Variant report

Variant	nsv1031283
Chromosome Location	chr6:6084559-6160039
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:0)
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	chr6:6153575..6156291-chr6:6157133..6159835,2	MCF-7	breast:
2	chr6:6145392..6149788-chr6:6151759..6155540,4	K562	blood:
3	chr6:6145392..6149788-chr6:6151759..6155540,4	K562	blood:
4	chr6:5950638..5951755-chr6:6131447..6132601,3	K562	blood:
5	chr6:6157025..6159845-chr6:6160579..6162393,2	K562	blood:
6	chr6:6151075..6153278-chr6:6155473..6158572,3	K562	blood:
7	chr6:6057437..6058187-chr6:6131665..6132378,2	MCF-7	breast:
8	chr6:6151075..6153278-chr6:6155473..6158572,3	K562	blood:
9	chr6:6105635..6106483-chr6:6547063..6547883,3	K562	blood:
10	chr6:5470888..5471844-chr6:6131906..6132435,2	MCF-7	breast:
11	chr6:6153575..6156291-chr6:6157133..6159835,2	MCF-7	breast:
12	chr6:6131718..6132300-chr6:6547070..6547907,2	MCF-7	breast:

No data

Extended variants
information (count: 932 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9405288	chr6:6086268-6086269	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113573639	chr6:6086275-6086276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374692968	chr6:6086288-6086289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34533946	chr6:6086320-6086321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552326733	chr6:6086321-6086322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75826972	chr6:6086323-6086324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540163163	chr6:6086333-6086334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531867024	chr6:6086362-6086363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558048227	chr6:6086448-6086449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558459251	chr6:6086455-6086456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573076602	chr6:6086553-6086554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540433529	chr6:6086630-6086631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190184606	chr6:6086641-6086642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9379011	chr6:6086646-6086647	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541436391	chr6:6086656-6086657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9392100	chr6:6086662-6086663	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141399400	chr6:6086705-6086706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546049187	chr6:6086728-6086729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs74362228	chr6:6086749-6086750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528255811	chr6:6086765-6086766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4960163	chr6:6086767-6086768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11752510	chr6:6086769-6086770	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147021462	chr6:6086780-6086781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529418106	chr6:6086802-6086803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550685783	chr6:6086803-6086804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182732713	chr6:6086839-6086840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74979706	chr6:6086851-6086852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539474238	chr6:6086861-6086862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557986738	chr6:6086880-6086881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11754092	chr6:6086891-6086892	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs35280614	chr6:6086898-6086899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs80315748	chr6:6086901-6086902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555567730	chr6:6086923-6086924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574431639	chr6:6086941-6086942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185851949	chr6:6086983-6086984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556800496	chr6:6087023-6087024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575130384	chr6:6087031-6087032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138090050	chr6:6087034-6087035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113352491	chr6:6087042-6087043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140846674	chr6:6087068-6087069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150144242	chr6:6087085-6087086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138426689	chr6:6087150-6087151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549665172	chr6:6087161-6087162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529094930	chr6:6087183-6087184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576009097	chr6:6087192-6087193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538001824	chr6:6087262-6087263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs55899227	chr6:6087274-6087275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533349479	chr6:6087298-6087299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551405889	chr6:6087317-6087318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566799355	chr6:6087318-6087319	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Ovarian cancer	21720365	CNVD
Melanoma	20688739	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:6086200-6086800	Enhancers	GM12878-XiMat	blood
2	chr6:6086200-6088000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr6:6091200-6092000	Enhancers	GM12878-XiMat	blood
4	chr6:6092000-6092400	Flanking Active TSS	GM12878-XiMat	blood
5	chr6:6092400-6092800	Enhancers	GM12878-XiMat	blood
6	chr6:6121800-6122400	Enhancers	Spleen	Spleen
7	chr6:6138800-6139200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:6138800-6139400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:6139200-6139400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr6:6139200-6139600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:6142200-6143800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:6142400-6144600	Weak transcription	Adipose Nuclei	Adipose
13	chr6:6142400-6144600	Weak transcription	HSMM	muscle
14	chr6:6142800-6144600	Weak transcription	HSMMtube	muscle
15	chr6:6143200-6143800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr6:6143800-6144000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr6:6143800-6145800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr6:6144000-6163600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr6:6144200-6151600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:6144600-6144800	Strong transcription	Adipose Nuclei	Adipose
21	chr6:6144600-6145000	Strong transcription	HSMM	muscle
22	chr6:6144600-6147400	Strong transcription	HSMMtube	muscle
23	chr6:6144800-6145000	Weak transcription	Adipose Nuclei	Adipose
24	chr6:6145000-6145800	Weak transcription	Placenta	Placenta
25	chr6:6145000-6146400	Strong transcription	Adipose Nuclei	Adipose
26	chr6:6145000-6179800	Weak transcription	HSMM	muscle
27	chr6:6145800-6146800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
28	chr6:6145800-6146800	ZNF genes & repeats	Placenta	Placenta
29	chr6:6146400-6148600	Weak transcription	Adipose Nuclei	Adipose
30	chr6:6146800-6160200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr6:6146800-6200400	Weak transcription	Placenta	Placenta
32	chr6:6147400-6148400	Weak transcription	HSMMtube	muscle
33	chr6:6148200-6149400	Enhancers	Liver	Liver
34	chr6:6148400-6156200	Strong transcription	HSMMtube	muscle
35	chr6:6148600-6150200	Strong transcription	Adipose Nuclei	Adipose
36	chr6:6149400-6151400	Weak transcription	Liver	Liver
37	chr6:6150200-6151800	Weak transcription	Adipose Nuclei	Adipose
38	chr6:6151400-6153200	Enhancers	Liver	Liver
39	chr6:6151800-6153200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:6151800-6154000	Enhancers	Adipose Nuclei	Adipose
41	chr6:6152000-6152200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:6152000-6152800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:6152200-6152400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:6152200-6152600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:6152400-6152600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:6152400-6152800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:6152600-6153000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr6:6153000-6153400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:6153200-6154200	Weak transcription	Liver	Liver
50	chr6:6153200-6155600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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