Variant report

Variant	nsv432770
Chromosome Location	chr5:97030575-97138147
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	BRCA1	chr5:97092073-97092104	GM12878	blood:	n/a	n/a
2	CCNT2	chr5:97137638-97137838	K562	blood:	n/a	n/a
3	CEBPB	chr5:97100346-97100779	IMR90	lung:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
4	CEBPB	chr5:97070883-97071301	IMR90	lung:	n/a	n/a
5	CEBPB	chr5:97032370-97032668	HepG2	liver:	n/a	chr5:97032528-97032539
6	CEBPB	chr5:97100388-97100797	Hela-S3	cervix:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
7	CEBPB	chr5:97100304-97100855	MCF-7	breast:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
8	CEBPB	chr5:97135889-97136000	A549	lung:	n/a	n/a
9	CEBPB	chr5:97085589-97085836	HepG2	liver:	n/a	chr5:97085700-97085711
10	CEBPB	chr5:97100307-97100770	MCF-7	breast:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
11	CEBPB	chr5:97100392-97100766	HepG2	liver:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
12	CEBPB	chr5:97100446-97100707	K562	blood:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
13	CEBPB	chr5:97100431-97100718	A549	lung:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
14	CEBPB	chr5:97121118-97121214	HepG2	liver:	n/a	n/a
15	CTCF	chr5:97061920-97062070	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr5:97061940-97062090	AG10803	skin:	n/a	n/a
17	CTCF	chr5:97061940-97062090	HMF	breast:	n/a	n/a
18	CTCF	chr5:97061980-97062130	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr5:97061860-97062010	GM06990	blood:	n/a	n/a
20	CTCF	chr5:97047335-97047347	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr5:97066510-97066536	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr5:97061820-97061970	HCM	heart:	n/a	n/a
23	CTCF	chr5:97058980-97059130	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr5:97061860-97062010	GM12873	blood:	n/a	n/a
25	CTCF	chr5:97061973-97062042	LNCaP	prostate:	n/a	n/a
26	CTCF	chr5:97061940-97062090	GM12873	blood:	n/a	n/a
27	CTCF	chr5:97061860-97062010	HRE	kidney:	n/a	n/a
28	CTCF	chr5:97133880-97134030	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr5:97061940-97062090	AG09309	skin:	n/a	n/a
30	CTCF	chr5:97061940-97062090	HEK293	kidney:	n/a	n/a
31	CTCF	chr5:97061820-97061970	HVMF	connective:	n/a	n/a
32	CTCF	chr5:97061960-97062110	SAEC	small airway:	n/a	n/a
33	CTCF	chr5:97061940-97062090	GM12864	blood:	n/a	n/a
34	CTCF	chr5:97061860-97062010	AG10803	skin:	n/a	n/a
35	CTCF	chr5:97061900-97062050	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr5:97061660-97061810	HMF	breast:	n/a	n/a
37	CTCF	chr5:97047308-97047334	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr5:97061900-97062050	HCFaa	heart:	n/a	n/a
39	CTCF	chr5:97061960-97062110	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr5:97061880-97062030	GM12865	blood:	n/a	n/a
41	CTCF	chr5:97061980-97062130	HFF	foreskin:	n/a	n/a
42	CTCF	chr5:97061760-97061910	HCM	heart:	n/a	n/a
43	CTCF	chr5:97061900-97062050	HPF	lung:	n/a	n/a
44	CTCF	chr5:97066380-97066530	HMEC	breast:	n/a	n/a
45	CTCF	chr5:97061960-97062110	RPTEC	kidney:	n/a	n/a
46	CTCF	chr5:97062000-97062150	BJ	skin:	n/a	n/a
47	CTCF	chr5:97061860-97062010	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr5:97061880-97062030	HPF	lung:	n/a	n/a
49	CTCF	chr5:97062000-97062150	NHLF	lung:	n/a	n/a
50	CTCF	chr5:97061960-97062110	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:97063042..97065906-chr5:97067363..97069421,2	MCF-7	breast:
2	chr5:97113626..97116438-chr5:97121561..97123647,2	K562	blood:
3	chr5:97113626..97116438-chr5:97121561..97123647,2	K562	blood:
4	chr5:97063042..97065906-chr5:97067363..97069421,2	MCF-7	breast:
5	chr5:97027188..97030158-chr5:97031253..97033564,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2215E18.1.1-6	chr5:97073598-97074617	NONHSAT102935

