Variant report

Variant	esv1850377
Chromosome Location	chr6:145199259-145319640
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:41)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:145201257..145203488-chr6:145205369..145207840,2	K562	blood:
2	chr6:145201337..145203638-chr6:145216536..145219357,2	MCF-7	breast:
3	chr6:145215634..145217242-chr6:145456840..145459220,2	MCF-7	breast:
4	chr6:145218461..145220484-chr6:145220620..145222253,2	K562	blood:
5	chr6:145310133..145312483-chr6:145315397..145316971,2	MCF-7	breast:
6	chr6:145316064..145318663-chr6:145319154..145322013,2	MCF-7	breast:
7	chr6:145201257..145203488-chr6:145205369..145207840,2	K562	blood:
8	chr6:145257627..145260231-chr6:145260942..145263253,2	K562	blood:
9	chr6:145310133..145312483-chr6:145315397..145316971,2	MCF-7	breast:
10	chr6:145271887..145272387-chr9:130213431..130213993,2	HCT-116	colon:
11	chr6:145311761..145313363-chr6:145317514..145320282,2	MCF-7	breast:
12	chr6:145199350..145203488-chr6:145205369..145208032,3	K562	blood:
13	chr6:145213043..145215099-chr6:145218450..145220487,2	K562	blood:
14	chr6:145252913..145255004-chr6:145259463..145261146,2	K562	blood:
15	chr6:145255647..145257296-chr6:145259135..145261400,2	MCF-7	breast:
16	chr6:145311761..145313363-chr6:145317514..145320282,2	MCF-7	breast:
17	chr6:145210923..145212956-chr6:145216545..145218194,2	MCF-7	breast:
18	chr6:145219914..145222376-chr6:145224376..145227096,2	K562	blood:
19	chr6:145199307..145201397-chr6:145215115..145217715,2	MCF-7	breast:
20	chr6:145210923..145212956-chr6:145216545..145218194,2	MCF-7	breast:
21	chr6:145218461..145220484-chr6:145220620..145222253,2	K562	blood:
22	chr6:145281410..145283107-chr6:145284584..145286778,2	K562	blood:
23	chr6:145316794..145319554-chr6:145320560..145322113,2	K562	blood:
24	chr6:145201337..145203638-chr6:145216536..145219357,2	MCF-7	breast:
25	chr6:145255647..145257296-chr6:145259135..145261400,2	MCF-7	breast:
26	chr6:145213043..145215099-chr6:145218450..145220487,2	K562	blood:
27	chr6:145202232..145204712-chr6:145207955..145210367,2	K562	blood:
28	chr6:144605023..144607669-chr6:145255908..145258277,2	K562	blood:
29	chr6:145310448..145311952-chr6:145321899..145324314,2	K562	blood:
30	chr6:145252913..145255004-chr6:145259463..145261146,2	K562	blood:
31	chr6:145199350..145203488-chr6:145205369..145208032,3	K562	blood:
32	chr6:145316064..145318663-chr6:145319154..145322013,2	MCF-7	breast:
33	chr6:145219914..145222376-chr6:145224376..145227096,2	K562	blood:
34	chr15:85291487..85292294-chr6:145251943..145252758,2	HCT-116	colon:
35	chr6:145202232..145204712-chr6:145207955..145210367,2	K562	blood:
36	chr6:145199307..145201397-chr6:145215115..145217715,2	MCF-7	breast:
37	chr6:145281410..145283107-chr6:145284584..145286778,2	K562	blood:
38	chr6:145257627..145260231-chr6:145260942..145263253,2	K562	blood:
39	chr6:144902631..144903701-chr6:145252294..145253338,4	K562	blood:
40	chr6:145195775..145198771-chr6:145199592..145202837,3	K562	blood:
41	chr6:145313866..145316779-chr6:145321173..145322881,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UTRN-3	chr6:145244723-145244890	NONHSAT115388
2	lnc-UTRN-3	chr6:145249545-145249971	NONHSAT115388

No data

Variant related genes	Relation type
ENSG00000197958	chromatin interactions
ENSG00000166716	chromatin interactions
ENSG00000152818	chromatin interactions
ENSG00000148356	chromatin interactions

