Variant report

Variant	nsv598938
Chromosome Location	chr5:91377829-91407716
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	chr5:91395579-91395597	GM10248	blood:	n/a	n/a
2	CTCF	chr5:91378200-91378350	BE2_C	brain:	n/a	n/a
3	CTCF	chr5:91397958-91398019	GM20000	blood:	n/a	n/a
4	CTCF	chr5:91399960-91400110	AG10803	skin:	n/a	n/a
5	CTCF	chr5:91396700-91396778	LNCaP	prostate:	n/a	n/a
6	CTCF	chr5:91396697-91396782	GM20000	blood:	n/a	n/a
7	EP300	chr5:91381949-91382245	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr5:91377741-91378383	SK-N-SH	brain:	n/a	chr5:91378084-91378098
9	EP300	chr5:91377802-91378290	SK-N-SH_RA	brain:	n/a	chr5:91378084-91378098
10	EP300	chr5:91381947-91382253	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr5:91377733-91378326	SK-N-SH_RA	brain:	n/a	chr5:91378084-91378098
12	FOXA1	chr5:91378085-91378409	T-47D	breast:	n/a	n/a
13	FOXA1	chr5:91377978-91378347	T-47D	breast:	n/a	n/a
14	JUN	chr5:91403094-91403135	HepG2	liver:	n/a	n/a
15	JUN	chr5:91395045-91395217	HepG2	liver:	n/a	chr5:91395095-91395108
16	JUND	chr5:91403007-91403278	HepG2	liver:	n/a	chr5:91403133-91403140 chr5:91403131-91403142 chr5:91403133-91403141 chr5:91403136-91403143
17	JUND	chr5:91395024-91395213	HepG2	liver:	n/a	n/a
18	MAFF	chr5:91396295-91396434	HepG2	liver:	n/a	n/a
19	MAFF	chr5:91402688-91402991	K562	blood:	n/a	chr5:91402819-91402837
20	MAFF	chr5:91402644-91402993	HepG2	liver:	n/a	chr5:91402819-91402837
21	MAFK	chr5:91396233-91396512	HepG2	liver:	n/a	chr5:91396372-91396389 chr5:91396376-91396392
22	MAFK	chr5:91402659-91403007	IMR90	lung:	n/a	chr5:91402820-91402835
23	MAFK	chr5:91402618-91403009	HepG2	liver:	n/a	chr5:91402820-91402835
24	MAFK	chr5:91393321-91393614	HepG2	liver:	n/a	n/a
25	MAFK	chr5:91402730-91402974	Hela-S3	cervix:	n/a	chr5:91402820-91402835
26	MAFK	chr5:91402641-91403008	HepG2	liver:	n/a	chr5:91402820-91402835
27	MAFK	chr5:91402770-91402970	H1-hESC	embryonic stem cell:	n/a	chr5:91402820-91402835
28	MAFK	chr5:91393357-91393565	HepG2	liver:	n/a	n/a
29	MAFK	chr5:91402663-91402945	K562	blood:	n/a	chr5:91402820-91402835
30	MAFK	chr5:91396265-91396498	IMR90	lung:	n/a	chr5:91396372-91396389 chr5:91396376-91396392
31	MAFK	chr5:91396286-91396486	HepG2	liver:	n/a	chr5:91396372-91396389 chr5:91396376-91396392
32	MAZ	chr5:91401778-91401879	HepG2	liver:	n/a	n/a
33	PBX3	chr5:91381898-91382324	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr5:91388005-91388484	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr5:91387932-91388508	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr5:91378761-91378779	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr5:91399145-91399322	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr5:91406632-91406695	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr5:91399885-91400333	H1-neurons	neurons:	n/a	n/a
40	POLR2A	chr5:91392986-91393127	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr5:91390886-91391078	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr5:91401645-91401780	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr5:91399867-91400450	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr5:91402818-91402973	MCF10A-Er-Src	breast:	n/a	n/a
45	RAD21	chr5:91377862-91378210	SK-N-SH_RA	brain:	n/a	n/a
46	REST	chr5:91388017-91388609	H1-neurons	neurons:	n/a	n/a
47	REST	chr5:91387787-91388675	H1-neurons	neurons:	n/a	n/a
48	STAT3	chr5:91402051-91402111	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr5:91390638-91390893	MCF10A-Er-Src	breast:	n/a	n/a
50	TCF12	chr5:91381903-91382350	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:91404571..91406524-chr5:91570041..91571594,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR98-5	chr5:91378414-91378637	XLOC_004470

Variant related genes	Relation type
ENSG00000250049	TF binding region

Extended variants
information (count: 110 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7721589	chr5:91377829-91377830	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs544769608	chr5:91377870-91377871	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs150793068	chr5:91377916-91377917	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs578015444	chr5:91377939-91377940	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113855276	chr5:91377944-91377945	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs560483083	chr5:91377949-91377950	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs571384809	chr5:91378009-91378010	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs187728583	chr5:91378022-91378023	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs548536270	chr5:91378041-91378042	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs7735396	chr5:91378081-91378082	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs140264177	chr5:91378120-91378121	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs376445444	chr5:91378133-91378134	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs530661112	chr5:91378137-91378138	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570951665	chr5:91378148-91378149	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs144211282	chr5:91378163-91378164	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs192531777	chr5:91378178-91378179	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs146048287	chr5:91378191-91378192	Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs183295370	chr5:91378216-91378217	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs546211659	chr5:91378243-91378244	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs566098738	chr5:91378272-91378273	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs535067771	chr5:91378277-91378278	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs140079661	chr5:91378333-91378334	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs569531327	chr5:91378349-91378350	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs78394796	chr5:91378360-91378361	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs188791291	chr5:91378394-91378395	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs578048696	chr5:91378417-91378418	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs540696057	chr5:91378420-91378421	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs376376936	chr5:91378427-91378428	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs376499534	chr5:91378438-91378439	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs200433667	chr5:91378473-91378474	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs200852908	chr5:91378474-91378475	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs398093570	chr5:91378484-91378485	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs145831642	chr5:91378581-91378582	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs574109334	chr5:91378634-91378635	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs543037545	chr5:91378693-91378694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11444588	chr5:91378694-91378695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398109162	chr5:91378699-91378700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561871984	chr5:91378760-91378761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192636770	chr5:91378788-91378789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77983634	chr5:91378885-91378886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78797773	chr5:91378899-91378900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34549102	chr5:91379090-91379091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148975016	chr5:91379167-91379168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568026085	chr5:91379184-91379185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4496736	chr5:91379206-91379207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566208464	chr5:91379276-91379277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs570121276	chr5:91379308-91379309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs66968264	chr5:91379336-91379337	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113803459	chr5:91379409-91379410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569452277	chr5:91379422-91379423	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	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
Ovarian cancer	21720365	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
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91377200-91378600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:91377600-91378400	Active TSS	A549	lung
3	chr5:91377800-91378200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:91377800-91378200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:91377800-91378200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:91377800-91378200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:91377800-91378200	Active TSS	Hela-S3	cervix
8	chr5:91377800-91378200	Active TSS	NHDF-Ad	bronchial
9	chr5:91377800-91378200	Active TSS	Osteobl	bone
10	chr5:91377800-91378400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:91378200-91378400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:91378200-91378400	Flanking Active TSS	Hela-S3	cervix
13	chr5:91378200-91378400	Flanking Active TSS	NHDF-Ad	bronchial
14	chr5:91378600-91379800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:91399800-91401000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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