Variant report

Variant	esv3692867
Chromosome Location	chr5:97477227-97537837
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	CEBPB	chr5:97523691-97523908	A549	lung:	n/a	n/a
2	CEBPB	chr5:97523617-97523994	IMR90	lung:	n/a	n/a
3	CTCF	chr5:97493200-97493350	NB4	blood:	n/a	n/a
4	CTCF	chr5:97493179-97493400	MCF-7	breast:	n/a	n/a
5	CTCF	chr5:97493160-97493310	GM12875	blood:	n/a	n/a
6	CTCF	chr5:97517934-97517950	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr5:97493190-97493387	MCF-7	breast:	n/a	n/a
8	CTCF	chr5:97493180-97493330	GM12875	blood:	n/a	n/a
9	CTCF	chr5:97493260-97493410	HCM	heart:	n/a	n/a
10	CTCF	chr5:97493182-97493383	MCF-7	breast:	n/a	n/a
11	CTCF	chr5:97493200-97493350	HCT-116	colon:	n/a	n/a
12	CTCF	chr5:97493200-97493326	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr5:97493160-97493310	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr5:97493220-97493370	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr5:97493176-97493401	MCF-7	breast:	n/a	n/a
16	CTCF	chr5:97516538-97516662	GM12892	blood:	n/a	n/a
17	CTCF	chr5:97493200-97493350	MCF-7	breast:	n/a	n/a
18	CTCF	chr5:97493198-97493342	GM19240	blood:	n/a	n/a
19	CTCF	chr5:97493260-97493279	GM13977	blood:	n/a	n/a
20	CTCF	chr5:97493140-97493290	HCM	heart:	n/a	n/a
21	CTCF	chr5:97493199-97493354	GM19239	blood:	n/a	n/a
22	CTCF	chr5:97493175-97493396	MCF-7	breast:	n/a	n/a
23	CTCF	chr5:97516560-97516710	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr5:97493160-97493310	MCF-7	breast:	n/a	n/a
25	E2F4	chr5:97495064-97495202	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr5:97499716-97499876	GM12878	blood:	n/a	chr5:97499814-97499825
27	ELK1	chr5:97508962-97509049	GM12878	blood:	n/a	n/a
28	EP300	chr5:97499425-97499740	SK-N-SH_RA	brain:	n/a	n/a
29	EP300	chr5:97499385-97499834	SK-N-SH_RA	brain:	n/a	n/a
30	FAM48A	chr5:97486444-97486517	GM12878	blood:	n/a	n/a
31	FOS	chr5:97508991-97509406	MCF10A-Er-Src	breast:	n/a	chr5:97509213-97509224
32	FOS	chr5:97523612-97523990	MCF10A-Er-Src	breast:	n/a	chr5:97523788-97523800
33	FOS	chr5:97480406-97480768	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr5:97509051-97509408	MCF10A-Er-Src	breast:	n/a	chr5:97509213-97509224
35	FOS	chr5:97480401-97480782	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr5:97509092-97509365	MCF10A-Er-Src	breast:	n/a	chr5:97509213-97509224
37	FOS	chr5:97504631-97504881	MCF10A-Er-Src	breast:	n/a	chr5:97504743-97504751 chr5:97504744-97504751
38	FOS	chr5:97480389-97480777	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr5:97480401-97480848	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr5:97529695-97529977	MCF10A-Er-Src	breast:	n/a	chr5:97529800-97529808 chr5:97529800-97529807 chr5:97529800-97529808
41	FOS	chr5:97504660-97504906	MCF10A-Er-Src	breast:	n/a	chr5:97504743-97504751 chr5:97504744-97504751
42	FOS	chr5:97529629-97530377	MCF10A-Er-Src	breast:	n/a	chr5:97529800-97529808 chr5:97529800-97529807 chr5:97529800-97529808
43	FOS	chr5:97523640-97523960	MCF10A-Er-Src	breast:	n/a	chr5:97523788-97523800
44	FOS	chr5:97523720-97523920	MCF10A-Er-Src	breast:	n/a	chr5:97523788-97523800
45	FOS	chr5:97504632-97504907	MCF10A-Er-Src	breast:	n/a	chr5:97504743-97504751 chr5:97504744-97504751
46	FOS	chr5:97509011-97509364	HUVEC	blood vessel:	n/a	chr5:97509213-97509224
47	FOS	chr5:97504631-97504900	MCF10A-Er-Src	breast:	n/a	chr5:97504743-97504751 chr5:97504744-97504751
48	FOS	chr5:97529645-97529973	MCF10A-Er-Src	breast:	n/a	chr5:97529800-97529808 chr5:97529800-97529807 chr5:97529800-97529808
49	FOS	chr5:97523618-97523975	MCF10A-Er-Src	breast:	n/a	chr5:97523788-97523800
50	FOS	chr5:97509066-97509401	MCF10A-Er-Src	breast:	n/a	chr5:97509213-97509224