Variant related genes	Relation type
ENSG00000251193	TF binding region

Extended variants
information (count: 1451 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1451 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10476724	chr5:97030575-97030576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530980041	chr5:97030676-97030677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186912572	chr5:97030681-97030682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73141434	chr5:97030684-97030685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373056995	chr5:97030712-97030713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538555666	chr5:97030845-97030846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34299922	chr5:97030895-97030896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111302938	chr5:97030925-97030926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375244856	chr5:97030949-97030950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546980420	chr5:97030985-97030986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565870080	chr5:97030986-97030987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533233796	chr5:97031022-97031023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551359715	chr5:97031067-97031068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569846646	chr5:97031115-97031116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537201903	chr5:97031138-97031139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115269396	chr5:97031177-97031178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75226912	chr5:97031179-97031180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535055925	chr5:97031204-97031205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145677770	chr5:97031230-97031231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75202292	chr5:97031236-97031237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77055706	chr5:97031268-97031269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147734744	chr5:97031273-97031274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139884381	chr5:97031286-97031287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190149936	chr5:97031313-97031314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112848726	chr5:97031349-97031350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528940225	chr5:97031351-97031352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79438245	chr5:97031402-97031403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182210345	chr5:97031406-97031407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7703559	chr5:97031453-97031454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576116344	chr5:97031469-97031470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551663557	chr5:97031516-97031517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144968780	chr5:97031539-97031540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530771800	chr5:97031576-97031577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7703706	chr5:97031577-97031578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567792497	chr5:97031580-97031581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535097692	chr5:97031584-97031585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374386676	chr5:97031596-97031597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149054552	chr5:97031627-97031628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555221333	chr5:97031662-97031663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187242051	chr5:97031713-97031714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76831459	chr5:97031727-97031728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557684980	chr5:97031774-97031775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369168476	chr5:97031820-97031821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575525112	chr5:97031835-97031836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542847897	chr5:97031846-97031847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373128711	chr5:97031852-97031853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146671272	chr5:97031885-97031886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140214436	chr5:97031898-97031899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10515258	chr5:97031902-97031903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs145566776	chr5:97031912-97031913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19214233	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97027400-97035800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:97035600-97036000	Active TSS	Colon Smooth Muscle	Colon
3	chr5:97049800-97050600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:97050000-97050600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:97050000-97050800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:97050400-97050800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:97050800-97051800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:97052400-97052600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:97052800-97053400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:97059200-97059400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr5:97059400-97059600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:97059400-97059600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:97059400-97059600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:97059600-97064800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:97061600-97062000	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:97062000-97063800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:97063800-97064400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:97064200-97064600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:97064800-97065000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:97065000-97065200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:97066600-97067800	Enhancers	Fetal Heart	heart
22	chr5:97067000-97067600	Enhancers	Psoas Muscle	Psoas
23	chr5:97067000-97067600	Enhancers	HSMMtube	muscle
24	chr5:97069000-97075000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:97070400-97071800	Enhancers	HMEC	breast
26	chr5:97070600-97071800	Enhancers	NHEK	skin
27	chr5:97070800-97071200	Enhancers	HUVEC	blood vessel
28	chr5:97070800-97071200	Enhancers	NHLF	lung
29	chr5:97070800-97071400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:97070800-97071600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:97070800-97071600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:97070800-97071600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:97070800-97071600	Enhancers	NHDF-Ad	bronchial
34	chr5:97070800-97071600	Enhancers	Osteobl	bone
35	chr5:97070800-97071800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:97070800-97071800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:97071200-97072000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:97071400-97072000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:97072600-97075200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:97085800-97086600	Enhancers	Dnd41	blood
41	chr5:97086000-97087200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:97086400-97087400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:97086400-97087600	Enhancers	Adipose Nuclei	Adipose
44	chr5:97091800-97092200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:97097000-97097800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:97097800-97100000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:97100000-97101200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:97100200-97100600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:97100200-97100800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:97100200-97100800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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