Variant report

Variant	nsv598965
Chromosome Location	chr5:96934739-97101816
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	CEBPB	chr5:97100307-97100770	MCF-7	breast:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
3	CEBPB	chr5:97085589-97085836	HepG2	liver:	n/a	chr5:97085700-97085711
4	CEBPB	chr5:97100304-97100855	MCF-7	breast:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
5	CEBPB	chr5:96958462-96958749	HepG2	liver:	n/a	chr5:96958584-96958595 chr5:96958604-96958615
6	CEBPB	chr5:96984131-96984412	HepG2	liver:	n/a	chr5:96984229-96984240
7	CEBPB	chr5:96984114-96984366	A549	lung:	n/a	chr5:96984229-96984240
8	CEBPB	chr5:97100346-97100779	IMR90	lung:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
9	CEBPB	chr5:97100446-97100707	K562	blood:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
10	CEBPB	chr5:96984266-96984278	K562	blood:	n/a	n/a
11	CEBPB	chr5:97070883-97071301	IMR90	lung:	n/a	n/a
12	CEBPB	chr5:97100388-97100797	Hela-S3	cervix:	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	chr5:97032370-97032668	HepG2	liver:	n/a	chr5:97032528-97032539
15	CEBPB	chr5:96958443-96958670	A549	lung:	n/a	chr5:96958584-96958595 chr5:96958604-96958615
16	CEBPB	chr5:97100392-97100766	HepG2	liver:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
17	CTCF	chr5:97061860-97062010	GM06990	blood:	n/a	n/a
18	CTCF	chr5:97061940-97062090	AG10803	skin:	n/a	n/a
19	CTCF	chr5:96970980-96971130	GM06990	blood:	n/a	chr5:96971076-96971094 chr5:96971079-96971088
20	CTCF	chr5:97061958-97062054	LNCaP	prostate:	n/a	n/a
21	CTCF	chr5:96971020-96971170	HepG2	liver:	n/a	chr5:96971076-96971094 chr5:96971079-96971088
22	CTCF	chr5:97061940-97062090	AG09309	skin:	n/a	n/a
23	CTCF	chr5:97053635-97053677	GM10266	blood:	n/a	n/a
24	CTCF	chr5:96971040-96971190	HCFaa	heart:	n/a	chr5:96971076-96971094 chr5:96971079-96971088
25	CTCF	chr5:96970960-96971110	HPAF	blood vessel:	n/a	chr5:96971076-96971094 chr5:96971079-96971088
26	CTCF	chr5:97066501-97066508	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr5:96959212-96959530	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr5:97061960-97062110	MCF-7	breast:	n/a	n/a
29	CTCF	chr5:97061940-97062090	MCF-7	breast:	n/a	n/a
30	CTCF	chr5:96959320-96959464	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr5:96971020-96971170	HCPEpiC	choroid plexus:	n/a	chr5:96971076-96971094 chr5:96971079-96971088
32	CTCF	chr5:97061880-97062030	GM12866	blood:	n/a	n/a
33	CTCF	chr5:97065452-97065475	K562	blood:	n/a	n/a
34	CTCF	chr5:96959280-96959430	Caco-2	colon:	n/a	n/a
35	CTCF	chr5:97066280-97066430	AG04450	lung:	n/a	n/a
36	CTCF	chr5:97036926-97036962	GM20000	blood:	n/a	n/a
37	CTCF	chr5:96971000-96971150	HCPEpiC	choroid plexus:	n/a	chr5:96971076-96971094 chr5:96971079-96971088
38	CTCF	chr5:97061880-97062030	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr5:97066380-97066530	HMEC	breast:	n/a	n/a
40	CTCF	chr5:96971020-96971170	HPAF	blood vessel:	n/a	chr5:96971076-96971094 chr5:96971079-96971088
41	CTCF	chr5:96960420-96960570	HPF	lung:	n/a	n/a
42	CTCF	chr5:97070940-97071090	HMEC	breast:	n/a	n/a
43	CTCF	chr5:97061960-97062110	GM12869	blood:	n/a	n/a
44	CTCF	chr5:97061860-97062010	GM12873	blood:	n/a	n/a
45	CTCF	chr5:97062020-97062170	GM12864	blood:	n/a	n/a
46	CTCF	chr5:97061880-97062030	HMEC	breast:	n/a	n/a
47	CTCF	chr5:97061960-97062110	HCT-116	colon:	n/a	n/a
48	CTCF	chr5:97061840-97061990	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr5:97061940-97062090	GM12873	blood:	n/a	n/a
50	CTCF	chr5:97061820-97061970	HVMF	connective:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:97027188..97030158-chr5:97031253..97033564,2	K562	blood:
2	chr5:97063042..97065906-chr5:97067363..97069421,2	MCF-7	breast:
3	chr5:97063042..97065906-chr5:97067363..97069421,2	MCF-7	breast:
4	chr5:96987103..96987619-chr5:97253568..97254119,2	MCF-7	breast:
5	chr5:97027188..97030158-chr5:97031253..97033564,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2215E18.1.1-2	chr5:97004255-97004366	NR_105028
2	lnc-CTD-2215E18.1.1-2	chr5:97006297-97006750	NONHSAT102931
3	lnc-CTD-2215E18.1.1-2	chr5:97006298-97006755	NR_105028
4	lnc-CTD-2215E18.1.1-2	chr5:97004254-97004366	NONHSAT102931
5	lnc-CTD-2215E18.1.1-2	chr5:97004255-97004366	XLOC_004483
6	lnc-CTD-2215E18.1.1-6	chr5:97073598-97074617	NONHSAT102935
7	lnc-CTD-2215E18.1.1-2	chr5:97006298-97006750	XLOC_004483

