Variant report

Variant	nsv998537
Chromosome Location	chr3:177403421-177425648
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:14)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:177412767..177415044-chr3:177421223..177423851,2	MCF-7	breast:
2	chr3:177407076..177409234-chr3:177410395..177412106,2	MCF-7	breast:
3	chr3:177394100..177396470-chr3:177401441..177403790,2	K562	blood:
4	chr3:177406547..177408988-chr3:177413155..177415080,2	K562	blood:
5	chr3:177407076..177409234-chr3:177410395..177412106,2	MCF-7	breast:
6	chr3:177423921..177426469-chr3:177427048..177429863,3	K562	blood:
7	chr3:177398506..177400476-chr3:177405856..177408346,2	MCF-7	breast:
8	chr3:177412767..177415044-chr3:177421223..177423851,2	MCF-7	breast:
9	chr3:177403269..177405370-chr3:177412619..177415162,2	MCF-7	breast:
10	chr3:177420301..177421877-chr3:177520246..177522505,2	MCF-7	breast:
11	chr3:177403269..177405370-chr3:177412619..177415162,2	MCF-7	breast:
12	chr3:177406547..177408988-chr3:177413155..177415080,2	K562	blood:
13	chr3:177424201..177426469-chr3:177427457..177429863,3	K562	blood:
14	chr3:177396417..177398253-chr3:177403984..177405833,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000228221	chromatin interactions

Extended variants
information (count: 812 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:812 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13082519	chr3:177403421-177403422	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs73882258	chr3:177403461-177403462	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs13060502	chr3:177403471-177403472	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13060224	chr3:177403480-177403481	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540838910	chr3:177403495-177403496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560721269	chr3:177403554-177403555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192827500	chr3:177403559-177403560	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545767304	chr3:177403569-177403570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562371328	chr3:177403598-177403599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs62283344	chr3:177403607-177403608	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73882262	chr3:177403637-177403638	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs62283345	chr3:177403651-177403652	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs62283346	chr3:177403677-177403678	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534530610	chr3:177403718-177403719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs60123102	chr3:177403721-177403722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201679872	chr3:177403759-177403760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72593222	chr3:177403762-177403763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11412431	chr3:177403763-177403764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs67852759	chr3:177403764-177403765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs184930784	chr3:177403765-177403766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570694118	chr3:177403766-177403767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs59398813	chr3:177403767-177403768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs539388360	chr3:177403797-177403798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558892297	chr3:177403815-177403816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569202955	chr3:177403847-177403848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs137879561	chr3:177403856-177403857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7641099	chr3:177403876-177403877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs377233009	chr3:177403886-177403887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574991224	chr3:177403940-177403941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189435986	chr3:177403957-177403958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554440630	chr3:177403958-177403959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143423976	chr3:177403973-177403974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34627263	chr3:177403974-177403975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546223949	chr3:177404020-177404021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562493348	chr3:177404021-177404022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531166921	chr3:177404054-177404055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559798346	chr3:177404065-177404066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532113378	chr3:177404077-177404078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552145490	chr3:177404107-177404108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377077822	chr3:177404148-177404149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192464937	chr3:177404156-177404157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184542412	chr3:177404177-177404178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527403424	chr3:177404183-177404184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147526475	chr3:177404191-177404192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570583317	chr3:177404233-177404234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533255847	chr3:177404235-177404236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377169808	chr3:177404277-177404278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147802506	chr3:177404361-177404362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569944281	chr3:177404385-177404386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538195528	chr3:177404428-177404429	Weak transcription Enhancers	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:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:177392000-177405400	Weak transcription	Brain Substantia Nigra	brain
2	chr3:177392200-177404400	Weak transcription	Ovary	ovary
3	chr3:177392400-177418800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:177394800-177404800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr3:177395000-177406000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr3:177395000-177411600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:177398800-177405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:177398800-177421600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:177400400-177406200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:177401800-177404400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:177404000-177404400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr3:177404000-177405000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:177404400-177404800	Enhancers	Ovary	ovary
14	chr3:177404400-177405200	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:177404400-177405400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:177404400-177406000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr3:177404600-177405600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:177404800-177405400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr3:177405200-177405400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:177405200-177405600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:177405200-177407000	Enhancers	Brain Hippocampus Middle	brain
22	chr3:177405400-177405800	Enhancers	Fetal Brain Male	brain
23	chr3:177405400-177406000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr3:177405400-177406800	Enhancers	Brain Anterior Caudate	brain
25	chr3:177405400-177406800	Enhancers	Brain Cingulate Gyrus	brain
26	chr3:177405400-177406800	Enhancers	Brain Substantia Nigra	brain
27	chr3:177405600-177406200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:177405600-177411400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:177405800-177406400	Enhancers	Brain Germinal Matrix	brain
30	chr3:177405800-177406600	Enhancers	Colon Smooth Muscle	Colon
31	chr3:177405800-177411600	Weak transcription	Fetal Brain Male	brain
32	chr3:177406000-177406200	Enhancers	Brain Angular Gyrus	brain
33	chr3:177406000-177406400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr3:177406000-177406600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:177406000-177406600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:177406000-177407000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:177406200-177406600	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr3:177406200-177406600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:177406200-177406800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:177406400-177406800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr3:177406600-177406800	Active TSS	Brain Angular Gyrus	brain
42	chr3:177406600-177412000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:177406800-177407800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:177406800-177411200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr3:177406800-177411600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr3:177406800-177411600	Weak transcription	Brain Substantia Nigra	brain
47	chr3:177406800-177411800	Weak transcription	Brain Anterior Caudate	brain
48	chr3:177407000-177411600	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:177407800-177408000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:177408000-177408200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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