Variant report

Variant	nsv1023426
Chromosome Location	chr6:142813845-142940262
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:22)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:142795389..142796549-chr6:142858956..142859685,5	K562	blood:
2	chr6:142795293..142796599-chr6:142858404..142859884,17	MCF-7	breast:
3	chr6:142933596..142935251-chr6:142940281..142942612,2	K562	blood:
4	chr6:142888070..142889007-chr6:143658493..143659311,3	K562	blood:
5	chr6:142822658..142824283-chr6:142828599..142831339,2	K562	blood:
6	chr6:142795660..142796512-chr6:142887782..142888463,3	MCF-7	breast:
7	chr6:142865194..142866984-chr6:142867899..142870428,2	K562	blood:
8	chr6:142873824..142875565-chr6:142876278..142879250,2	K562	blood:
9	chr6:142887945..142888620-chr6:143748282..143748998,3	K562	blood:
10	chr6:142865194..142866984-chr6:142867899..142870428,2	K562	blood:
11	chr6:142857341..142858848-chr6:142866287..142867796,2	MCF-7	breast:
12	chr6:142885913..142888379-chr6:142890685..142893143,2	MCF-7	breast:
13	chr6:142885913..142888379-chr6:142890685..142893143,2	MCF-7	breast:
14	chr6:142815726..142818546-chr6:142820153..142822884,2	K562	blood:
15	chr6:142815726..142818546-chr6:142820153..142822884,2	K562	blood:
16	chr6:142925129..142927801-chr6:142932639..142935084,3	MCF-7	breast:
17	chr6:142925129..142927801-chr6:142932639..142935084,3	MCF-7	breast:
18	chr6:142857341..142858848-chr6:142866287..142867796,2	MCF-7	breast:
19	chr6:142795541..142796339-chr6:142852529..142853462,2	MCF-7	breast:
20	chr6:142822658..142824283-chr6:142828599..142831339,2	K562	blood:
21	chr6:142873824..142875565-chr6:142876278..142879250,2	K562	blood:
22	chr6:142467890..142468608-chr6:142858977..142859706,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIVEP2-5	chr6:142865944-142866130	XLOC_005862
2	lnc-HIVEP2-5	chr6:142847592-142849520	XLOC_005862
3	lnc-HIVEP2-5	chr6:142849096-142849520	XLOC_005862
4	lnc-HIVEP2-5	chr6:142847592-142849520	XLOC_005862
5	lnc-HIVEP2-7	chr6:142889285-142891213	NONHSAT115318
6	lnc-HIVEP2-5	chr6:142917437-142917673	XLOC_005862
7	lnc-HIVEP2-5	chr6:142864123-142864154	XLOC_005862
8	lnc-HIVEP2-7	chr6:142907637-142907823	NONHSAT115318

No data

Variant related genes	Relation type
ENSG00000009844	chromatin interactions
PODXL	miRNA target sites
POC1B	miRNA target sites

