Variant report

Variant	nsv964907
Chromosome Location	chr5:94161637-94166013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:94161819-94161898	GM10248	blood:	n/a	n/a
2	CTCF	chr5:94163950-94164017	ProgFib	skin:	n/a	n/a
3	FOS	chr5:94162266-94162534	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr5:94164508-94164649	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr5:94164878-94165008	MCF-7	breast:	n/a	n/a
6	POLR2A	chr5:94161909-94162518	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr5:94164929-94165018	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:94164406-94164439	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr5:94164861-94164869	MCF-7	breast:	n/a	n/a
10	POLR2A	chr5:94165415-94165559	MCF10A-Er-Src	breast:	n/a	n/a
11	SPI1	chr5:94162305-94162464	K562	blood:	n/a	chr5:94162415-94162424 chr5:94162412-94162425 chr5:94162416-94162423 chr5:94162413-94162426
12	ZNF384	chr5:94162322-94162598	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94165904..94166917-chr5:94244310..94245184,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0825-3	chr5:94161666-94162399	NONHSAT102834

Variant related genes	Relation type
RPL7P18	TF binding region

Extended variants
information (count: 155 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:155 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11741293	chr5:94161638-94161639	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546260824	chr5:94161691-94161692	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs11739069	chr5:94161695-94161696	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs569222097	chr5:94161721-94161722	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs142779001	chr5:94161726-94161727	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs562700083	chr5:94161751-94161752	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs571607052	chr5:94161821-94161822	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs534294028	chr5:94161824-94161825	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs553972939	chr5:94161855-94161856	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs573900951	chr5:94161889-94161890	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs542919282	chr5:94161898-94161899	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs531531720	chr5:94161944-94161945	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs575979888	chr5:94162064-94162065	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs554974353	chr5:94162070-94162071	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs147340825	chr5:94162106-94162107	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs189770494	chr5:94162112-94162113	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs34399473	chr5:94162145-94162146	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs527362208	chr5:94162167-94162168	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs72775339	chr5:94162187-94162188	Weak transcription Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs137917681	chr5:94162255-94162256	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs574789188	chr5:94162266-94162267	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs560293388	chr5:94162311-94162312	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs529481692	chr5:94162367-94162368	Weak transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs549258889	chr5:94162419-94162420	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs36128714	chr5:94162442-94162443	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs376863361	chr5:94162475-94162476	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs554313051	chr5:94162506-94162507	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs61324420	chr5:94162511-94162512	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs371829911	chr5:94162512-94162513	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs376171650	chr5:94162518-94162519	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs569499336	chr5:94162519-94162520	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs6889127	chr5:94162529-94162530	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs143696545	chr5:94162537-94162538	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs144168916	chr5:94162561-94162562	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs571628060	chr5:94162612-94162613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561922617	chr5:94162621-94162622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6889321	chr5:94162643-94162644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs36729	chr5:94162706-94162707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs547051485	chr5:94162807-94162808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567451124	chr5:94162814-94162815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570543488	chr5:94162854-94162855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181262467	chr5:94162924-94162925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556419115	chr5:94162935-94162936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576210178	chr5:94162955-94162956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184578978	chr5:94162962-94162963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs36730	chr5:94162986-94162987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571737407	chr5:94163000-94163001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540710922	chr5:94163063-94163064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560691628	chr5:94163068-94163069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529444104	chr5:94163079-94163080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94130400-94192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:94134600-94164000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr5:94137600-94170400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:94140200-94163800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:94148000-94164200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:94157000-94168200	Weak transcription	Thymus	Thymus
7	chr5:94160000-94168200	Weak transcription	GM12878-XiMat	blood
8	chr5:94161400-94163800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:94161600-94162200	Strong transcription	HUVEC	blood vessel
10	chr5:94161600-94163000	Enhancers	Fetal Thymus	thymus
11	chr5:94161800-94163600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:94162000-94164000	Weak transcription	Adipose Nuclei	Adipose
13	chr5:94162200-94162400	Genic enhancers	HUVEC	blood vessel
14	chr5:94162400-94163800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:94162400-94164000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:94162400-94164000	Weak transcription	Lung	lung
17	chr5:94162400-94164000	Weak transcription	Spleen	Spleen
18	chr5:94162400-94164600	Weak transcription	HUVEC	blood vessel
19	chr5:94162400-94184800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:94162600-94164200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:94162600-94169600	Weak transcription	Gastric	stomach
22	chr5:94163000-94163800	Weak transcription	Fetal Thymus	thymus
23	chr5:94163000-94165400	Weak transcription	Right Ventricle	heart
24	chr5:94163400-94182600	Weak transcription	Brain Anterior Caudate	brain
25	chr5:94163600-94165600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:94163800-94165000	ZNF genes & repeats	Fetal Thymus	thymus
27	chr5:94163800-94165800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:94163800-94166000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr5:94163800-94166000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:94163800-94209800	Weak transcription	Dnd41	blood
31	chr5:94164000-94164600	Strong transcription	Spleen	Spleen
32	chr5:94164000-94165200	Strong transcription	Lung	lung
33	chr5:94164000-94165400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:94164000-94165800	Strong transcription	Adipose Nuclei	Adipose
35	chr5:94164000-94169000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr5:94164000-94185800	Weak transcription	Primary T cells from cord blood	blood
37	chr5:94164200-94164600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr5:94164200-94165000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:94164200-94165800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:94164600-94165800	Strong transcription	HUVEC	blood vessel
41	chr5:94164600-94166200	Weak transcription	Spleen	Spleen
42	chr5:94164600-94168600	Weak transcription	Fetal Brain Female	brain
43	chr5:94165000-94165400	Genic enhancers	Fetal Thymus	thymus
44	chr5:94165000-94240800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:94165200-94183400	Weak transcription	Lung	lung
46	chr5:94165400-94169000	Enhancers	Fetal Thymus	thymus
47	chr5:94165400-94185600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:94165600-94182200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:94165800-94172800	Weak transcription	HUVEC	blood vessel
50	chr5:94165800-94182400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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