Variant report

Variant	nsv515988
Chromosome Location	chr6:24454679-24463461
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	chr6:24444100..24446602-chr6:24457686..24459822,2	K562	blood:
2	chr6:24450784..24454394-chr6:24459260..24463305,3	K562	blood:

Extended variants
information (count: 449 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6925475	chr6:24454679-24454680	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558373398	chr6:24454699-24454700	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs66535920	chr6:24454706-24454707	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397687101	chr6:24454711-24454712	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7764913	chr6:24454784-24454785	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543964053	chr6:24454789-24454790	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571426960	chr6:24454822-24454823	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527593478	chr6:24454863-24454864	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143040002	chr6:24454872-24454873	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376453198	chr6:24454875-24454876	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148178781	chr6:24454877-24454878	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369263179	chr6:24454886-24454887	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115758726	chr6:24454910-24454911	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141942482	chr6:24454953-24454954	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192667317	chr6:24454982-24454983	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551169995	chr6:24454998-24454999	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546224210	chr6:24455015-24455016	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183362810	chr6:24455038-24455039	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566369922	chr6:24455079-24455080	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150676603	chr6:24455095-24455096	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543819989	chr6:24455133-24455134	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548677141	chr6:24455138-24455139	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568689375	chr6:24455141-24455142	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562814609	chr6:24455147-24455148	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9467171	chr6:24455155-24455156	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs139120145	chr6:24455156-24455157	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9467172	chr6:24455175-24455176	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs186807556	chr6:24455183-24455184	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192172621	chr6:24455184-24455185	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537578177	chr6:24455206-24455207	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77902521	chr6:24455211-24455212	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80248815	chr6:24455212-24455213	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80236717	chr6:24455213-24455214	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554208827	chr6:24455215-24455216	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76037839	chr6:24455216-24455217	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74744681	chr6:24455217-24455218	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74756215	chr6:24455219-24455220	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79328137	chr6:24455220-24455221	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76989501	chr6:24455221-24455222	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78345896	chr6:24455223-24455224	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74796743	chr6:24455224-24455225	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78290945	chr6:24455226-24455227	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74604143	chr6:24455227-24455228	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75193054	chr6:24455228-24455229	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79026380	chr6:24455229-24455230	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs80212257	chr6:24455230-24455231	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76023237	chr6:24455234-24455235	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74425046	chr6:24455235-24455236	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74831080	chr6:24455236-24455237	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75646210	chr6:24455237-24455238	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24421200-24459600	Weak transcription	Spleen	Spleen
2	chr6:24424000-24456600	Weak transcription	Ovary	ovary
3	chr6:24427600-24456800	Weak transcription	Lung	lung
4	chr6:24427800-24467000	Weak transcription	Brain Germinal Matrix	brain
5	chr6:24429000-24494200	Weak transcription	Primary B cells from cord blood	blood
6	chr6:24429200-24455600	Weak transcription	Brain Angular Gyrus	brain
7	chr6:24429400-24483800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:24429600-24455000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:24432600-24463800	Weak transcription	Fetal Intestine Small	intestine
10	chr6:24437600-24455400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:24437800-24459600	Weak transcription	Left Ventricle	heart
12	chr6:24438000-24464000	Weak transcription	Pancreas	Pancrea
13	chr6:24438200-24455600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:24438400-24483200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:24438600-24459800	Weak transcription	Fetal Stomach	stomach
16	chr6:24438800-24469200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:24444000-24458200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr6:24447200-24470200	Weak transcription	Aorta	Aorta
19	chr6:24447400-24490400	Weak transcription	Brain Anterior Caudate	brain
20	chr6:24448200-24466200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:24448400-24458000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr6:24448800-24488000	Weak transcription	Fetal Muscle Leg	muscle
23	chr6:24450200-24459400	Weak transcription	Esophagus	oesophagus
24	chr6:24452200-24458400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr6:24452400-24458200	Weak transcription	Adipose Nuclei	Adipose
26	chr6:24452600-24466400	Weak transcription	Dnd41	blood
27	chr6:24452800-24458400	Weak transcription	Hela-S3	cervix
28	chr6:24453200-24471000	Strong transcription	Liver	Liver
29	chr6:24454400-24455000	Enhancers	Fetal Thymus	thymus
30	chr6:24454600-24455400	Enhancers	Thymus	Thymus
31	chr6:24454600-24455600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:24455400-24455600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:24455400-24457400	Weak transcription	Thymus	Thymus
34	chr6:24457400-24458800	Strong transcription	Thymus	Thymus
35	chr6:24458000-24458800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr6:24458200-24458600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:24458200-24459400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:24458200-24459600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:24458200-24459600	Enhancers	Adipose Nuclei	Adipose
40	chr6:24458400-24458600	Enhancers	Hela-S3	cervix
41	chr6:24458400-24458800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:24458400-24459600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr6:24458600-24459200	Weak transcription	Hela-S3	cervix
44	chr6:24458600-24489000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:24458800-24459800	Enhancers	Placenta	Placenta
46	chr6:24458800-24461400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:24458800-24492800	Weak transcription	Thymus	Thymus
48	chr6:24458800-24494000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr6:24459200-24459400	Enhancers	Hela-S3	cervix
50	chr6:24459600-24461200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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