Variant report

Variant	nsv1009878
Chromosome Location	chr3:191188488-191226583
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:191219513..191222335-chr3:191222361..191224281,2	MCF-7	breast:
2	chr3:191145766..191148014-chr3:191221969..191224844,2	K562	blood:
3	chr3:191224872..191227257-chr3:191228159..191230428,2	K562	blood:
4	chr3:191210173..191212267-chr3:191228106..191229922,2	K562	blood:
5	chr3:191161495..191163319-chr3:191214944..191216850,2	K562	blood:
6	chr3:191220103..191221050-chr3:191527147..191528017,3	MCF-7	breast:
7	chr3:191187730..191193827-chr3:191193854..191197117,6	K562	blood:
8	chr3:191186829..191191395-chr3:191192771..191196675,4	K562	blood:
9	chr3:191225898..191226670-chr7:134967404..134968269,2	MCF-7	breast:
10	chr3:191186829..191191395-chr3:191192771..191196675,4	K562	blood:
11	chr3:191194345..191196125-chr3:191201335..191204091,2	K562	blood:
12	chr3:191223279..191226273-chr3:191227668..191229935,2	K562	blood:
13	chr3:191202788..191205385-chr3:191217397..191220401,3	K562	blood:
14	chr3:191144312..191145933-chr3:191218364..191220735,2	K562	blood:
15	chr3:191225876..191227408-chr3:191230738..191233284,2	K562	blood:
16	chr3:191202788..191205385-chr3:191217397..191220401,3	K562	blood:
17	chr3:191194345..191196125-chr3:191201335..191204091,2	K562	blood:
18	chr3:191150064..191152045-chr3:191218500..191220211,2	K562	blood:
19	chr3:191220889..191222915-chr3:191232915..191235559,2	K562	blood:
20	chr3:191220446..191222407-chr3:191229444..191232369,2	K562	blood:
21	chr3:191219513..191222335-chr3:191222361..191224281,2	MCF-7	breast:
22	chr3:191142943..191145489-chr3:191191004..191192799,2	MCF-7	breast:
23	chr3:191158609..191160577-chr3:191193167..191196023,2	K562	blood:
24	chr3:191187730..191193827-chr3:191193854..191197117,6	K562	blood:

No data

Extended variants
information (count: 1384 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1384 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs445237	chr3:191188488-191188489	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367850584	chr3:191188497-191188498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560152136	chr3:191188500-191188501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529079682	chr3:191188503-191188504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs425783	chr3:191188522-191188523	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs145192566	chr3:191188533-191188534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs422820	chr3:191188547-191188548	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551021395	chr3:191188549-191188550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115304397	chr3:191188561-191188562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533319637	chr3:191188563-191188564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs115390720	chr3:191188580-191188581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566956790	chr3:191188590-191188591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368044469	chr3:191188639-191188640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559371469	chr3:191188653-191188654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56249155	chr3:191188730-191188731	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149229240	chr3:191188731-191188732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569236832	chr3:191188737-191188738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538169560	chr3:191188814-191188815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557996930	chr3:191188816-191188817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398498	chr3:191188832-191188833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540177236	chr3:191188881-191188882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114832238	chr3:191188883-191188884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573670086	chr3:191188904-191188905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542488738	chr3:191188920-191188921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73189559	chr3:191188932-191188933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs531504628	chr3:191188984-191188985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191934897	chr3:191189021-191189022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143386174	chr3:191189038-191189039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146856028	chr3:191189057-191189058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546965392	chr3:191189061-191189062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71312418	chr3:191189089-191189090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368738877	chr3:191189098-191189099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548550627	chr3:191189103-191189104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529366570	chr3:191189106-191189107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549040117	chr3:191189115-191189116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569124820	chr3:191189119-191189120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs431446	chr3:191189132-191189133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558031846	chr3:191189165-191189166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571905206	chr3:191189196-191189197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533592652	chr3:191189197-191189198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553710829	chr3:191189211-191189212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140676422	chr3:191189230-191189231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536372742	chr3:191189235-191189236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145762237	chr3:191189274-191189275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs412525	chr3:191189293-191189294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs431095	chr3:191189310-191189311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs386669611	chr3:191189333-191189334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141180037	chr3:191189335-191189336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs447463	chr3:191189361-191189362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150310147	chr3:191189409-191189410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191175400-191190200	Weak transcription	K562	blood
2	chr3:191186400-191188800	Enhancers	Fetal Lung	lung
3	chr3:191188000-191188800	Enhancers	Fetal Muscle Leg	muscle
4	chr3:191188000-191188800	Enhancers	Ovary	ovary
5	chr3:191188800-191193400	Weak transcription	Fetal Lung	lung
6	chr3:191190200-191191400	Enhancers	K562	blood
7	chr3:191191200-191192000	Enhancers	Hela-S3	cervix
8	chr3:191191400-191191600	Flanking Active TSS	K562	blood
9	chr3:191191600-191192000	Enhancers	K562	blood
10	chr3:191192000-191192400	Weak transcription	Hela-S3	cervix
11	chr3:191192000-191193400	Weak transcription	K562	blood
12	chr3:191192400-191194800	Enhancers	Hela-S3	cervix
13	chr3:191193400-191194000	Enhancers	Fetal Lung	lung
14	chr3:191193400-191194000	Enhancers	K562	blood
15	chr3:191194000-191194400	Weak transcription	Fetal Lung	lung
16	chr3:191194000-191195000	Genic enhancers	K562	blood
17	chr3:191194200-191194800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr3:191194200-191194800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr3:191194200-191195000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:191194200-191195600	Enhancers	Stomach Mucosa	stomach
21	chr3:191194400-191195000	Enhancers	Fetal Lung	lung
22	chr3:191195000-191216600	Weak transcription	K562	blood
23	chr3:191195600-191201600	Weak transcription	Stomach Mucosa	stomach
24	chr3:191198000-191201800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:191201600-191202800	Enhancers	Stomach Mucosa	stomach
26	chr3:191201800-191203200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:191202000-191202800	Enhancers	NHEK	skin
28	chr3:191202000-191203400	Enhancers	HMEC	breast
29	chr3:191202200-191202600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:191202200-191202600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:191202200-191202600	Enhancers	Hela-S3	cervix
32	chr3:191202400-191202600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:191208400-191209600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:191209200-191210000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:191209600-191210000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr3:191209800-191211000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:191209800-191211000	Enhancers	HMEC	breast
38	chr3:191209800-191211800	Enhancers	Fetal Lung	lung
39	chr3:191210000-191211400	Enhancers	Fetal Heart	heart
40	chr3:191210200-191210800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:191210400-191210800	Enhancers	NHEK	skin
42	chr3:191211400-191216800	Weak transcription	Fetal Heart	heart
43	chr3:191211800-191217000	Weak transcription	Fetal Lung	lung
44	chr3:191216600-191217200	Enhancers	K562	blood
45	chr3:191216800-191217400	Enhancers	Fetal Heart	heart
46	chr3:191217000-191217200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:191217000-191217200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr3:191217000-191217200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:191217000-191217200	Enhancers	Fetal Lung	lung
50	chr3:191217000-191217200	Enhancers	HMEC	breast

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