Variant report

Variant	nsv600242
Chromosome Location	chr5:164391457-164466785
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	BACH1	chr5:164449487-164449525	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr5:164439172-164439394	HepG2	liver:	n/a	chr5:164439254-164439265 chr5:164439254-164439263
3	CEBPB	chr5:164416476-164416716	A549	lung:	n/a	chr5:164416621-164416632
4	CEBPB	chr5:164416456-164416771	HepG2	liver:	n/a	chr5:164416621-164416632
5	CEBPB	chr5:164399067-164399154	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr5:164456520-164456670	GM06990	blood:	n/a	chr5:164456646-164456664 chr5:164456648-164456669
7	CTCF	chr5:164456620-164456711	A549	lung:	n/a	chr5:164456646-164456664 chr5:164456648-164456669
8	CTCF	chr5:164395780-164395930	GM12871	blood:	n/a	n/a
9	CTCF	chr5:164399180-164399330	WERI-Rb-1	eye:	n/a	n/a
10	CTCF	chr5:164456560-164456710	WERI-Rb-1	eye:	n/a	chr5:164456646-164456664 chr5:164456648-164456669
11	CTCF	chr5:164456580-164456730	HRPEpiC	eye:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456648-164456669 chr5:164456710-164456720
12	CTCF	chr5:164456540-164456690	GM12866	blood:	n/a	chr5:164456646-164456664 chr5:164456648-164456669
13	CTCF	chr5:164456580-164456730	MCF-7	breast:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456648-164456669 chr5:164456710-164456720
14	CTCF	chr5:164456500-164456650	HRPEpiC	eye:	n/a	n/a
15	CTCF	chr5:164395817-164395962	GM19238	blood:	n/a	n/a
16	CTCF	chr5:164456437-164456882	GM12878	blood:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456762-164456769 chr5:164456648-164456669 chr5:164456710-164456720
17	CTCF	chr5:164395820-164395970	GM12878	blood:	n/a	n/a
18	CTCF	chr5:164456600-164456750	MCF-7	breast:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456648-164456669 chr5:164456710-164456720
19	CTCF	chr5:164395832-164395912	GM19240	blood:	n/a	n/a
20	CTCF	chr5:164395780-164395930	GM12873	blood:	n/a	n/a
21	CTCF	chr5:164399200-164399350	NHEK	skin:	n/a	n/a
22	CTCF	chr5:164456600-164456750	BE2_C	brain:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456648-164456669 chr5:164456710-164456720
23	CTCF	chr5:164395800-164395950	HMEC	breast:	n/a	n/a
24	CTCF	chr5:164395823-164395946	GM19239	blood:	n/a	n/a
25	CTCF	chr5:164456659-164456668	GM10248	blood:	n/a	n/a
26	CTCF	chr5:164395730-164396006	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr5:164395700-164395850	MCF-7	breast:	n/a	n/a
28	CTCF	chr5:164399140-164399290	HMEC	breast:	n/a	n/a
29	CTCF	chr5:164395840-164395990	NB4	blood:	n/a	n/a
30	CTCF	chr5:164456620-164456770	HA-sp	spinal cord:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456762-164456769 chr5:164456648-164456669 chr5:164456710-164456720
31	CTCF	chr5:164456611-164456702	GM13977	blood:	n/a	chr5:164456646-164456664 chr5:164456648-164456669
32	CTCF	chr5:164395820-164395970	HEK293	kidney:	n/a	n/a
33	CTCF	chr5:164395840-164395990	GM12865	blood:	n/a	n/a
34	CTCF	chr5:164456581-164456766	MCF-7	breast:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456648-164456669 chr5:164456710-164456720
35	CTCF	chr5:164456593-164456751	MCF-7	breast:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456648-164456669 chr5:164456710-164456720
36	CTCF	chr5:164395800-164395950	HRE	kidney:	n/a	n/a
37	CTCF	chr5:164456600-164456750	NB4	blood:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456648-164456669 chr5:164456710-164456720
38	CTCF	chr5:164456507-164456795	IMR90	lung:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456762-164456769 chr5:164456648-164456669 chr5:164456710-164456720
39	CTCF	chr5:164456598-164456690	GM13976	blood:	n/a	chr5:164456646-164456664 chr5:164456648-164456669
40	CTCF	chr5:164456600-164456750	GM12869	blood:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456648-164456669 chr5:164456710-164456720
41	CTCF	chr5:164395800-164395950	GM12878	blood:	n/a	n/a
42	CTCF	chr5:164395820-164395970	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr5:164456547-164456788	A549	lung:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456762-164456769 chr5:164456648-164456669 chr5:164456710-164456720
44	CTCF	chr5:164456508-164456810	T-47D	breast:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456762-164456769 chr5:164456648-164456669 chr5:164456710-164456720
45	CTCF	chr5:164456437-164456914	MCF-7	breast:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456762-164456769 chr5:164456648-164456669 chr5:164456710-164456720
46	CTCF	chr5:164456480-164456630	A549	lung:	n/a	n/a
47	CTCF	chr5:164395780-164395930	A549	lung:	n/a	n/a
48	CTCF	chr5:164456580-164456730	HAc	cerebellar:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456648-164456669 chr5:164456710-164456720
49	CTCF	chr5:164395800-164395950	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr5:164456600-164456750	GM12868	blood:	n/a	chr5:164456709-164456722 chr5:164456646-164456664 chr5:164456648-164456669 chr5:164456710-164456720

