Variant report

Variant	nsv611087
Chromosome Location	chr8:39865891-39884574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:26115870..26116795-chr8:39868859..39869559,2	MCF-7	breast:

Extended variants
information (count: 785 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:785 , 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	rs2955886	chr8:39865891-39865892	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2955887	chr8:39865909-39865910	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369681434	chr8:39865940-39865941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7017498	chr8:39865960-39865961	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141531551	chr8:39865977-39865978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546649710	chr8:39866001-39866002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537346872	chr8:39866010-39866011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145744231	chr8:39866028-39866029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs57956052	chr8:39866060-39866061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs73605122	chr8:39866112-39866113	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs537125880	chr8:39866137-39866138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576657865	chr8:39866202-39866203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181313385	chr8:39866209-39866210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7842669	chr8:39866225-39866226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541951083	chr8:39866307-39866308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60497295	chr8:39866335-39866336	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186080085	chr8:39866339-39866340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114348063	chr8:39866377-39866378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143049063	chr8:39866388-39866389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112213851	chr8:39866392-39866393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562149376	chr8:39866399-39866400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34069458	chr8:39866418-39866419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2981147	chr8:39866466-39866467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs549269413	chr8:39866467-39866468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149551061	chr8:39866524-39866525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56020913	chr8:39866525-39866526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142384562	chr8:39866539-39866540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs36022544	chr8:39866546-39866547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs397693084	chr8:39866549-39866550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560701084	chr8:39866560-39866561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528172581	chr8:39866564-39866565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190746322	chr8:39866565-39866566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183312940	chr8:39866572-39866573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2955888	chr8:39866573-39866574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs550802810	chr8:39866582-39866583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370463810	chr8:39866586-39866587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539384856	chr8:39866587-39866588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186320847	chr8:39866590-39866591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546370082	chr8:39866595-39866596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566379846	chr8:39866635-39866636	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551207256	chr8:39866659-39866660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs535544971	chr8:39866671-39866672	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs569504169	chr8:39866694-39866695	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555588997	chr8:39866695-39866696	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs2981148	chr8:39866734-39866735	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537875530	chr8:39866773-39866774	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs558395147	chr8:39866781-39866782	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149386108	chr8:39866834-39866835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2981149	chr8:39866924-39866925	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75461635	chr8:39866970-39866971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39850600-39872800	Weak transcription	Right Atrium	heart
2	chr8:39863400-39866600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:39864600-39868400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:39865600-39866600	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr8:39866200-39868000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:39866400-39868000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:39866600-39866800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr8:39866600-39867400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:39866800-39867000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr8:39866800-39867800	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:39867000-39867600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr8:39867600-39868000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:39867600-39868000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:39867600-39868400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr8:39867800-39868000	Enhancers	Colon Smooth Muscle	Colon
16	chr8:39868000-39869400	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:39868000-39870200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:39868000-39879400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:39869200-39870200	Enhancers	Stomach Smooth Muscle	stomach
20	chr8:39869200-39871800	Enhancers	Ovary	ovary
21	chr8:39869400-39869600	Enhancers	Right Ventricle	heart
22	chr8:39869400-39870400	Enhancers	Fetal Muscle Leg	muscle
23	chr8:39869400-39870400	Enhancers	Left Ventricle	heart
24	chr8:39869400-39871800	Enhancers	Fetal Stomach	stomach
25	chr8:39869400-39872200	Enhancers	Colon Smooth Muscle	Colon
26	chr8:39869600-39874400	Weak transcription	Right Ventricle	heart
27	chr8:39870000-39870600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:39870200-39870400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:39870200-39870600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr8:39870200-39872800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:39870200-39873600	Enhancers	Fetal Lung	lung
32	chr8:39870400-39871000	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:39870400-39871000	Enhancers	Rectal Smooth Muscle	rectum
34	chr8:39870800-39872400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:39871000-39871200	Enhancers	Fetal Muscle Leg	muscle
36	chr8:39871000-39871400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:39871200-39873000	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:39871400-39872400	Enhancers	Rectal Smooth Muscle	rectum
39	chr8:39871800-39873000	Weak transcription	Ovary	ovary
40	chr8:39872000-39872400	Enhancers	A549	lung
41	chr8:39872800-39873000	Enhancers	Stomach Smooth Muscle	stomach
42	chr8:39872800-39873200	Enhancers	Fetal Muscle Trunk	muscle
43	chr8:39872800-39873200	Enhancers	Right Atrium	heart
44	chr8:39873000-39873200	Enhancers	Fetal Muscle Leg	muscle
45	chr8:39873000-39873200	Enhancers	Ovary	ovary
46	chr8:39879400-39879800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:39879600-39879800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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