Variant report

Variant	nsv967616
Chromosome Location	chr8:92097255-92099362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92092927..92094497-chr8:92095289..92097717,2	K562	blood:
2	chr8:92094821..92097375-chr8:92098742..92100769,2	MCF-7	breast:
3	chr8:92092927..92094814-chr8:92094943..92097717,2	K562	blood:
4	chr8:92097979..92100337-chr8:92107089..92109633,2	K562	blood:
5	chr8:92094821..92097375-chr8:92098742..92100769,2	MCF-7	breast:
6	chr8:92098468..92101361-chr8:92119773..92121850,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74845571	chr8:92097258-92097259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550040596	chr8:92097309-92097310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539490769	chr8:92097345-92097346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77550841	chr8:92097355-92097356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567123551	chr8:92097361-92097362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188750626	chr8:92097373-92097374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555965431	chr8:92097391-92097392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182324479	chr8:92097410-92097411	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544304854	chr8:92097540-92097541	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73694384	chr8:92097585-92097586	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577561771	chr8:92097641-92097642	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185649051	chr8:92097642-92097643	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570126730	chr8:92097666-92097667	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560100109	chr8:92097776-92097777	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141301430	chr8:92097779-92097780	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75593631	chr8:92097802-92097803	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560726373	chr8:92097883-92097884	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572517188	chr8:92097912-92097913	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531436202	chr8:92097935-92097936	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180792439	chr8:92097952-92097953	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551920191	chr8:92097986-92097987	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185195505	chr8:92097991-92097992	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190300400	chr8:92098086-92098087	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538912128	chr8:92098161-92098162	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551445832	chr8:92098259-92098260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7834012	chr8:92098266-92098267	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs534470990	chr8:92098287-92098288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540181340	chr8:92098295-92098296	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143760242	chr8:92098313-92098314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567845873	chr8:92098363-92098364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79261208	chr8:92098369-92098370	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181094692	chr8:92098418-92098419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559150294	chr8:92098421-92098422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116297926	chr8:92098454-92098455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79783104	chr8:92098477-92098478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553461320	chr8:92098500-92098501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561525288	chr8:92098517-92098518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571737241	chr8:92098518-92098519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575120178	chr8:92098556-92098557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186279779	chr8:92098576-92098577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191801511	chr8:92098601-92098602	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184040256	chr8:92098767-92098768	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188977804	chr8:92098862-92098863	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371889846	chr8:92098909-92098910	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549410847	chr8:92098946-92098947	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531095606	chr8:92099003-92099004	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191877119	chr8:92099027-92099028	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551875286	chr8:92099093-92099094	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146853113	chr8:92099254-92099255	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375530765	chr8:92099255-92099256	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083200-92113200	Weak transcription	Esophagus	oesophagus
3	chr8:92083400-92103600	Weak transcription	Aorta	Aorta
4	chr8:92083400-92103600	Weak transcription	Lung	lung
5	chr8:92083400-92124400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:92083600-92103600	Weak transcription	Gastric	stomach
7	chr8:92083600-92109800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:92083600-92112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:92083600-92113000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:92083600-92114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
12	chr8:92083800-92103400	Weak transcription	Colonic Mucosa	Colon
13	chr8:92084000-92097400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr8:92084000-92097800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:92084000-92098600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:92084000-92103600	Strong transcription	HSMM	muscle
17	chr8:92084000-92104000	Weak transcription	Thymus	Thymus
18	chr8:92084000-92107600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:92084000-92124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr8:92084200-92098400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:92084200-92104800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:92084200-92111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:92084400-92097600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr8:92084600-92097600	Strong transcription	HMEC	breast
25	chr8:92084600-92100400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:92084600-92105800	Weak transcription	Fetal Brain Male	brain
27	chr8:92084800-92098000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:92084800-92098200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr8:92084800-92099400	Strong transcription	Liver	Liver
30	chr8:92084800-92109000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr8:92085000-92125800	Weak transcription	Small Intestine	intestine
32	chr8:92085400-92101200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:92086400-92100800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:92087000-92104000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:92087400-92101000	Weak transcription	Fetal Brain Female	brain
36	chr8:92087600-92107400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:92087800-92098200	Strong transcription	HUVEC	blood vessel
38	chr8:92087800-92098400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:92087800-92098600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:92087800-92099600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:92088000-92097800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:92088000-92111600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr8:92088400-92098600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:92088400-92104800	Strong transcription	Primary B cells from cord blood	blood
45	chr8:92088800-92105800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:92089000-92099800	Weak transcription	Stomach Mucosa	stomach
47	chr8:92089000-92101800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr8:92089000-92108000	Weak transcription	Fetal Heart	heart
49	chr8:92089200-92098600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr8:92089200-92101200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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