Variant report

Variant	nsv528129
Chromosome Location	chr6:1767459-1772720
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:1641157..1641856-chr6:1767705..1768705,2	MCF-7	breast:
2	chr6:1769402..1772177-chr6:1775658..1777982,2	K562	blood:
3	chr6:1767654..1768676-chr6:1832751..1833553,3	MCF-7	breast:
4	chr6:1755526..1758374-chr6:1765956..1768528,2	MCF-7	breast:
5	chr6:1772266..1774519-chr6:1779951..1781505,2	K562	blood:
6	chr6:1768794..1770294-chr8:43091411..43093269,2	MCF-7	breast:
7	chr6:1641286..1642167-chr6:1767930..1768507,2	MCF-7	breast:
8	chr6:1640395..1643139-chr6:1772426..1774181,2	MCF-7	breast:
9	chr6:1641308..1641822-chr6:1768377..1768898,2	MCF-7	breast:
10	chr6:1769402..1771120-chr6:1775658..1777745,2	K562	blood:
11	chr6:1759044..1762047-chr6:1765205..1768245,4	MCF-7	breast:
12	chr6:1762365..1765398-chr6:1767554..1769715,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf195-34	chr6:1767197-1772399	NONHSAT106547
2	lnc-C6orf195-34	chr6:1767197-1772399	NONHSAT106546

No data

Extended variants
information (count: 195 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs17134274	chr6:1767459-1767460	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
2	rs144645513	chr6:1767471-1767472	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
3	rs62390371	chr6:1767485-1767486	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
4	rs202230511	chr6:1767487-1767488	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
5	rs34536636	chr6:1767488-1767489	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
6	rs3039698	chr6:1767491-1767492	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
7	rs201183924	chr6:1767492-1767493	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
8	rs115069300	chr6:1767521-1767522	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
9	rs576837942	chr6:1767525-1767526	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
10	rs538085359	chr6:1767531-1767532	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
11	rs554428836	chr6:1767532-1767533	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
12	rs72841916	chr6:1767580-1767581	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
13	rs3800049	chr6:1767581-1767582	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
14	rs761151	chr6:1767582-1767583	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
15	rs147395963	chr6:1767631-1767632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
16	rs80035153	chr6:1767694-1767695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
17	rs576458810	chr6:1767700-1767701	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
18	rs3800050	chr6:1767723-1767724	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs148977591	chr6:1767783-1767784	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
20	rs9391931	chr6:1767858-1767859	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs187439112	chr6:1767875-1767876	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs542410648	chr6:1767878-1767879	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs562235121	chr6:1767925-1767926	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs527805107	chr6:1767935-1767936	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs547947719	chr6:1767996-1767997	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs564553612	chr6:1768045-1768046	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs543128230	chr6:1768046-1768047	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs533414822	chr6:1768121-1768122	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs192806186	chr6:1768128-1768129	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs569142128	chr6:1768160-1768161	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs542112478	chr6:1768166-1768167	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs3823263	chr6:1768173-1768174	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs548387710	chr6:1768187-1768188	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs373176278	chr6:1768188-1768189	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs550460045	chr6:1768210-1768211	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs148485603	chr6:1768265-1768266	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs184690982	chr6:1768268-1768269	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs533715420	chr6:1768278-1768279	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs75393343	chr6:1768286-1768287	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs576520809	chr6:1768287-1768288	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs148166934	chr6:1768379-1768380	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs555836979	chr6:1768384-1768385	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs75825652	chr6:1768394-1768395	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs34353948	chr6:1768441-1768442	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs542122208	chr6:1768442-1768443	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs77544968	chr6:1768546-1768547	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs572708056	chr6:1768596-1768597	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs541642808	chr6:1768661-1768662	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs189961368	chr6:1768668-1768669	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs144135594	chr6:1768670-1768671	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1738400-1768200	Weak transcription	Primary T cells from cord blood	blood
2	chr6:1749800-1779000	Weak transcription	Aorta	Aorta
3	chr6:1751200-1780400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:1757200-1770600	Weak transcription	Lung	lung
5	chr6:1758600-1771400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:1758800-1767800	Weak transcription	Small Intestine	intestine
7	chr6:1761000-1768400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:1762600-1767800	Weak transcription	Brain Substantia Nigra	brain
9	chr6:1762600-1770600	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:1762800-1767800	Weak transcription	Fetal Intestine Large	intestine
11	chr6:1762800-1801600	Weak transcription	Colonic Mucosa	Colon
12	chr6:1763000-1792600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr6:1763800-1771600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:1764000-1771400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:1764000-1773600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:1764200-1767600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:1764200-1767600	Weak transcription	NHEK	skin
18	chr6:1764200-1767800	Weak transcription	GM12878-XiMat	blood
19	chr6:1764200-1768000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:1764200-1771400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:1764400-1770600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:1765000-1770800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:1765400-1768800	Enhancers	Stomach Mucosa	stomach
24	chr6:1765400-1768800	Enhancers	HUVEC	blood vessel
25	chr6:1765800-1768000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:1766000-1767800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr6:1766000-1768200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:1766000-1768200	Enhancers	Right Atrium	heart
29	chr6:1766000-1773600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:1766400-1767600	Weak transcription	Left Ventricle	heart
31	chr6:1766400-1768600	Enhancers	HMEC	breast
32	chr6:1766600-1767600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:1766800-1768000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:1766800-1768000	Enhancers	HSMMtube	muscle
35	chr6:1766800-1768200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:1766800-1768200	Enhancers	Fetal Lung	lung
37	chr6:1766800-1768400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr6:1766800-1768400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:1766800-1768800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:1766800-1768800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:1767000-1767800	Enhancers	Hela-S3	cervix
42	chr6:1767000-1767800	Enhancers	NHLF	lung
43	chr6:1767000-1768000	Enhancers	Fetal Muscle Trunk	muscle
44	chr6:1767000-1768200	Enhancers	Fetal Muscle Leg	muscle
45	chr6:1767000-1768400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:1767000-1768400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr6:1767000-1768400	Enhancers	Adipose Nuclei	Adipose
48	chr6:1767000-1768400	Enhancers	Fetal Heart	heart
49	chr6:1767000-1768400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr6:1767000-1768400	Enhancers	Skeletal Muscle Female	skeletal muscle

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