Variant related genes	Relation type
ENSG00000248931	TF binding region
ENSG00000251193	TF binding region

Extended variants
information (count: 3192 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3192 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543911292	chr5:96937403-96937404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1429870	chr5:96937422-96937423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114090303	chr5:96937453-96937454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188237362	chr5:96937455-96937456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191379879	chr5:96937457-96937458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569347309	chr5:96937467-96937468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569603585	chr5:96937492-96937493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375872889	chr5:96937527-96937528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552348367	chr5:96937546-96937547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73144980	chr5:96937596-96937597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114682863	chr5:96937616-96937617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548746960	chr5:96937622-96937623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376058731	chr5:96937636-96937637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183293429	chr5:96937694-96937695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115050526	chr5:96937708-96937709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187243207	chr5:96937720-96937721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555067358	chr5:96937760-96937761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558149805	chr5:96957823-96957824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs75403280	chr5:96957900-96957901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7722060	chr5:96957914-96957915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184670133	chr5:96957954-96957955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376324719	chr5:96957962-96957963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562399461	chr5:96957974-96957975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115556812	chr5:96958069-96958070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541185508	chr5:96958077-96958078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559820887	chr5:96958106-96958107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72775952	chr5:96958111-96958112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551774165	chr5:96958318-96958319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs60515999	chr5:96958320-96958321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35562274	chr5:96958332-96958333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372886798	chr5:96958350-96958351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1429868	chr5:96958371-96958372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549856222	chr5:96958372-96958373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114878301	chr5:96958377-96958378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61009572	chr5:96958429-96958430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534345343	chr5:96958430-96958431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74667498	chr5:96958477-96958478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535648926	chr5:96958482-96958483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571133922	chr5:96958533-96958534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148538567	chr5:96958582-96958583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554406059	chr5:96958596-96958597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189188339	chr5:96958698-96958699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs55869407	chr5:96958725-96958726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569627362	chr5:96958761-96958762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142856920	chr5:96958762-96958763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576402872	chr5:96958845-96958846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543788831	chr5:96958868-96958869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555792735	chr5:96958886-96958887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56200770	chr5:96958927-96958928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201499227	chr5:96958961-96958962	Enhancers	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:174 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96937400-96937800	Enhancers	HUVEC	blood vessel
2	chr5:96957800-96960400	Enhancers	Dnd41	blood
3	chr5:96959200-96960000	Enhancers	Fetal Thymus	thymus
4	chr5:96960200-96960800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:96960200-96961400	Enhancers	Osteobl	bone
6	chr5:96960400-96961200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:96960800-96962200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:96961200-96963200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:96961400-96963200	Weak transcription	Osteobl	bone
10	chr5:96962200-96962400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:96962400-96962800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:96962800-96963800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:96962800-96964400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:96962800-96964800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:96963000-96963200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:96963000-96963400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:96963000-96963800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:96963000-96963800	Enhancers	NHDF-Ad	bronchial
19	chr5:96963000-96964000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:96963000-96964200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:96963000-96964400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:96963000-96965200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:96963000-96965400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:96963200-96963400	Enhancers	Fetal Muscle Leg	muscle
25	chr5:96963200-96963600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:96963200-96964000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:96963200-96964800	Enhancers	Brain Germinal Matrix	brain
28	chr5:96963200-96965400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:96963200-96965400	Enhancers	Brain Hippocampus Middle	brain
30	chr5:96963200-96965400	Enhancers	Osteobl	bone
31	chr5:96963200-96965600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:96963400-96964400	Weak transcription	Fetal Muscle Leg	muscle
33	chr5:96963400-96965000	Enhancers	Fetal Stomach	stomach
34	chr5:96963600-96964400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:96963600-96964400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:96963800-96964000	Flanking Active TSS	NHDF-Ad	bronchial
37	chr5:96963800-96964200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:96963800-96964600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:96963800-96964800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:96964000-96964400	Enhancers	NHDF-Ad	bronchial
41	chr5:96964000-96965000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:96964000-96965400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:96964000-96965600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:96964200-96964600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:96964200-96965200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:96964400-96964600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:96964400-96964800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr5:96964400-96964800	Enhancers	Brain Angular Gyrus	brain
49	chr5:96964400-96965000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr5:96964400-96965000	Flanking Active TSS	NHDF-Ad	bronchial

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