Variant report

Variant	nsv429842
Chromosome Location	chr8:3663940-3731867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:3675597..3677848-chr8:3833927..3836270,2	K562	blood:
2	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:
3	chr8:3690563..3692155-chr8:3696765..3699016,2	K562	blood:
4	chr8:3666135..3668628-chr8:3668969..3670957,2	K562	blood:
5	chr8:3667541..3670301-chr8:3671592..3673613,2	K562	blood:
6	chr8:3667541..3670301-chr8:3671592..3673613,2	K562	blood:
7	chr8:3666135..3668628-chr8:3668969..3670957,2	K562	blood:

Extended variants
information (count: 2907 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:2907 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6998283	chr8:3663940-3663941	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563511015	chr8:3663949-3663950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61091842	chr8:3663950-3663951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139670962	chr8:3663967-3663968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7015612	chr8:3663971-3663972	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs187849768	chr8:3663981-3663982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547069925	chr8:3663983-3663984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566000962	chr8:3663993-3663994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116334862	chr8:3663994-3663995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551626564	chr8:3664000-3664001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577927641	chr8:3664022-3664023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553157697	chr8:3664035-3664036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540597109	chr8:3664042-3664043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192956994	chr8:3664043-3664044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537541962	chr8:3664048-3664049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1481724	chr8:3664060-3664061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183465727	chr8:3664071-3664072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553911029	chr8:3664075-3664076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142979467	chr8:3664093-3664094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79730130	chr8:3664099-3664100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115704733	chr8:3664123-3664124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577937099	chr8:3664129-3664130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545261138	chr8:3664137-3664138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369174735	chr8:3664142-3664143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74977414	chr8:3664146-3664147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2720882	chr8:3664169-3664170	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs186687076	chr8:3664232-3664233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76161357	chr8:3664233-3664234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528966989	chr8:3664234-3664235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541051692	chr8:3664258-3664259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559365199	chr8:3664283-3664284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533283279	chr8:3664284-3664285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148799689	chr8:3664301-3664302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569960101	chr8:3664304-3664305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111230241	chr8:3664307-3664308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548887885	chr8:3664312-3664313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567774924	chr8:3664318-3664319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76643744	chr8:3664321-3664322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546987640	chr8:3664327-3664328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571267097	chr8:3664346-3664347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538950161	chr8:3664349-3664350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6420215	chr8:3664367-3664368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377084348	chr8:3664387-3664388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564187343	chr8:3664390-3664391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs151246927	chr8:3664391-3664392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184863962	chr8:3664395-3664396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537442845	chr8:3664402-3664403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs41350751	chr8:3664428-3664429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs559403394	chr8:3664442-3664443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139912860	chr8:3664453-3664454	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	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
Oral cancer	21386901	CNVD
Prostate cancer	21088497	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
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
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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD
Osteosarcoma	21215367	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3661600-3664000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:3661800-3664000	Weak transcription	HMEC	breast
3	chr8:3663800-3666800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:3664000-3665600	Enhancers	HMEC	breast
5	chr8:3664000-3666800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:3664400-3665600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:3665000-3665600	Enhancers	Fetal Brain Male	brain
8	chr8:3665600-3666600	Enhancers	Liver	Liver
9	chr8:3666600-3668000	Weak transcription	Liver	Liver
10	chr8:3667400-3669200	Enhancers	Fetal Intestine Small	intestine
11	chr8:3667600-3669600	Enhancers	Fetal Intestine Large	intestine
12	chr8:3668000-3668200	Enhancers	Liver	Liver
13	chr8:3668000-3669400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr8:3668200-3668600	Weak transcription	Liver	Liver
15	chr8:3668600-3669400	Enhancers	Liver	Liver
16	chr8:3668600-3670600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:3668800-3669200	Enhancers	Duodenum Mucosa	Duodenum
18	chr8:3670000-3670600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:3672400-3676000	Weak transcription	Fetal Brain Male	brain
20	chr8:3673400-3673600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr8:3673400-3673600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr8:3673400-3674000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr8:3673400-3674600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:3673600-3674000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:3673600-3674000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:3673800-3674000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr8:3674000-3681600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:3675600-3676600	Enhancers	Liver	Liver
29	chr8:3676000-3676400	Enhancers	Fetal Brain Male	brain
30	chr8:3676200-3676400	Enhancers	Dnd41	blood
31	chr8:3676400-3676600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr8:3676400-3676800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:3679200-3679800	Enhancers	Colonic Mucosa	Colon
34	chr8:3679600-3680200	Enhancers	Fetal Kidney	kidney
35	chr8:3679800-3683000	Weak transcription	Colonic Mucosa	Colon
36	chr8:3680000-3680600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:3681600-3682200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:3681800-3682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:3682000-3682600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:3682200-3683200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:3682600-3684200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:3683000-3683200	Enhancers	Colonic Mucosa	Colon
43	chr8:3683200-3684200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:3694400-3695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:3694800-3695200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:3695600-3695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:3697200-3697400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:3700000-3701600	Enhancers	Fetal Intestine Small	intestine
49	chr8:3704800-3708200	Enhancers	Fetal Intestine Small	intestine
50	chr8:3705200-3705400	Enhancers	Duodenum Mucosa	Duodenum

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