Variant report

Variant	nsv970074
Chromosome Location	chr6:5804160-5811421
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	chr6:5810702..5812355-chr6:5813795..5815931,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs189133582	chr6:5804236-5804237	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs181856408	chr6:5804279-5804280	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563456199	chr6:5804337-5804338	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs530697380	chr6:5804338-5804339	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs142705553	chr6:5804574-5804575	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564554533	chr6:5804581-5804582	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71557581	chr6:5804597-5804598	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118146004	chr6:5804654-5804655	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186419003	chr6:5804655-5804656	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374060465	chr6:5804689-5804690	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367944283	chr6:5804695-5804696	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568093922	chr6:5804710-5804711	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7775911	chr6:5804717-5804718	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190172323	chr6:5804796-5804797	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569462473	chr6:5804800-5804801	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539976582	chr6:5804840-5804841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181838766	chr6:5804862-5804863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1885909	chr6:5804868-5804869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560157854	chr6:5804880-5804881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534689568	chr6:5804885-5804886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539882555	chr6:5804922-5804923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1885910	chr6:5804925-5804926	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535458459	chr6:5804930-5804931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186398497	chr6:5804938-5804939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553713016	chr6:5804940-5804941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34489892	chr6:5804941-5804942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58951291	chr6:5804947-5804948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200222570	chr6:5804948-5804949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576893914	chr6:5804986-5804987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575450276	chr6:5805068-5805069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546124334	chr6:5805075-5805076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17145796	chr6:5805084-5805085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370809968	chr6:5805096-5805097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540304206	chr6:5805100-5805101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561864942	chr6:5805109-5805110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529211724	chr6:5805134-5805135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550703406	chr6:5805146-5805147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191244850	chr6:5805185-5805186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114736785	chr6:5805210-5805211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138606082	chr6:5805211-5805212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374142141	chr6:5805336-5805337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180713480	chr6:5805337-5805338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149304172	chr6:5805387-5805388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144479214	chr6:5805518-5805519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562203001	chr6:5805531-5805532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531404434	chr6:5805544-5805545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11965980	chr6:5805567-5805568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575234507	chr6:5805574-5805575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185325678	chr6:5805588-5805589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558055645	chr6:5805612-5805613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5793600-5804200	Weak transcription	Aorta	Aorta
2	chr6:5800200-5804200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:5804000-5804800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr6:5804200-5804400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:5804200-5804800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:5804200-5804800	Enhancers	Fetal Thymus	thymus
7	chr6:5804200-5805000	ZNF genes & repeats	Aorta	Aorta
8	chr6:5804400-5807200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:5804600-5804800	ZNF genes & repeats	Pancreas	Pancrea
10	chr6:5806600-5807200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:5809600-5815200	Enhancers	Fetal Thymus	thymus
12	chr6:5809800-5810400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:5809800-5810400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:5809800-5810400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:5809800-5810400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr6:5809800-5810400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr6:5809800-5810600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr6:5809800-5810600	Enhancers	Thymus	Thymus
19	chr6:5809800-5810800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:5810000-5810600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:5810000-5810800	Enhancers	Primary T cells from cord blood	blood
22	chr6:5810400-5813600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr6:5810400-5813600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr6:5810400-5813600	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:5810400-5813600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:5810400-5813600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:5810600-5811800	Weak transcription	Thymus	Thymus
28	chr6:5810600-5813600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:5810600-5813600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:5810800-5813800	Weak transcription	Primary T cells from cord blood	blood
31	chr6:5810800-5813800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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