Variant report

Variant	nsv1009087
Chromosome Location	chr3:177405231-177422275
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:11)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:177412767..177415044-chr3:177421223..177423851,2	MCF-7	breast:
2	chr3:177406547..177408988-chr3:177413155..177415080,2	K562	blood:
3	chr3:177403269..177405370-chr3:177412619..177415162,2	MCF-7	breast:
4	chr3:177406547..177408988-chr3:177413155..177415080,2	K562	blood:
5	chr3:177412767..177415044-chr3:177421223..177423851,2	MCF-7	breast:
6	chr3:177403269..177405370-chr3:177412619..177415162,2	MCF-7	breast:
7	chr3:177396417..177398253-chr3:177403984..177405833,2	MCF-7	breast:
8	chr3:177420301..177421877-chr3:177520246..177522505,2	MCF-7	breast:
9	chr3:177407076..177409234-chr3:177410395..177412106,2	MCF-7	breast:
10	chr3:177407076..177409234-chr3:177410395..177412106,2	MCF-7	breast:
11	chr3:177398506..177400476-chr3:177405856..177408346,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNMB2-4	chr3:177408917-177409022	ENSG00000228561
2	lnc-KCNMB2-4	chr3:177405190-177405376	ENSG00000228561
3	lnc-KCNMB2-4	chr3:177408917-177409038	ENSG00000228561.2
4	lnc-KCNMB2-4	chr3:177405190-177405376	ENSG00000228561.2

No data

Extended variants
information (count: 598 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs937507	chr3:177405231-177405232	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568511693	chr3:177405237-177405238	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs534277530	chr3:177405272-177405273	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs547531755	chr3:177405286-177405287	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs570925946	chr3:177405310-177405311	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs539614166	chr3:177405345-177405346	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs556729902	chr3:177405374-177405375	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs576315115	chr3:177405409-177405410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535692963	chr3:177405415-177405416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554942226	chr3:177405458-177405459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556480370	chr3:177405466-177405467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576374666	chr3:177405496-177405497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540635077	chr3:177405532-177405533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185937070	chr3:177405537-177405538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577690464	chr3:177405543-177405544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6443481	chr3:177405548-177405549	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs75807311	chr3:177405550-177405551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529198877	chr3:177405579-177405580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549338043	chr3:177405601-177405602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559692737	chr3:177405603-177405604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527635950	chr3:177405606-177405607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547789612	chr3:177405608-177405609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574424754	chr3:177405616-177405617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570821111	chr3:177405714-177405715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs67189039	chr3:177405738-177405739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs199936429	chr3:177405762-177405763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550087243	chr3:177405844-177405845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371609853	chr3:177405855-177405856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6779492	chr3:177405918-177405919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144207291	chr3:177405984-177405985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189233004	chr3:177406036-177406037	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs181344190	chr3:177406054-177406055	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs6803889	chr3:177406064-177406065	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs145216536	chr3:177406098-177406099	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs371922442	chr3:177406144-177406145	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs543549245	chr3:177406145-177406146	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs62283348	chr3:177406153-177406154	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573839261	chr3:177406156-177406157	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149110244	chr3:177406167-177406168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs559656114	chr3:177406173-177406174	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs562472779	chr3:177406184-177406185	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs367625277	chr3:177406355-177406356	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531232395	chr3:177406370-177406371	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541048496	chr3:177406384-177406385	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564534093	chr3:177406394-177406395	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs549178077	chr3:177406397-177406398	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs13059117	chr3:177406421-177406422	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs550292522	chr3:177406447-177406448	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs114860524	chr3:177406476-177406477	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs529400609	chr3:177406490-177406491	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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	22032731	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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Cancer	20164920	CNVD
Endometrial cancer	19261849	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Esophageal squamous carcinoma	17470683	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177392000-177405400	Weak transcription	Brain Substantia Nigra	brain
2	chr3:177392400-177418800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:177395000-177406000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:177395000-177411600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:177398800-177421600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:177400400-177406200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:177404400-177405400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:177404400-177406000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr3:177404600-177405600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:177404800-177405400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr3:177405200-177405400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:177405200-177405600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:177405200-177407000	Enhancers	Brain Hippocampus Middle	brain
14	chr3:177405400-177405800	Enhancers	Fetal Brain Male	brain
15	chr3:177405400-177406000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr3:177405400-177406800	Enhancers	Brain Anterior Caudate	brain
17	chr3:177405400-177406800	Enhancers	Brain Cingulate Gyrus	brain
18	chr3:177405400-177406800	Enhancers	Brain Substantia Nigra	brain
19	chr3:177405600-177406200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:177405600-177411400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:177405800-177406400	Enhancers	Brain Germinal Matrix	brain
22	chr3:177405800-177406600	Enhancers	Colon Smooth Muscle	Colon
23	chr3:177405800-177411600	Weak transcription	Fetal Brain Male	brain
24	chr3:177406000-177406200	Enhancers	Brain Angular Gyrus	brain
25	chr3:177406000-177406400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr3:177406000-177406600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:177406000-177406600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr3:177406000-177407000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:177406200-177406600	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr3:177406200-177406600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr3:177406200-177406800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:177406400-177406800	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr3:177406600-177406800	Active TSS	Brain Angular Gyrus	brain
34	chr3:177406600-177412000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:177406800-177407800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:177406800-177411200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr3:177406800-177411600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:177406800-177411600	Weak transcription	Brain Substantia Nigra	brain
39	chr3:177406800-177411800	Weak transcription	Brain Anterior Caudate	brain
40	chr3:177407000-177411600	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:177407800-177408000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:177408000-177408200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:177410200-177410600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:177410600-177412000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:177411000-177413000	Enhancers	HUVEC	blood vessel
46	chr3:177411200-177411400	Enhancers	Fetal Stomach	stomach
47	chr3:177411200-177412200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:177411200-177412800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:177411200-177413000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr3:177411200-177413000	Enhancers	Fetal Lung	lung

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