Variant report

Variant	nsv1027534
Chromosome Location	chr6:12858048-12877597
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:12871173..12873081-chr6:12890185..12892333,2	K562	blood:
2	chr6:12869699..12871951-chr6:12874630..12877257,2	MCF-7	breast:
3	chr6:12863028..12864927-chr6:12865342..12867413,2	MCF-7	breast:
4	chr6:12863028..12864927-chr6:12865342..12867413,2	MCF-7	breast:
5	chr6:12850332..12852613-chr6:12857347..12858896,2	K562	blood:
6	chr6:12864394..12867910-chr6:12868654..12871064,3	MCF-7	breast:
7	chr6:12859448..12861530-chr6:12863983..12865942,2	K562	blood:
8	chr6:12863378..12865957-chr6:12874022..12876094,2	K562	blood:
9	chr6:12869699..12871951-chr6:12874630..12877257,2	MCF-7	breast:
10	chr6:12863378..12865957-chr6:12874022..12876094,2	K562	blood:
11	chr6:12860458..12863144-chr6:12869628..12871979,2	MCF-7	breast:
12	chr6:12859448..12861530-chr6:12863983..12865942,2	K562	blood:
13	chr6:12871173..12873614-chr6:12890833..12893563,2	K562	blood:
14	chr6:12871769..12874405-chr6:12875673..12879485,3	K562	blood:
15	chr6:12857977..12859701-chr6:12862061..12865046,2	K562	blood:
16	chr6:12871769..12874405-chr6:12875673..12879485,3	K562	blood:
17	chr6:12864394..12867910-chr6:12868654..12871064,3	MCF-7	breast:
18	chr6:12857977..12859701-chr6:12862061..12865046,2	K562	blood:
19	chr6:12860458..12863144-chr6:12869628..12871979,2	MCF-7	breast:

No data

Extended variants
information (count: 777 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:777 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552752889	chr6:12858081-12858082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572748719	chr6:12858096-12858097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7747760	chr6:12858201-12858202	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs561684214	chr6:12858207-12858208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7748950	chr6:12858223-12858224	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs577624997	chr6:12858224-12858225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13198167	chr6:12858242-12858243	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs116752699	chr6:12858280-12858281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140402670	chr6:12858281-12858282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150369577	chr6:12858299-12858300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563267802	chr6:12858312-12858313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184585588	chr6:12858319-12858320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9296493	chr6:12858388-12858389	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138723480	chr6:12858394-12858395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571151381	chr6:12858400-12858401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549682641	chr6:12858405-12858406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141916881	chr6:12858424-12858425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9283914	chr6:12858459-12858460	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551766595	chr6:12858465-12858466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571605134	chr6:12858529-12858530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367921029	chr6:12858568-12858569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553889657	chr6:12858569-12858570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542252509	chr6:12858589-12858590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188555821	chr6:12858591-12858592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535297569	chr6:12858601-12858602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555216796	chr6:12858611-12858612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575513023	chr6:12858626-12858627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543822484	chr6:12858686-12858687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564109947	chr6:12858690-12858691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577610482	chr6:12858703-12858704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181442107	chr6:12858717-12858718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145735826	chr6:12858725-12858726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72835698	chr6:12858776-12858777	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs541568019	chr6:12858794-12858795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564536174	chr6:12858840-12858841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533437248	chr6:12858841-12858842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549619498	chr6:12858850-12858851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142983800	chr6:12858883-12858884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532037106	chr6:12858889-12858890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35621699	chr6:12858904-12858905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs57824354	chr6:12858970-12858971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199776775	chr6:12859015-12859016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185927673	chr6:12859022-12859023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35797103	chr6:12859040-12859041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371875484	chr6:12859041-12859042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547466573	chr6:12859045-12859046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72326748	chr6:12859047-12859048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77050403	chr6:12859058-12859059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62389899	chr6:12859059-12859060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58764374	chr6:12859082-12859083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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	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
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
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Breast cancer	21990379	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12849800-12867000	Weak transcription	Brain Anterior Caudate	brain
2	chr6:12852000-12866000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:12853400-12870000	Weak transcription	Brain Germinal Matrix	brain
4	chr6:12858200-12858800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:12865200-12866200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:12865400-12867800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:12865600-12866200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:12865800-12866000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:12865800-12866200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:12865800-12867200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr6:12865800-12867200	Weak transcription	Fetal Brain Male	brain
12	chr6:12865800-12867800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:12866000-12866200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:12866000-12867400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:12866000-12867600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:12866000-12867800	Enhancers	H9 Cell Line	embryonic stem cell
17	chr6:12866000-12867800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr6:12866200-12866400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr6:12866200-12866600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:12866200-12866600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:12866200-12866600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:12866200-12866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:12866200-12867600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:12866200-12868000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:12866200-12868000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr6:12866400-12866800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr6:12866400-12867400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:12866400-12867400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr6:12866600-12866800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr6:12866600-12867200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr6:12866600-12867200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:12866600-12868400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:12866800-12867200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:12866800-12867200	Enhancers	Fetal Brain Female	brain
35	chr6:12866800-12867400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr6:12866800-12867400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:12867000-12867400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr6:12867000-12867600	Enhancers	Brain Anterior Caudate	brain
39	chr6:12867200-12867600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:12867200-12868000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:12867200-12873600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:12867200-12874800	Weak transcription	Fetal Brain Female	brain
43	chr6:12867400-12867800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr6:12867400-12887600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:12867600-12869400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr6:12867600-12886800	Weak transcription	Brain Anterior Caudate	brain
47	chr6:12867800-12869600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:12867800-12876800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:12869800-12870000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:12870000-12870400	Enhancers	Brain Germinal Matrix	brain

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