Extended variants
information (count: 3749 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3749 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565067469	chr6:142817206-142817207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554956974	chr6:142817227-142817228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532492341	chr6:142817234-142817235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139390082	chr6:142817249-142817250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566151705	chr6:142817272-142817273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530371940	chr6:142817274-142817275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548647524	chr6:142817293-142817294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372795001	chr6:142817300-142817301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186466741	chr6:142817304-142817305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537075923	chr6:142817314-142817315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558661097	chr6:142817347-142817348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144168781	chr6:142817353-142817354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12664078	chr6:142817389-142817390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536280323	chr6:142817391-142817392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553088086	chr6:142817399-142817400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs262115	chr6:142817407-142817408	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs542100765	chr6:142817408-142817409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144886676	chr6:142817420-142817421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576008232	chr6:142817516-142817517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557556232	chr6:142817561-142817562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115853186	chr6:142817580-142817581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564952920	chr6:142817592-142817593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149044423	chr6:142817611-142817612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375716640	chr6:142817649-142817650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528317030	chr6:142817720-142817721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541169034	chr6:142817761-142817762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191203847	chr6:142817794-142817795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530270699	chr6:142817795-142817796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180855323	chr6:142821017-142821018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537433075	chr6:142821076-142821077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544704707	chr6:142821120-142821121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560083558	chr6:142821159-142821160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527517628	chr6:142821187-142821188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548988094	chr6:142821195-142821196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567526103	chr6:142821221-142821222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376545849	chr6:142821253-142821254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531656977	chr6:142821273-142821274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557406792	chr6:142821297-142821298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76381934	chr6:142821311-142821312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539936858	chr6:142821316-142821317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183971674	chr6:142821324-142821325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566934754	chr6:142821336-142821337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534432004	chr6:142821464-142821465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373799134	chr6:142821472-142821473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370542314	chr6:142821491-142821492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189387223	chr6:142821494-142821495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574239350	chr6:142821499-142821500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34815515	chr6:142821542-142821543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62430187	chr6:142821543-142821544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374909388	chr6:142821573-142821574	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	21364760	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
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Burkitt''s lymphoma	19759907	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142817200-142817800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:142821000-142822400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:142821200-142822000	Enhancers	HSMMtube	muscle
4	chr6:142821200-142822000	Enhancers	Osteobl	bone
5	chr6:142821400-142822400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:142821600-142822000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:142821600-142822000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:142821600-142822000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:142822000-142822200	Flanking Active TSS	Osteobl	bone
10	chr6:142822000-142822400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:142828000-142828600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:142828000-142828800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:142828800-142832000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:142830600-142831200	Enhancers	HSMMtube	muscle
15	chr6:142831200-142831400	Flanking Active TSS	HSMMtube	muscle
16	chr6:142831200-142832200	Enhancers	Fetal Muscle Leg	muscle
17	chr6:142831200-142832200	Enhancers	Fetal Stomach	stomach
18	chr6:142831400-142831600	Enhancers	HSMMtube	muscle
19	chr6:142831600-142831800	Flanking Active TSS	HSMMtube	muscle
20	chr6:142831600-142832200	Enhancers	Fetal Lung	lung
21	chr6:142831800-142832200	Enhancers	HSMMtube	muscle
22	chr6:142839200-142839600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr6:142839200-142839600	Enhancers	Fetal Lung	lung
24	chr6:142839200-142839600	Enhancers	Fetal Muscle Leg	muscle
25	chr6:142839200-142839600	Enhancers	Fetal Thymus	thymus
26	chr6:142839200-142839800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr6:142839200-142840000	Enhancers	Primary T cells from cord blood	blood
28	chr6:142839200-142840200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:142839200-142840200	Enhancers	Dnd41	blood
30	chr6:142839200-142840400	Enhancers	Placenta	Placenta
31	chr6:142839200-142840400	Enhancers	HSMM	muscle
32	chr6:142839200-142840400	Enhancers	HSMMtube	muscle
33	chr6:142839200-142840600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:142839200-142840600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:142839400-142839600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr6:142839400-142840000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:142839400-142840000	Enhancers	Esophagus	oesophagus
38	chr6:142839400-142840600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:142839400-142840600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:142839600-142840800	Enhancers	HMEC	breast
41	chr6:142839600-142843400	Weak transcription	Fetal Lung	lung
42	chr6:142839800-142840400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr6:142839800-142840600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:142839800-142840800	Enhancers	NHEK	skin
45	chr6:142840000-142840400	Weak transcription	Esophagus	oesophagus
46	chr6:142840000-142842600	Weak transcription	Primary T cells from cord blood	blood
47	chr6:142840000-142843400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:142840400-142840600	Enhancers	Esophagus	oesophagus
49	chr6:142840400-142843200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:142840600-142843200	Weak transcription	Esophagus	oesophagus

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