Variant report

Variant	nsv6349
Chromosome Location	chr8:112803284-112840636
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:7)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:112438643..112439991-chr8:112809151..112809703,4	MCF-7	breast:
2	chr8:112248265..112249043-chr8:112809213..112809738,2	MCF-7	breast:
3	chr8:112456153..112457084-chr8:112809101..112810085,7	MCF-7	breast:
4	chr8:112471086..112471839-chr8:112809518..112810102,2	MCF-7	breast:
5	chr8:112455862..112457106-chr8:112809020..112809893,6	MCF-7	breast:
6	chr8:112439221..112439930-chr8:112809136..112809948,2	MCF-7	breast:
7	chr8:112437770..112438280-chr8:112809131..112809707,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-67H2.1.1-7	chr8:112837915-112838389	l_3669_chr8:112823382-112827015_testes
2	lnc-RP11-67H2.1.1-7	chr8:112837712-112837805	l_3669_chr8:112823382-112827015_testes
3	lnc-RP11-67H2.1.1-7	chr8:112823383-112823488	l_3669_chr8:112823382-112827015_testes
4	lnc-RP11-67H2.1.1-7	chr8:112826847-112827015	l_3669_chr8:112823382-112827015_testes

No data

Variant related genes	Relation type
ENSG00000253103	chromatin interactions

Extended variants
information (count: 378 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568294739	chr8:112803322-112803323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1510564	chr8:112803371-112803372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376042268	chr8:112803421-112803422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111858325	chr8:112803437-112803438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570573858	chr8:112803453-112803454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs992954	chr8:112803459-112803460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186620781	chr8:112803466-112803467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576369312	chr8:112803531-112803532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199789296	chr8:112803532-112803533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190276269	chr8:112803543-112803544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555728079	chr8:112803561-112803562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572253921	chr8:112803576-112803577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541258700	chr8:112803636-112803637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560376950	chr8:112803669-112803670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201090416	chr8:112803707-112803708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577268650	chr8:112803727-112803728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs992953	chr8:112803730-112803731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs4876881	chr8:112803755-112803756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs531625572	chr8:112803759-112803760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548460036	chr8:112803786-112803787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562088000	chr8:112803803-112803804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527878687	chr8:112803812-112803813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4876882	chr8:112803815-112803816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs182643849	chr8:112803843-112803844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568390156	chr8:112803868-112803869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187671868	chr8:112803910-112803911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73704869	chr8:112803916-112803917	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375969090	chr8:112803937-112803938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569646375	chr8:112803974-112803975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535476922	chr8:112803999-112804000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80092845	chr8:112804010-112804011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369861140	chr8:112804023-112804024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111421149	chr8:112804073-112804074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs67446247	chr8:112804075-112804076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs398086914	chr8:112804081-112804082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5894061	chr8:112804082-112804083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs13272367	chr8:112804108-112804109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566023788	chr8:112804113-112804114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147856955	chr8:112804119-112804120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193065219	chr8:112804160-112804161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577230901	chr8:112804194-112804195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546258990	chr8:112804244-112804245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556275126	chr8:112804264-112804265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577118098	chr8:112804278-112804279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576022015	chr8:112804284-112804285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs979733	chr8:112804384-112804385	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561998316	chr8:112804409-112804410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527998237	chr8:112804412-112804413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541234057	chr8:112804454-112804455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564725118	chr8:112804487-112804488	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112803200-112803400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr8:112803400-112803800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:112803800-112804400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:112803800-112804800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:112804000-112804600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr8:112808400-112808800	Enhancers	Brain Germinal Matrix	brain
7	chr8:112809400-112809600	Enhancers	Fetal Kidney	kidney
8	chr8:112809400-112809800	Enhancers	Brain Anterior Caudate	brain
9	chr8:112809400-112809800	Active TSS	Fetal Brain Male	brain
10	chr8:112816200-112816600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:112816600-112817800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:112817200-112818400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:112817200-112818800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:112817400-112817800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:112817400-112818000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:112817400-112818200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:112817400-112818600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr8:112817400-112819000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:112817600-112818400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:112817800-112818200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr8:112817800-112818600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:112818000-112818200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:112818000-112818400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:112818200-112818600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr8:112818200-112820000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:112818600-112820000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:112819800-112820200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:112820000-112820200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:112820000-112820600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr8:112826200-112826800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:112826400-112826600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr8:112826400-112826800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:112826600-112826800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr8:112827400-112827600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:112832800-112834000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr8:112833200-112833600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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