Variant report

Variant	esv3377843
Chromosome Location	chr6:140749308-140767126
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:140718875..140720983-chr6:140765864..140768587,2	K562	blood:
2	chr6:139690498..139691306-chr6:140762196..140763003,2	MCF-7	breast:
3	chr6:140202585..140203697-chr6:140762103..140763026,6	MCF-7	breast:
4	chr6:139694253..139696855-chr6:140760707..140763686,3	MCF-7	breast:
5	chr6:140763859..140766809-chr6:140781953..140784173,2	MCF-7	breast:
6	chr6:139694299..139696526-chr6:140760601..140764243,4	MCF-7	breast:
7	chr6:139694272..139697265-chr6:140755488..140757218,2	MCF-7	breast:
8	chr6:140762424..140765135-chr6:140858930..140861399,3	MCF-7	breast:
9	chr6:140757123..140759381-chr6:140760081..140761694,2	K562	blood:
10	chr6:140425138..140426715-chr6:140748636..140750247,2	K562	blood:
11	chr6:139689542..139691996-chr6:140762311..140765261,2	MCF-7	breast:
12	chr6:140670786..140673738-chr6:140751539..140753328,2	K562	blood:
13	chr6:140373569..140374771-chr6:140762117..140763007,5	MCF-7	breast:
14	chr6:140757123..140759381-chr6:140760081..140761694,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164442	chromatin interactions

Extended variants
information (count: 644 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547549556	chr6:140749339-140749340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185834116	chr6:140749344-140749345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150985163	chr6:140749361-140749362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528934615	chr6:140749371-140749372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188697843	chr6:140749376-140749377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527888450	chr6:140749385-140749386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77967409	chr6:140749424-140749425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533851270	chr6:140749430-140749431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555104652	chr6:140749462-140749463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140862019	chr6:140749470-140749471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544150054	chr6:140749503-140749504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548814219	chr6:140749512-140749513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10046405	chr6:140749519-140749520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113850441	chr6:140749531-140749532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369382246	chr6:140749557-140749558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568974284	chr6:140749573-140749574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10046334	chr6:140749589-140749590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192791008	chr6:140749626-140749627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140223310	chr6:140749690-140749691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543089697	chr6:140749693-140749694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12526445	chr6:140749728-140749729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369459243	chr6:140749752-140749753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145260380	chr6:140749774-140749775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs137921858	chr6:140749804-140749805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10046430	chr6:140749807-140749808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532813915	chr6:140749863-140749864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534096341	chr6:140749899-140749900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547690783	chr6:140749907-140749908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553906354	chr6:140749916-140749917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374493904	chr6:140749919-140749920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143741530	chr6:140749922-140749923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183474957	chr6:140749957-140749958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555044040	chr6:140749964-140749965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566966440	chr6:140750019-140750020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375250207	chr6:140750041-140750042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555695213	chr6:140750059-140750060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577880404	chr6:140750063-140750064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545252333	chr6:140750075-140750076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549493891	chr6:140750112-140750113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188551467	chr6:140750131-140750132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542800180	chr6:140750150-140750151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9495699	chr6:140750196-140750197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531797177	chr6:140750213-140750214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367677833	chr6:140750308-140750309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569647309	chr6:140750352-140750353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536712142	chr6:140750384-140750385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184386461	chr6:140750401-140750402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565246288	chr6:140750435-140750436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532730177	chr6:140750436-140750437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556376564	chr6:140750438-140750439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140729000-140754000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:140748000-140758800	Weak transcription	Ovary	ovary
3	chr6:140748800-140752800	Weak transcription	Psoas Muscle	Psoas
4	chr6:140749000-140749400	Enhancers	Placenta	Placenta
5	chr6:140749400-140751400	Weak transcription	Placenta	Placenta
6	chr6:140751400-140751600	Enhancers	Placenta	Placenta
7	chr6:140752800-140753000	Enhancers	Psoas Muscle	Psoas
8	chr6:140754000-140754400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:140754000-140755400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:140754200-140756600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr6:140754600-140756600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr6:140754800-140756600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr6:140755000-140755400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:140755000-140755400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:140755000-140755800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:140755000-140756200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:140755000-140756400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr6:140755200-140757000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:140755400-140756800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
20	chr6:140755400-140757200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:140755400-140757200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:140755400-140759400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:140755600-140755800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr6:140755600-140756000	Enhancers	HMEC	breast
25	chr6:140755600-140756200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:140755800-140756000	Enhancers	Osteobl	bone
27	chr6:140755800-140757200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:140755800-140758400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:140756000-140756200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:140756000-140757200	Weak transcription	HMEC	breast
31	chr6:140756000-140757400	Weak transcription	Osteobl	bone
32	chr6:140756200-140756400	Enhancers	Placenta	Placenta
33	chr6:140756200-140757200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr6:140756200-140758600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:140756200-140759400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:140756400-140757000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:140756400-140757200	Active TSS	HSMMtube	muscle
38	chr6:140756400-140757200	Weak transcription	NHDF-Ad	bronchial
39	chr6:140756400-140758200	Weak transcription	Placenta	Placenta
40	chr6:140756600-140757000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr6:140756600-140757000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:140756600-140757200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:140756800-140757000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr6:140757000-140757200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:140757000-140757200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr6:140757000-140757200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:140757000-140757200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr6:140757000-140757200	Enhancers	Fetal Heart	heart
49	chr6:140757000-140757400	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr6:140757000-140758000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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