Variant report

Variant	nsv819424
Chromosome Location	chr6:494232-499865
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:499255..501775-chr6:512094..513788,2	K562	blood:
2	chr6:495786..498044-chr6:509151..511366,2	K562	blood:

Extended variants
information (count: 275 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2175897	chr6:494314-494315	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs534569496	chr6:494326-494327	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs139940834	chr6:494352-494353	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142218625	chr6:494359-494360	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs548676036	chr6:494402-494403	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35281538	chr6:494442-494443	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11334291	chr6:494454-494455	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs200935306	chr6:494455-494456	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558302540	chr6:494520-494521	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568442944	chr6:494528-494529	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs370489438	chr6:494541-494542	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534236109	chr6:494560-494561	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs4959951	chr6:494567-494568	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111636744	chr6:494576-494577	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs73380941	chr6:494591-494592	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs560922643	chr6:494693-494694	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs116695383	chr6:494731-494732	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112930510	chr6:494759-494760	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs535645933	chr6:494785-494786	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs182743246	chr6:494793-494794	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs187668655	chr6:494798-494799	Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs192839937	chr6:494825-494826	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs182548359	chr6:494830-494831	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs540262792	chr6:494879-494880	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs117624642	chr6:494918-494919	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs149882895	chr6:494919-494920	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs545698825	chr6:494921-494922	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs187205044	chr6:494941-494942	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs531563336	chr6:494988-494989	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs202188970	chr6:495055-495056	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs569501030	chr6:495072-495073	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs548067796	chr6:495075-495076	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs557036317	chr6:495095-495096	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs372179527	chr6:495099-495100	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs562252909	chr6:495101-495102	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs71536974	chr6:495111-495112	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs35932239	chr6:495128-495129	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs552819282	chr6:495141-495142	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs11335527	chr6:495143-495144	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
40	rs113980341	chr6:495156-495157	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
41	rs538510684	chr6:495157-495158	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
42	rs547864765	chr6:495186-495187	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
43	rs4959958	chr6:495188-495189	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs539810098	chr6:495189-495190	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
45	rs550518920	chr6:495195-495196	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
46	rs184462351	chr6:495196-495197	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
47	rs536078946	chr6:495204-495205	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs555672584	chr6:495212-495213	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs574522227	chr6:495218-495219	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs4642520	chr6:495226-495227	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	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
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:475600-498600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:475600-511000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:475600-515200	Weak transcription	Brain Germinal Matrix	brain
4	chr6:479400-495600	Weak transcription	HepG2	liver
5	chr6:480800-502400	Weak transcription	Fetal Heart	heart
6	chr6:481000-505400	Weak transcription	Fetal Brain Male	brain
7	chr6:481000-513000	Weak transcription	Psoas Muscle	Psoas
8	chr6:483000-520800	Weak transcription	HSMM	muscle
9	chr6:483200-495600	Weak transcription	NHDF-Ad	bronchial
10	chr6:483400-506600	Weak transcription	A549	lung
11	chr6:483600-495800	Weak transcription	Small Intestine	intestine
12	chr6:484000-502000	Weak transcription	Colonic Mucosa	Colon
13	chr6:484400-509800	Weak transcription	HUVEC	blood vessel
14	chr6:484800-497400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr6:485000-502000	Weak transcription	HMEC	breast
16	chr6:486000-495600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:486000-508000	Weak transcription	NHEK	skin
18	chr6:486400-511600	Weak transcription	Fetal Brain Female	brain
19	chr6:486400-516200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:486400-520800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:486600-502400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:486800-494800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr6:486800-495600	Weak transcription	NH-A	brain
24	chr6:486800-497200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr6:486800-501800	Weak transcription	Brain Angular Gyrus	brain
26	chr6:486800-502000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr6:486800-520600	Weak transcription	Gastric	stomach
28	chr6:487000-520600	Weak transcription	Hela-S3	cervix
29	chr6:487200-495200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:487200-495600	Weak transcription	Osteobl	bone
31	chr6:487200-522200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:487800-495200	Enhancers	Primary T cells from cord blood	blood
33	chr6:488000-503800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:488200-498800	Weak transcription	Brain Anterior Caudate	brain
35	chr6:488400-494800	Weak transcription	NHLF	lung
36	chr6:488400-495000	Weak transcription	Thymus	Thymus
37	chr6:488400-495200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:488400-495400	Weak transcription	Lung	lung
39	chr6:488400-495600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr6:488400-495600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr6:488400-495600	Weak transcription	Ovary	ovary
42	chr6:488400-498800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:488400-498800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:488400-502000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:488400-503800	Weak transcription	Fetal Intestine Small	intestine
46	chr6:488400-504000	Weak transcription	Esophagus	oesophagus
47	chr6:488400-504000	Weak transcription	Pancreas	Pancrea
48	chr6:488400-504000	Weak transcription	Spleen	Spleen
49	chr6:488400-504200	Weak transcription	Right Ventricle	heart
50	chr6:488400-516000	Weak transcription	HSMMtube	muscle

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