Variant report

Variant	nsv968833
Chromosome Location	chr5:59976941-59986267
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:59984165..59985932-chr5:59998391..60001093,2	K562	blood:
2	chr5:59981919..59984018-chr5:59995398..59997534,3	K562	blood:
3	chr5:59974424..59976131-chr5:59981029..59983580,2	MCF-7	breast:
4	chr5:59978724..59981449-chr5:59990551..59993454,2	K562	blood:
5	chr5:59982146..59984136-chr5:59984712..59987342,2	K562	blood:
6	chr5:59981395..59986593-chr5:59993706..59998197,7	K562	blood:
7	chr5:59979528..59981743-chr5:60138984..60140817,2	K562	blood:
8	chr5:59974003..59976839-chr5:59984985..59987067,2	K562	blood:
9	chr5:59976157..59978303-chr5:59980094..59983522,3	K562	blood:
10	chr5:59975344..59978303-chr5:59980316..59982465,2	K562	blood:
11	chr5:59943723..59945497-chr5:59975521..59977784,2	MCF-7	breast:
12	chr5:59976157..59978303-chr5:59980094..59983522,3	K562	blood:
13	chr5:59968567..59969123-chr5:59981115..59981698,2	MCF-7	breast:
14	chr5:59975344..59978303-chr5:59980316..59982465,2	K562	blood:
15	chr5:59982671..59990838-chr5:59991133..59997951,12	MCF-7	breast:
16	chr5:59982146..59984136-chr5:59984712..59987342,2	K562	blood:
17	chr5:59982948..59985839-chr5:59989149..59990796,3	K562	blood:
18	chr5:59972368..59974119-chr5:59975608..59977854,2	MCF-7	breast:
19	chr5:59982257..59983843-chr5:60138380..60140175,2	MCF-7	breast:
20	chr5:59974810..59977712-chr5:59994412..59996094,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000035499	chromatin interactions
ENSG00000164181	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547727608	chr5:59976958-59976959	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs539165789	chr5:59976988-59976989	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558424428	chr5:59976995-59976996	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs566085294	chr5:59977016-59977017	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34493104	chr5:59977056-59977057	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs11741754	chr5:59977058-59977059	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs555314548	chr5:59977135-59977136	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575155971	chr5:59977140-59977141	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370846350	chr5:59977220-59977221	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78069454	chr5:59977262-59977263	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557564512	chr5:59977283-59977284	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201353235	chr5:59977290-59977291	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368768873	chr5:59977301-59977302	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73759381	chr5:59977308-59977309	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75700200	chr5:59977309-59977310	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371513516	chr5:59977315-59977316	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375826870	chr5:59977316-59977317	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560527388	chr5:59977357-59977358	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551598509	chr5:59977394-59977395	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192317368	chr5:59977396-59977397	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs137921217	chr5:59977403-59977404	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35324630	chr5:59977411-59977412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs386688447	chr5:59977417-59977418	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs368994717	chr5:59977418-59977419	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs142473408	chr5:59977431-59977432	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566142334	chr5:59977465-59977466	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535036082	chr5:59977506-59977507	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548628182	chr5:59977557-59977558	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs568448003	chr5:59977562-59977563	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537788430	chr5:59977573-59977574	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557366573	chr5:59977575-59977576	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs559574211	chr5:59977613-59977614	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201118059	chr5:59977624-59977625	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577370886	chr5:59977635-59977636	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs28778431	chr5:59977674-59977675	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs368176378	chr5:59977754-59977755	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371642705	chr5:59977880-59977881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571838425	chr5:59978029-59978030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570847651	chr5:59978033-59978034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374869934	chr5:59978134-59978135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369586123	chr5:59978174-59978175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560591600	chr5:59978178-59978179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574350001	chr5:59978199-59978200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543707285	chr5:59978200-59978201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183453685	chr5:59978248-59978249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532348622	chr5:59978277-59978278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552054947	chr5:59978308-59978309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34915115	chr5:59978326-59978327	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538818211	chr5:59978330-59978331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549741014	chr5:59978333-59978334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:235 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59933600-59981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:59943400-59977000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:59954000-59980200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:59956800-59981800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr5:59957000-59977000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:59962600-59977000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:59962600-59980000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:59962600-59980800	Weak transcription	Fetal Thymus	thymus
9	chr5:59962600-59981000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:59962600-59981600	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:59962600-59985600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:59962600-59986800	Weak transcription	Fetal Stomach	stomach
13	chr5:59962600-59990000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:59962800-59978600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:59962800-59978800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:59966000-59988800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr5:59967400-59981800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:59968000-59978800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:59968000-59981800	Weak transcription	Thymus	Thymus
20	chr5:59969400-59977000	Weak transcription	Pancreas	Pancrea
21	chr5:59969400-59981400	Weak transcription	GM12878-XiMat	blood
22	chr5:59969600-59977200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr5:59969600-59977200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:59969600-59984000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:59969600-59994800	Weak transcription	Fetal Lung	lung
26	chr5:59970400-59980600	Weak transcription	K562	blood
27	chr5:59970600-59980800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:59970600-59981600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:59971000-59993800	Weak transcription	NHLF	lung
30	chr5:59971000-59994000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr5:59971000-59994200	Weak transcription	NH-A	brain
32	chr5:59971200-59977000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:59971200-59980800	Weak transcription	Placenta	Placenta
34	chr5:59971200-59981800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:59972400-59983200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:59973000-59984200	Weak transcription	Small Intestine	intestine
37	chr5:59973200-59985400	Weak transcription	HMEC	breast
38	chr5:59973600-59986000	Weak transcription	Primary B cells from cord blood	blood
39	chr5:59973800-59980800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:59973800-59986600	Weak transcription	Osteobl	bone
41	chr5:59974000-59980400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:59974000-59980400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:59974000-59981600	Weak transcription	NHEK	skin
44	chr5:59974200-59977000	Weak transcription	Fetal Intestine Small	intestine
45	chr5:59974200-59981000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:59974200-59984200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:59974200-59994200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr5:59974400-59993600	Weak transcription	Hela-S3	cervix
49	chr5:59974600-59977000	Weak transcription	Fetal Intestine Large	intestine
50	chr5:59975000-59980200	Weak transcription	HepG2	liver

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