No.	Distal block	Cell Line	Cell type
1	chr5:164408921..164411658-chr5:164417086..164418979,2	K562	blood:
2	chr5:164456273..164457115-chr5:164635699..164636841,5	MCF-7	breast:
3	chr5:164456344..164456958-chr5:164924436..164925021,2	MCF-7	breast:
4	chr5:164408921..164411658-chr5:164417086..164418979,2	K562	blood:
5	chr5:164456280..164457191-chr5:164635732..164636716,3	MCF-7	breast:
6	chr5:164456268..164457507-chr5:164884675..164886184,4	MCF-7	breast:
7	chr5:163439449..163440316-chr5:164456391..164457131,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAT2B-3	chr5:164400248-164400569	NONHSAT104944
2	lnc-MAT2B-3	chr5:164434375-164434418	NONHSAT104944
3	lnc-MAT2B-3	chr5:164434375-164434418	ENSG00000241956.5
4	lnc-MAT2B-3	chr5:164434375-164434418	ENSG00000241956.5
5	lnc-MAT2B-3	chr5:164400494-164400566	ENSG00000241956.5
6	lnc-MAT2B-3	chr5:164434375-164434418	ENSG00000241956.5
7	lnc-MAT2B-3	chr5:164434375-164434418	ENSG00000241956.5

Variant related genes	Relation type
ENSG00000241956	TF binding region

Extended variants
information (count: 884 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:884 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577250806	chr5:164395250-164395251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183605425	chr5:164395345-164395346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78309373	chr5:164395380-164395381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530268121	chr5:164395394-164395395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566451246	chr5:164395403-164395404	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534229958	chr5:164395450-164395451	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs538386638	chr5:164395477-164395478	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188652231	chr5:164395482-164395483	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563945831	chr5:164395489-164395490	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530452919	chr5:164395512-164395513	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192528568	chr5:164395617-164395618	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12651943	chr5:164395643-164395644	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs570496006	chr5:164395677-164395678	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs183249754	chr5:164395692-164395693	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs558596424	chr5:164395765-164395766	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs73800101	chr5:164395783-164395784	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs552570325	chr5:164395786-164395787	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs535237809	chr5:164395805-164395806	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs114469702	chr5:164395826-164395827	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs575173693	chr5:164395840-164395841	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs538549203	chr5:164395854-164395855	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs201589480	chr5:164395883-164395884	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537083044	chr5:164395884-164395885	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs558900478	chr5:164395896-164395897	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs115883569	chr5:164395905-164395906	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs556750714	chr5:164395906-164395907	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs186875552	chr5:164396001-164396002	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs535192243	chr5:164396018-164396019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs146964823	chr5:164396021-164396022	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs575382096	chr5:164396022-164396023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs377538350	chr5:164396057-164396058	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs373157323	chr5:164397487-164397488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs575891147	chr5:164397506-164397507	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs368223462	chr5:164397518-164397519	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs546052220	chr5:164397543-164397544	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs573315141	chr5:164398501-164398502	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs543775438	chr5:164398521-164398522	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs58185066	chr5:164398523-164398524	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs577658746	chr5:164398544-164398545	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs6420121	chr5:164398549-164398550	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs73338205	chr5:164398636-164398637	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs527444239	chr5:164398654-164398655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs191375690	chr5:164398672-164398673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs183076573	chr5:164398686-164398687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs529334275	chr5:164398687-164398688	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs550683666	chr5:164398701-164398702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs186795854	chr5:164398715-164398716	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs539546932	chr5:164398753-164398754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs560661471	chr5:164398754-164398755	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs190524178	chr5:164398779-164398780	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	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
Acute lymphoblastic leukemia	22237106	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
Embryonal rhabdomyosarcoma	16790082	CNVD
Breast cancer	17603634	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	19115005	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164395200-164395400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:164395200-164395800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:164395400-164395800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:164395800-164396000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:164403000-164403400	Enhancers	HMEC	breast
6	chr5:164425200-164425600	Enhancers	Duodenum Mucosa	Duodenum
7	chr5:164425200-164426000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:164425400-164426000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:164425400-164426000	Enhancers	Fetal Intestine Large	intestine
10	chr5:164425600-164426000	Active TSS	Duodenum Mucosa	Duodenum
11	chr5:164426000-164426200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:164426000-164430000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:164426200-164428200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:164428000-164428400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:164430000-164430600	Enhancers	Duodenum Mucosa	Duodenum
16	chr5:164430200-164430800	Enhancers	Fetal Intestine Small	intestine
17	chr5:164431600-164431800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:164440400-164441000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:164440400-164441000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:164440800-164443400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:164441000-164441200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr5:164441000-164442400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr5:164441200-164441400	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr5:164441400-164441600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr5:164441600-164442000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:164442000-164443400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:164442400-164443400	Enhancers	Colon Smooth Muscle	Colon
28	chr5:164442400-164443800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr5:164443400-164443600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr5:164452000-164452400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr5:164452400-164457000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:164456800-164457000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:164456800-164457600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:164456800-164457800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:164457000-164457800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr5:164457000-164458800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:164457200-164457600	Enhancers	Primary hematopoietic stem cells	blood
38	chr5:164458600-164458800	Bivalent Enhancer	Pancreas	Pancrea
39	chr5:164458800-164459200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:164465600-164466000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:164465600-164466000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr5:164466600-164466800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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