Variant report

Variant	nsv822381
Chromosome Location	chr3:191092881-191093420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:191089153..191091755-chr3:191092405..191093970,2	K562	blood:
2	chr3:191084566..191087269-chr3:191092450..191094970,3	MCF-7	breast:
3	chr3:191080948..191083585-chr3:191091535..191093381,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201450559	chr3:191092888-191092889	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200531070	chr3:191092896-191092897	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201472875	chr3:191092948-191092949	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146653620	chr3:191093001-191093002	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150340096	chr3:191093006-191093007	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138153104	chr3:191093019-191093020	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527802654	chr3:191093024-191093025	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115771997	chr3:191093028-191093029	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs199687225	chr3:191093029-191093030	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375874806	chr3:191093045-191093046	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2028572	chr3:191093053-191093054	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs566185695	chr3:191093068-191093069	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567369598	chr3:191093071-191093072	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2028573	chr3:191093080-191093081	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371781270	chr3:191093082-191093083	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142679286	chr3:191093100-191093101	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368899630	chr3:191093102-191093103	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144454149	chr3:191093126-191093127	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570376411	chr3:191093128-191093129	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140411108	chr3:191093147-191093148	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148784496	chr3:191093152-191093153	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2028574	chr3:191093175-191093176	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs373978431	chr3:191093189-191093190	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534593003	chr3:191093190-191093191	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199527848	chr3:191093223-191093224	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574188668	chr3:191093229-191093230	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550615746	chr3:191093264-191093265	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536886962	chr3:191093271-191093272	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75123867	chr3:191093285-191093286	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201801914	chr3:191093288-191093289	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4677728	chr3:191093310-191093311	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs144268061	chr3:191093314-191093315	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572378113	chr3:191093351-191093352	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541413193	chr3:191093373-191093374	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs376689351	chr3:191093375-191093376	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370769473	chr3:191093382-191093383	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4677729	chr3:191093384-191093385	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs530179056	chr3:191093388-191093389	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375958338	chr3:191093396-191093397	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370227079	chr3:191093397-191093398	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373683606	chr3:191093410-191093411	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77846288	chr3:191093419-191093420	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191069800-191096000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
3	chr3:191071400-191094200	Weak transcription	Small Intestine	intestine
4	chr3:191071400-191097400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:191071400-191100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:191072600-191100800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:191074600-191094000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:191074800-191094200	Weak transcription	A549	lung
9	chr3:191075000-191097400	Weak transcription	Thymus	Thymus
10	chr3:191077600-191094200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:191079400-191093000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:191079400-191094200	Weak transcription	Brain Anterior Caudate	brain
13	chr3:191079400-191094800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:191079400-191115800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:191079600-191099200	Weak transcription	Spleen	Spleen
16	chr3:191079600-191116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:191079600-191121200	Weak transcription	Gastric	stomach
18	chr3:191079800-191094200	Weak transcription	Brain Substantia Nigra	brain
19	chr3:191080200-191094600	Weak transcription	Stomach Mucosa	stomach
20	chr3:191080200-191110200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr3:191080200-191118800	Weak transcription	Pancreas	Pancrea
22	chr3:191080600-191094200	Weak transcription	Right Ventricle	heart
23	chr3:191080600-191094400	Weak transcription	Brain Angular Gyrus	brain
24	chr3:191080600-191110400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr3:191081600-191094200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:191083000-191094800	Strong transcription	Liver	Liver
27	chr3:191084200-191094200	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:191085000-191096000	Weak transcription	K562	blood
29	chr3:191085800-191093800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:191087000-191115400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr3:191087400-191093200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:191087800-191093000	Weak transcription	HSMMtube	muscle
33	chr3:191087800-191093800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:191087800-191100000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr3:191087800-191109200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:191088000-191094200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:191088000-191094400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr3:191088000-191094600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:191088000-191109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr3:191088600-191093200	Weak transcription	Brain Germinal Matrix	brain
41	chr3:191088600-191094200	Weak transcription	Fetal Stomach	stomach
42	chr3:191088600-191119600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:191089000-191093000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr3:191089000-191097200	Weak transcription	Fetal Thymus	thymus
45	chr3:191089200-191093000	Weak transcription	Fetal Kidney	kidney
46	chr3:191089200-191093000	Weak transcription	Hela-S3	cervix
47	chr3:191089400-191093000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr3:191089400-191093000	Weak transcription	Fetal Muscle Leg	muscle
49	chr3:191089400-191093000	Weak transcription	NH-A	brain
50	chr3:191089600-191093000	Weak transcription	Rectal Mucosa Donor 31	rectum

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