45524195,2	MCF-7	breast:
2	chr6:45519509..45521013-chr6:45524867..45526966,2	K562	blood:
3	chr6:45519041..45522740-chr6:45522801..45525463,3	MCF-7	breast:
4	chr6:45388475..45392653-chr6:45521512..45524033,4	MCF-7	breast:
5	chr6:45519041..45522740-chr6:45522801..45525463,3	MCF-7	breast:
6	chr6:45389558..45391981-chr6:45519430..45521358,2	MCF-7	breast:
7	chr6:45521508..45523893-chr6:45680263..45683412,3	MCF-7	breast:
8	chr6:45517438..45520580-chr6:45520902..45524408,4	MCF-7	breast:
9	chr6:45521062..45522747-chr6:45524709..45527300,2	K562	blood:
10	chr6:45522194..45524124-chr6:45553960..45556019,2	MCF-7	breast:
11	chr6:45514521..45516700-chr6:45519579..45523207,3	MCF-7	breast:
12	chr6:45390030..45390535-chr6:45522448..45522980,2	MCF-7	breast:
13	chr6:45506273..45508464-chr6:45523681..45526573,2	MCF-7	breast:
14	chr6:45521600..45524007-chr6:45539938..45542034,2	MCF-7	breast:
15	chr6:45521858..45524563-chr6:45528701..45531108,3	MCF-7	breast:
16	chr6:45510384..45512325-chr6:45518225..45520271,2	MCF-7	breast:
17	chr6:45490175..45491700-chr6:45519334..45521574,2	MCF-7	breast:
18	chr6:45517438..45520580-chr6:45520902..45524408,4	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUPT3H-1	chr6:45523580-45524895	XLOC_005737
2	lnc-SUPT3H-1	chr6:45523580-45524895	XLOC_005737

No data

Variant related genes	Relation type
ENSG00000124813	chromatin interactions
ENSG00000196284	chromatin interactions
ENSG00000271857	chromatin interactions
FAM102A	miRNA target sites

Extended variants
information (count: 186 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546857745	chr6:45519710-45519711	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs112524861	chr6:45519757-45519758	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs548703954	chr6:45519759-45519760	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs564948611	chr6:45519792-45519793	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs78425603	chr6:45519816-45519817	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs114843907	chr6:45519866-45519867	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs185184112	chr6:45519894-45519895	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs146328923	chr6:45519901-45519902	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs139543960	chr6:45519914-45519915	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs144213608	chr6:45519933-45519934	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs534931889	chr6:45519934-45519935	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs190399870	chr6:45519954-45519955	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs577715487	chr6:45519957-45519958	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532226216	chr6:45519976-45519977	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533718641	chr6:45519988-45519989	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs537894866	chr6:45519989-45519990	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs9463094	chr6:45520005-45520006	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs386700779	chr6:45520030-45520031	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs73737467	chr6:45520031-45520032	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573062545	chr6:45520038-45520039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs540530071	chr6:45520088-45520089	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs565286652	chr6:45520096-45520097	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs181674702	chr6:45520099-45520100	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550593609	chr6:45520112-45520113	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs186381120	chr6:45520113-45520114	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs146536561	chr6:45520114-45520115	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs550200536	chr6:45520125-45520126	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548357150	chr6:45520158-45520159	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs567462212	chr6:45520174-45520175	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs190777432	chr6:45520181-45520182	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs112414992	chr6:45520281-45520282	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs571608269	chr6:45520282-45520283	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs554430537	chr6:45520290-45520291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs574254470	chr6:45520332-45520333	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs9463095	chr6:45520398-45520399	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs180889794	chr6:45520412-45520413	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148484231	chr6:45520413-45520414	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs373539645	chr6:45520419-45520420	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs78003355	chr6:45520421-45520422	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs142643611	chr6:45520453-45520454	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs184912448	chr6:45520459-45520460	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs9472500	chr6:45520460-45520461	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540468881	chr6:45520533-45520534	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs6911631	chr6:45520572-45520573	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576447834	chr6:45520579-45520580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs544549418	chr6:45520657-45520658	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs114292019	chr6:45520660-45520661	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs191184152	chr6:45520673-45520674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs9472501	chr6:45520719-45520720	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs55786968	chr6:45520725-45520726	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
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
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	21510904	CNVD
Cleidocranial dysplasia	20014132	CNVD
Non-small cell lung cancer	17429853	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45465000-45521600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr6:45489000-45521800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr6:45506800-45523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:45508200-45521600	Weak transcription	Primary T cells from cord blood	blood
5	chr6:45508200-45530600	Weak transcription	Psoas Muscle	Psoas
6	chr6:45508600-45522400	Weak transcription	Fetal Thymus	thymus
7	chr6:45508800-45523400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr6:45512000-45524000	Weak transcription	NHEK	skin
9	chr6:45512400-45523400	Weak transcription	Brain Substantia Nigra	brain
10	chr6:45512400-45523400	Weak transcription	HMEC	breast
11	chr6:45512600-45521600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:45512800-45520200	Weak transcription	Ovary	ovary
13	chr6:45515000-45521600	Weak transcription	Gastric	stomach
14	chr6:45515400-45522400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:45515400-45523400	Weak transcription	HSMMtube	muscle
16	chr6:45515600-45520600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr6:45515600-45521200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:45515600-45521600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr6:45515600-45521600	Weak transcription	Esophagus	oesophagus
20	chr6:45515600-45521800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:45515600-45521800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:45515800-45522600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:45516000-45519800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:45516000-45521800	Weak transcription	NH-A	brain
25	chr6:45516800-45521400	Weak transcription	HSMM	muscle
26	chr6:45517000-45521600	Weak transcription	NHDF-Ad	bronchial
27	chr6:45517000-45521600	Weak transcription	NHLF	lung
28	chr6:45517000-45521800	Weak transcription	Dnd41	blood
29	chr6:45517000-45526000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:45517200-45520000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:45517200-45521600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:45517200-45521600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:45517200-45521600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:45517200-45521600	Weak transcription	Lung	lung
35	chr6:45517200-45521800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:45517200-45522000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:45517200-45522400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:45517200-45524600	Weak transcription	Placenta	Placenta
39	chr6:45517200-45524600	Weak transcription	Spleen	Spleen
40	chr6:45517400-45521600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr6:45517400-45521600	Weak transcription	Osteobl	bone
42	chr6:45517400-45521800	Weak transcription	Hela-S3	cervix
43	chr6:45517400-45523400	Weak transcription	Duodenum Mucosa	Duodenum
44	chr6:45517800-45521200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:45518000-45521600	Weak transcription	Fetal Kidney	kidney
46	chr6:45518200-45522000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:45518800-45523400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:45519400-45520200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:45519600-45520000	Weak transcription	Fetal Stomach	stomach
50	chr6:45519600-45521600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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