Extended variants
information (count: 3892 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:3892 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6931349	chr6:145199259-145199260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6931199	chr6:145199302-145199303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs77600239	chr6:145199312-145199313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78003594	chr6:145199348-145199349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149716495	chr6:145199372-145199373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111369725	chr6:145199374-145199375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139412891	chr6:145199407-145199408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6931703	chr6:145199437-145199438	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115166810	chr6:145199474-145199475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73779401	chr6:145199490-145199491	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144133658	chr6:145199492-145199493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556564584	chr6:145199542-145199543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs9390247	chr6:145199628-145199629	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs372745881	chr6:145199655-145199656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576912039	chr6:145199660-145199661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6570656	chr6:145199677-145199678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs560760262	chr6:145199695-145199696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528024965	chr6:145199796-145199797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146426833	chr6:145199810-145199811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561549348	chr6:145199814-145199815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531676080	chr6:145199837-145199838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140782280	chr6:145199846-145199847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571259231	chr6:145199871-145199872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143093216	chr6:145199878-145199879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547427906	chr6:145199898-145199899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151169128	chr6:145199922-145199923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72198237	chr6:145199945-145199946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376469291	chr6:145199949-145199950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200639170	chr6:145199969-145199970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191017612	chr6:145200017-145200018	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536569529	chr6:145200047-145200048	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141066753	chr6:145200054-145200055	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9399514	chr6:145200163-145200164	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200573725	chr6:145200166-145200167	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7753793	chr6:145200173-145200174	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs74557775	chr6:145200175-145200176	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7771817	chr6:145200201-145200202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552963524	chr6:145200205-145200206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7753814	chr6:145200212-145200213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543318325	chr6:145200239-145200240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533442056	chr6:145200247-145200248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114297320	chr6:145200262-145200263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73781203	chr6:145200275-145200276	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182517856	chr6:145200295-145200296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565028593	chr6:145200304-145200305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4143178	chr6:145200305-145200306	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs559491603	chr6:145200325-145200326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150248476	chr6:145200357-145200358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547358706	chr6:145200401-145200402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566080846	chr6:145200429-145200430	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Gastric cancer	17908304	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145196200-145199600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:145199400-145201400	Enhancers	Fetal Heart	heart
3	chr6:145199600-145200000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:145199800-145200000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:145199800-145200200	Enhancers	Fetal Thymus	thymus
6	chr6:145200000-145200200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr6:145200600-145201000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:145200600-145201200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:145200600-145201200	Enhancers	A549	lung
10	chr6:145200800-145201000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:145200800-145201400	Enhancers	HSMMtube	muscle
12	chr6:145203600-145204800	Bivalent Enhancer	HepG2	liver
13	chr6:145204800-145205400	Enhancers	Spleen	Spleen
14	chr6:145206600-145208800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:145206600-145208800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:145207000-145209400	Enhancers	K562	blood
17	chr6:145209800-145210200	Enhancers	HSMM	muscle
18	chr6:145210600-145217000	Weak transcription	Right Atrium	heart
19	chr6:145213600-145213800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:145213800-145214000	Enhancers	Osteobl	bone
21	chr6:145213800-145215200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:145214000-145215400	Weak transcription	Osteobl	bone
23	chr6:145214400-145214800	Enhancers	Fetal Intestine Large	intestine
24	chr6:145214400-145216400	Enhancers	A549	lung
25	chr6:145214800-145218400	Weak transcription	Fetal Intestine Large	intestine
26	chr6:145215200-145215400	Enhancers	HSMMtube	muscle
27	chr6:145215200-145215800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:145215200-145215800	Enhancers	Fetal Intestine Small	intestine
29	chr6:145215200-145216000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:145215400-145216000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:145215400-145218000	Weak transcription	HSMMtube	muscle
32	chr6:145215400-145220800	Enhancers	Osteobl	bone
33	chr6:145215600-145215800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:145215600-145215800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:145215600-145215800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:145215600-145216000	Enhancers	Fetal Thymus	thymus
37	chr6:145215800-145217600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:145215800-145218400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:145216000-145216400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:145216000-145217200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:145216000-145217200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:145216400-145217600	Weak transcription	A549	lung
43	chr6:145216400-145221200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:145216600-145216800	Enhancers	HepG2	liver
45	chr6:145216600-145219200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr6:145216800-145217800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr6:145216800-145218600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:145216800-145218800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr6:145216800-145219000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr6:145216800-145219200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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