Variant report

Variant	esv2759356
Chromosome Location	chr5:97028429-97138147
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	chr5:97085589-97085836	HepG2	liver:	n/a	chr5:97085700-97085711
4	CEBPB	chr5:97121118-97121214	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:97032370-97032668	HepG2	liver:	n/a	chr5:97032528-97032539
6	CEBPB	chr5:97100346-97100779	IMR90	lung:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
7	CEBPB	chr5:97100446-97100707	K562	blood:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
8	CEBPB	chr5:97100431-97100718	A549	lung:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
9	CEBPB	chr5:97100304-97100855	MCF-7	breast:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
10	CEBPB	chr5:97070883-97071301	IMR90	lung:	n/a	n/a
11	CEBPB	chr5:97100307-97100770	MCF-7	breast:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
12	CEBPB	chr5:97100392-97100766	HepG2	liver:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
13	CEBPB	chr5:97100388-97100797	Hela-S3	cervix:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
14	CEBPB	chr5:97135889-97136000	A549	lung:	n/a	n/a
15	CTCF	chr5:97036926-97036962	GM20000	blood:	n/a	n/a
16	CTCF	chr5:97061840-97061990	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr5:97061960-97062110	GM12869	blood:	n/a	n/a
18	CTCF	chr5:97061880-97062030	GM12865	blood:	n/a	n/a
19	CTCF	chr5:97061900-97062050	AG09319	gingival:	n/a	n/a
20	CTCF	chr5:97062000-97062150	NHLF	lung:	n/a	n/a
21	CTCF	chr5:97066280-97066430	AG04450	lung:	n/a	n/a
22	CTCF	chr5:97061760-97061910	HCM	heart:	n/a	n/a
23	CTCF	chr5:97061960-97062110	GM12875	blood:	n/a	n/a
24	CTCF	chr5:97061900-97062050	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr5:97062000-97062150	BJ	skin:	n/a	n/a
26	CTCF	chr5:97061940-97062090	AG10803	skin:	n/a	n/a
27	CTCF	chr5:97066380-97066530	HMEC	breast:	n/a	n/a
28	CTCF	chr5:97061900-97062050	AG04450	lung:	n/a	n/a
29	CTCF	chr5:97061880-97062030	GM12866	blood:	n/a	n/a
30	CTCF	chr5:97061940-97062090	HFF-Myc	foreskin:	n/a	n/a
31	CTCF	chr5:97061880-97062030	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr5:97061900-97062050	BE2_C	brain:	n/a	n/a
33	CTCF	chr5:97061940-97062090	HEK293	kidney:	n/a	n/a
34	CTCF	chr5:97061860-97062010	HRE	kidney:	n/a	n/a
35	CTCF	chr5:97070940-97071090	HMEC	breast:	n/a	n/a
36	CTCF	chr5:97112477-97112521	GM13977	blood:	n/a	n/a
37	CTCF	chr5:97061880-97062030	HPF	lung:	n/a	n/a
38	CTCF	chr5:97061900-97062050	GM12870	blood:	n/a	n/a
39	CTCF	chr5:97061940-97062090	BE2_C	brain:	n/a	n/a
40	CTCF	chr5:97061960-97062110	RPTEC	kidney:	n/a	n/a
41	CTCF	chr5:97047308-97047334	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr5:97061940-97062090	AoAF	blood vessel:	n/a	n/a
43	CTCF	chr5:97061940-97062090	HMF	breast:	n/a	n/a
44	CTCF	chr5:97061940-97062090	AG09309	skin:	n/a	n/a
45	CTCF	chr5:97061880-97062030	HMEC	breast:	n/a	n/a
46	CTCF	chr5:97061660-97061810	HMF	breast:	n/a	n/a
47	CTCF	chr5:97061860-97062010	SAEC	small airway:	n/a	n/a
48	CTCF	chr5:97061860-97062010	GM12873	blood:	n/a	n/a
49	CTCF	chr5:97061860-97062010	AG10803	skin:	n/a	n/a
50	CTCF	chr5:97066501-97066508	Hela-S3	cervix:	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	chr5:97063042..97065906-chr5:97067363..97069421,2	MCF-7	breast:
4	chr5:97113626..97116438-chr5:97121561..97123647,2	K562	blood:
5	chr5:97027188..97030158-chr5:97031253..97033564,2	K562	blood:
6	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: 1539 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1539 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4869387	chr5:97028429-97028430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150944959	chr5:97028477-97028478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527768761	chr5:97028486-97028487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189735186	chr5:97028487-97028488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140747736	chr5:97028490-97028491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531699541	chr5:97028492-97028493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201763545	chr5:97028588-97028589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568724155	chr5:97028675-97028676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529559757	chr5:97028750-97028751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182728967	chr5:97028756-97028757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552126229	chr5:97028783-97028784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369626841	chr5:97028788-97028789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566607001	chr5:97028793-97028794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533629498	chr5:97028830-97028831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11398639	chr5:97028836-97028837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112515323	chr5:97028839-97028840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374553886	chr5:97028855-97028856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537922583	chr5:97028865-97028866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115630380	chr5:97028875-97028876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10463214	chr5:97028920-97028921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567737082	chr5:97028926-97028927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376831836	chr5:97028927-97028928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570368076	chr5:97028928-97028929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372463526	chr5:97028929-97028930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11135521	chr5:97028930-97028931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574385537	chr5:97028932-97028933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553697864	chr5:97028934-97028935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192156099	chr5:97028936-97028937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111484806	chr5:97029039-97029040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61170494	chr5:97029087-97029088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs200265649	chr5:97029138-97029139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116114356	chr5:97029151-97029152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545627171	chr5:97029156-97029157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144027699	chr5:97029187-97029188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372315370	chr5:97029196-97029197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564566626	chr5:97029202-97029203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200809693	chr5:97029206-97029207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184706832	chr5:97029209-97029210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543796476	chr5:97029219-97029220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576110933	chr5:97029236-97029237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562410516	chr5:97029253-97029254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138776141	chr5:97029258-97029259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141825132	chr5:97029275-97029276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560008126	chr5:97029351-97029352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145527312	chr5:97029397-97029398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73141430	chr5:97029420-97029421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188613042	chr5:97029432-97029433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193130384	chr5:97029461-97029462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537487614	chr5:97029514-97029515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549355073	chr5:97029544-97029545	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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