No.	Distal block	Cell Line	Cell type
1	chr5:97521008..97523916-chr5:97529057..97531855,2	MCF-7	breast:
2	chr5:97535739..97538570-chr5:97541760..97544389,2	K562	blood:
3	chr5:97521008..97523916-chr5:97529057..97531855,2	MCF-7	breast:
4	chr5:97490515..97493248-chr5:97494183..97497100,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHD1-2	chr5:97496404-97496496	XLOC_004935
2	lnc-CHD1-2	chr5:97496651-97496897	XLOC_004935
3	lnc-CHD1-2	chr5:97496010-97496123	XLOC_004935

Variant related genes	Relation type
ENSG00000248901	TF binding region
ENSG00000249135	TF binding region
ENSG00000248901	chromatin interactions
ACTR2	miRNA target sites
IKBKE	miRNA target sites

Extended variants
information (count: 2432 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2432 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6889775	chr5:97477227-97477228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145289747	chr5:97477233-97477234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552742623	chr5:97477246-97477247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551563744	chr5:97477287-97477288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572901060	chr5:97477302-97477303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189210888	chr5:97477316-97477317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78303769	chr5:97477330-97477331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6890059	chr5:97477336-97477337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140064467	chr5:97477365-97477366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111489388	chr5:97477367-97477368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575146951	chr5:97477377-97477378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534724133	chr5:97477426-97477427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553402915	chr5:97477433-97477434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113636974	chr5:97477491-97477492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10053722	chr5:97477504-97477505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs564315164	chr5:97477509-97477510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79513010	chr5:97477517-97477518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543768806	chr5:97477531-97477532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543837941	chr5:97477542-97477543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62366775	chr5:97477586-97477587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564002944	chr5:97477587-97477588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72769617	chr5:97477608-97477609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143625332	chr5:97477617-97477618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181031977	chr5:97477619-97477620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559355198	chr5:97477621-97477622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13354855	chr5:97477662-97477663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113685379	chr5:97477681-97477682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75439010	chr5:97477706-97477707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200010262	chr5:97477726-97477727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78999180	chr5:97477730-97477731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146791134	chr5:97477745-97477746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537329825	chr5:97477834-97477835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549230563	chr5:97477835-97477836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4282343	chr5:97477853-97477854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534970258	chr5:97477883-97477884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553101045	chr5:97477926-97477927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578043052	chr5:97477931-97477932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564918477	chr5:97477932-97477933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532264038	chr5:97477936-97477937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547164169	chr5:97478054-97478055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539184423	chr5:97478077-97478078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557963278	chr5:97478093-97478094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576338707	chr5:97478095-97478096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12653234	chr5:97478098-97478099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs143818795	chr5:97478118-97478119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375698730	chr5:97478156-97478157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs151104829	chr5:97478157-97478158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548177287	chr5:97478198-97478199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116105545	chr5:97478231-97478232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532840518	chr5:97478266-97478267	Weak transcription	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	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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21611746	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97447600-97480000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:97478400-97480600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:97480000-97482000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:97480000-97482000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:97480000-97482200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:97480000-97482200	Enhancers	NHEK	skin
7	chr5:97480200-97480400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:97480400-97480800	Enhancers	HSMMtube	muscle
9	chr5:97480400-97481200	Enhancers	HMEC	breast
10	chr5:97480400-97481400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:97481200-97481600	Weak transcription	HMEC	breast
12	chr5:97481400-97481600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:97481400-97482200	Enhancers	Adipose Nuclei	Adipose
14	chr5:97481600-97482200	Enhancers	HMEC	breast
15	chr5:97481600-97483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:97482000-97482600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:97483400-97485600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:97485600-97487400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:97487400-97488600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:97487400-97499600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:97488600-97489400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:97489400-97491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:97491400-97492200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:97491600-97492200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:97492200-97498200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:97495800-97498200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:97496400-97498000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:97498200-97498600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:97498200-97499600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:97498600-97504600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:97499600-97500000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:97499600-97500000	Enhancers	Brain Cingulate Gyrus	brain
33	chr5:97499600-97500000	Enhancers	Brain Hippocampus Middle	brain
34	chr5:97499600-97500000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr5:97499600-97500000	Enhancers	Brain Substantia Nigra	brain
36	chr5:97500000-97502000	Weak transcription	Brain Substantia Nigra	brain
37	chr5:97504600-97505000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:97505000-97505800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:97505800-97506400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:97506400-97506600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:97506400-97507200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:97506600-97506800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:97506800-97513200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:97507200-97511000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:97508400-97509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:97508800-97509600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:97508800-97509600	Enhancers	HSMM	muscle
48	chr5:97508800-97509800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:97508800-97510000	Enhancers	NHDF-Ad	bronchial
50	chr5:97509000-97509600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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