Variant report

Variant	nsv601151
Chromosome Location	chr6:24323858-24327501
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 158 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:158 , 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	rs9366567	chr6:24323858-24323859	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371992038	chr6:24323883-24323884	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs565347196	chr6:24323907-24323908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs77850756	chr6:24323925-24323926	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs544550957	chr6:24323935-24323936	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs562921372	chr6:24323952-24323953	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs192750763	chr6:24323955-24323956	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs548585976	chr6:24324031-24324032	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558251483	chr6:24324037-24324038	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115744454	chr6:24324051-24324052	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551515636	chr6:24324188-24324189	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs571395566	chr6:24324199-24324200	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs545344423	chr6:24324241-24324242	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs62400442	chr6:24324309-24324310	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532972932	chr6:24324336-24324337	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs66753105	chr6:24324403-24324404	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs377664720	chr6:24324406-24324407	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs370887417	chr6:24324407-24324408	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs397783569	chr6:24324408-24324409	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs7771394	chr6:24324421-24324422	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs35290480	chr6:24324449-24324450	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7751141	chr6:24324454-24324455	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553092929	chr6:24324456-24324457	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573246244	chr6:24324467-24324468	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs184207535	chr6:24324483-24324484	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs559992071	chr6:24324497-24324498	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs189372949	chr6:24324531-24324532	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs145732220	chr6:24324537-24324538	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs544487603	chr6:24324591-24324592	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs561213354	chr6:24324604-24324605	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530349183	chr6:24324625-24324626	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs77600992	chr6:24324687-24324688	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559095915	chr6:24324694-24324695	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs528181525	chr6:24324715-24324716	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs551237205	chr6:24324755-24324756	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571399333	chr6:24324827-24324828	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs530687739	chr6:24324842-24324843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs565098489	chr6:24324921-24324922	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76484225	chr6:24324939-24324940	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs113605574	chr6:24324990-24324991	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs567517175	chr6:24324999-24325000	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536557583	chr6:24325015-24325016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370509553	chr6:24325038-24325039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566798781	chr6:24325062-24325063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539099862	chr6:24325083-24325084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148899707	chr6:24325091-24325092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111539475	chr6:24325109-24325110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374543008	chr6:24325122-24325123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548432411	chr6:24325136-24325137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575350323	chr6:24325161-24325162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24316400-24326800	Weak transcription	Pancreas	Pancrea
2	chr6:24316600-24324800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:24322000-24324000	Weak transcription	HSMMtube	muscle
4	chr6:24322200-24324000	Weak transcription	Fetal Intestine Small	intestine
5	chr6:24322200-24324200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:24322200-24324800	Enhancers	Fetal Kidney	kidney
7	chr6:24322400-24325400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:24322600-24325000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:24323200-24324400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr6:24323200-24325000	Enhancers	NH-A	brain
11	chr6:24323400-24324200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:24323400-24324200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:24323600-24324000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr6:24323600-24324600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr6:24323600-24324800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:24323600-24325000	Flanking Active TSS	HepG2	liver
17	chr6:24323600-24325600	Enhancers	A549	lung
18	chr6:24323800-24324000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:24323800-24324000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:24323800-24324600	Enhancers	Hela-S3	cervix
21	chr6:24323800-24324800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:24323800-24324800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:24323800-24325400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr6:24324000-24324200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:24324000-24324400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:24324000-24324600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:24324000-24324600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:24324000-24324600	Enhancers	HSMMtube	muscle
29	chr6:24324000-24324600	Enhancers	NHEK	skin
30	chr6:24324000-24324800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr6:24324000-24325400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr6:24324200-24324400	Enhancers	Fetal Intestine Small	intestine
33	chr6:24324200-24324600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:24324200-24324600	Enhancers	HMEC	breast
35	chr6:24324200-24324800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:24324200-24325000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:24324200-24329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:24324400-24332000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:24324600-24325400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:24324600-24329200	Weak transcription	NHEK	skin
41	chr6:24324600-24330000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:24324600-24332000	Weak transcription	HMEC	breast
43	chr6:24324600-24332200	Weak transcription	HSMMtube	muscle
44	chr6:24324800-24325000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:24324800-24325000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:24324800-24325200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:24324800-24329000	Weak transcription	Fetal Kidney	kidney
48	chr6:24325000-24325400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr6:24325000-24329000	Weak transcription	NH-A	brain
50	chr6:24325000-24329400	Enhancers	HepG2	liver

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