Variant report

Variant	nsv514328
Chromosome Location	chr5:147329263-147337727
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:147328475..147330647-chr5:147503680..147505781,2	K562	blood:
2	chr5:147329026..147330064-chr5:147486820..147487860,8	MCF-7	breast:
3	chr5:147328119..147330399-chr5:147762269..147764707,2	K562	blood:
4	chr5:147329190..147329931-chr5:147500361..147500913,2	MCF-7	breast:
5	chr5:147329083..147330043-chr5:147486700..147488028,4	MCF-7	breast:
6	chr5:147328971..147329733-chr5:148336729..148337377,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPINK5-1	chr5:147329199-147329413	NONHSAT104436

No data

Variant related genes	Relation type
ENSG00000145868	chromatin interactions
ENSG00000247199	chromatin interactions

Extended variants
information (count: 344 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569439835	chr5:147329313-147329314	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs530470251	chr5:147329319-147329320	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs548601917	chr5:147329370-147329371	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs566879967	chr5:147329404-147329405	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs534329361	chr5:147329430-147329431	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546263595	chr5:147329435-147329436	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571041755	chr5:147329454-147329455	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs114379016	chr5:147329466-147329467	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557162360	chr5:147329483-147329484	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146328568	chr5:147329492-147329493	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536501758	chr5:147329497-147329498	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs144186170	chr5:147329557-147329558	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553185998	chr5:147329598-147329599	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs150801483	chr5:147329608-147329609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540657617	chr5:147329620-147329621	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs369878928	chr5:147329629-147329630	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs33911069	chr5:147329630-147329631	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs56858531	chr5:147329631-147329632	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs398109526	chr5:147329632-147329633	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs35607337	chr5:147329658-147329659	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs539537534	chr5:147329718-147329719	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs565633124	chr5:147329742-147329743	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371695143	chr5:147329758-147329759	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs577452641	chr5:147329854-147329855	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183806975	chr5:147329919-147329920	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs139177303	chr5:147329927-147329928	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs187636942	chr5:147329963-147329964	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548826219	chr5:147330009-147330010	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560432961	chr5:147330079-147330080	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192560971	chr5:147330156-147330157	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546226794	chr5:147330173-147330174	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs184196122	chr5:147330231-147330232	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs187369433	chr5:147330235-147330236	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550408280	chr5:147330253-147330254	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs568994800	chr5:147330262-147330263	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536073640	chr5:147330294-147330295	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs149931302	chr5:147330300-147330301	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573208226	chr5:147330303-147330304	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs192692939	chr5:147330360-147330361	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs145032453	chr5:147330362-147330363	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs10065132	chr5:147330366-147330367	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567926786	chr5:147330368-147330369	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs370554341	chr5:147330369-147330370	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs544650558	chr5:147330399-147330400	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142155711	chr5:147330437-147330438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144338316	chr5:147330452-147330453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542083578	chr5:147330471-147330472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185037119	chr5:147330499-147330500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560400431	chr5:147330503-147330504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139998830	chr5:147330556-147330557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147326600-147345200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:147327000-147343200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:147327200-147343400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:147327400-147335400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:147327400-147335400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:147327600-147329800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:147327600-147335200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:147328400-147334800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:147328400-147337600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:147328400-147343400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:147329000-147329400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:147329000-147330200	Enhancers	Hela-S3	cervix
13	chr5:147329200-147330000	Enhancers	Stomach Mucosa	stomach
14	chr5:147329800-147330200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:147329800-147331800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:147330200-147335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:147330200-147335600	Weak transcription	Hela-S3	cervix
18	chr5:147331800-147343000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr5:147334800-147335800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:147335200-147335800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:147335200-147336000	Enhancers	NHEK	skin
22	chr5:147335200-147336200	Enhancers	HMEC	breast
23	chr5:147335200-147338000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr5:147335400-147335600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:147335400-147336200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:147335400-147336200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:147335400-147336600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:147335400-147336600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:147335400-147337600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:147335600-147336200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:147335600-147336400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:147335600-147336400	Enhancers	Hela-S3	cervix
33	chr5:147335800-147336400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:147335800-147336600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:147335800-147343200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:147336000-147336400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr5:147336000-147336800	Flanking Active TSS	NHEK	skin
38	chr5:147336200-147336400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr5:147336200-147336400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:147336200-147336600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:147336200-147336600	Flanking Active TSS	HMEC	breast
42	chr5:147336200-147336800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:147336400-147340600	Weak transcription	Hela-S3	cervix
44	chr5:147336400-147343400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr5:147336400-147343400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:147336400-147352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr5:147336600-147337600	Enhancers	HMEC	breast
48	chr5:147336600-147337800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:147336600-147343600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:147336600-147352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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