Variant report

Variant	nsv830608
Chromosome Location	chr6:23558655-23644405
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	chr6:23571265..23571916-chr6:23611611..23612158,2	MCF-7	breast:
2	chr6:23584056..23584725-chr6:23611938..23612497,2	MCF-7	breast:
3	chr6:23571265..23571916-chr6:23611611..23612158,2	MCF-7	breast:
4	chr6:23599132..23601541-chr6:23601911..23604047,2	MCF-7	breast:
5	chr6:23588969..23590584-chr6:23597216..23599632,2	MCF-7	breast:
6	chr6:23566113..23568244-chr6:23571080..23573396,2	K562	blood:
7	chr6:23566113..23568244-chr6:23571080..23573396,2	K562	blood:
8	chr6:23599132..23601541-chr6:23601911..23604047,2	MCF-7	breast:
9	chr6:23584056..23584725-chr6:23611938..23612497,2	MCF-7	breast:
10	chr6:23599143..23600711-chr6:23603983..23605772,2	K562	blood:
11	chr6:23599143..23600711-chr6:23603983..23605772,2	K562	blood:
12	chr6:23588969..23590584-chr6:23597216..23599632,2	MCF-7	breast:

No data

Extended variants
information (count: 2169 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2169 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182245933	chr6:23558700-23558701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538977077	chr6:23558751-23558752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77380065	chr6:23558800-23558801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9466812	chr6:23558832-23558833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs187273175	chr6:23558844-23558845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567939822	chr6:23558876-23558877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535161393	chr6:23558907-23558908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558689262	chr6:23558908-23558909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189917098	chr6:23558958-23558959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368628874	chr6:23558959-23558960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545555469	chr6:23558972-23558973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572003570	chr6:23558984-23558985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180707753	chr6:23558993-23558994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559163434	chr6:23559005-23559006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185728067	chr6:23559006-23559007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115201076	chr6:23559018-23559019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530873003	chr6:23559078-23559079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2328765	chr6:23559114-23559115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs199130	chr6:23559146-23559147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542342063	chr6:23559147-23559148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369428703	chr6:23559167-23559168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527647004	chr6:23559175-23559176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190440213	chr6:23559183-23559184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369817463	chr6:23559231-23559232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372753253	chr6:23559251-23559252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs113598649	chr6:23559253-23559254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531480163	chr6:23559274-23559275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74875029	chr6:23559288-23559289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9466814	chr6:23559319-23559320	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs534624874	chr6:23559335-23559336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553405158	chr6:23559347-23559348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199129	chr6:23559354-23559355	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183239298	chr6:23559366-23559367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114432077	chr6:23559369-23559370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142083050	chr6:23559397-23559398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538530958	chr6:23559483-23559484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188515991	chr6:23559485-23559486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1555072	chr6:23559487-23559488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs2328766	chr6:23559505-23559506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560602384	chr6:23559513-23559514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191755539	chr6:23559564-23559565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9466815	chr6:23559566-23559567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9466816	chr6:23559581-23559582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs531633200	chr6:23559612-23559613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549661055	chr6:23559622-23559623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539780856	chr6:23559623-23559624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561650228	chr6:23559659-23559660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73379881	chr6:23559660-23559661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74767452	chr6:23559762-23559763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147772172	chr6:23559771-23559772	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
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
Ovarian cancer	21720365	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
Tetralogy of Fallot	22912587	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23555400-23559200	Weak transcription	Fetal Intestine Large	intestine
2	chr6:23559200-23560400	Enhancers	Fetal Intestine Small	intestine
3	chr6:23559200-23560800	Enhancers	Fetal Intestine Large	intestine
4	chr6:23559600-23560000	Enhancers	Liver	Liver
5	chr6:23559800-23560200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr6:23559800-23560600	Enhancers	Duodenum Mucosa	Duodenum
7	chr6:23559800-23560600	Enhancers	HepG2	liver
8	chr6:23559800-23560800	Enhancers	Colonic Mucosa	Colon
9	chr6:23559800-23560800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr6:23560000-23560400	Enhancers	Fetal Lung	lung
11	chr6:23560000-23560600	Enhancers	Pancreas	Pancrea
12	chr6:23560000-23560800	Enhancers	Adipose Nuclei	Adipose
13	chr6:23560000-23560800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr6:23560000-23561000	Flanking Active TSS	Liver	Liver
15	chr6:23560200-23560400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:23560200-23560600	Enhancers	Gastric	stomach
17	chr6:23560200-23560800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr6:23560400-23560800	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr6:23560600-23562000	Weak transcription	Pancreas	Pancrea
20	chr6:23560800-23561800	Weak transcription	Adipose Nuclei	Adipose
21	chr6:23561000-23561800	Weak transcription	Liver	Liver
22	chr6:23561200-23562400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:23561400-23562200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr6:23561800-23562200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr6:23561800-23562400	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr6:23561800-23562600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:23561800-23562800	ZNF genes & repeats	Liver	Liver
28	chr6:23562000-23562200	ZNF genes & repeats	Pancreas	Pancrea
29	chr6:23562000-23562400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:23578800-23579400	Enhancers	Fetal Intestine Small	intestine
31	chr6:23578800-23579600	Enhancers	Duodenum Mucosa	Duodenum
32	chr6:23578800-23579600	Enhancers	Fetal Intestine Large	intestine
33	chr6:23579400-23583600	Weak transcription	Fetal Intestine Small	intestine
34	chr6:23579600-23584000	Weak transcription	Fetal Intestine Large	intestine
35	chr6:23579600-23584400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr6:23582400-23585000	Active TSS	Liver	Liver
37	chr6:23582800-23583000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:23583000-23583200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr6:23583000-23584000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:23583200-23585800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:23583600-23583800	Enhancers	Fetal Intestine Small	intestine
42	chr6:23583800-23584200	Weak transcription	Fetal Intestine Small	intestine
43	chr6:23583800-23584400	Enhancers	HepG2	liver
44	chr6:23583800-23585400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:23584000-23584200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:23584000-23585400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:23584000-23585400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr6:23584000-23585600	Enhancers	Fetal Intestine Large	intestine
49	chr6:23584200-23585200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:23584200-23585400	Enhancers	Fetal Intestine Small	intestine

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