Variant report

Variant	nsv462257
Chromosome Location	chr5:97005141-97108559
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	chr5:97100446-97100707	K562	blood:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
3	CEBPB	chr5:97032370-97032668	HepG2	liver:	n/a	chr5:97032528-97032539
4	CEBPB	chr5:97100392-97100766	HepG2	liver:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
5	CEBPB	chr5:97085589-97085836	HepG2	liver:	n/a	chr5:97085700-97085711
6	CEBPB	chr5:97100431-97100718	A549	lung:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
7	CEBPB	chr5:97100307-97100770	MCF-7	breast:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
8	CEBPB	chr5:97100388-97100797	Hela-S3	cervix:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
9	CEBPB	chr5:97070883-97071301	IMR90	lung:	n/a	n/a
10	CEBPB	chr5:97100304-97100855	MCF-7	breast:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
11	CEBPB	chr5:97100346-97100779	IMR90	lung:	n/a	chr5:97100575-97100586 chr5:97100573-97100586 chr5:97100573-97100584
12	CTCF	chr5:97061920-97062070	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr5:97061860-97062010	HEEpiC	esophagus:	n/a	n/a
14	CTCF	chr5:97061880-97062030	NHEK	skin:	n/a	n/a
15	CTCF	chr5:97061840-97061990	HUVEC	blood vessel:	n/a	n/a
16	CTCF	chr5:97066501-97066508	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr5:97061880-97062030	HPF	lung:	n/a	n/a
18	CTCF	chr5:97061900-97062050	HMEC	breast:	n/a	n/a
19	CTCF	chr5:97061960-97062110	GM12875	blood:	n/a	n/a
20	CTCF	chr5:97061940-97062090	HMF	breast:	n/a	n/a
21	CTCF	chr5:97066380-97066530	HMEC	breast:	n/a	n/a
22	CTCF	chr5:97061880-97062030	GM12866	blood:	n/a	n/a
23	CTCF	chr5:97061960-97062110	RPTEC	kidney:	n/a	n/a
24	CTCF	chr5:97061960-97062110	GM12869	blood:	n/a	n/a
25	CTCF	chr5:97061860-97062010	SAEC	small airway:	n/a	n/a
26	CTCF	chr5:97061960-97062110	MCF-7	breast:	n/a	n/a
27	CTCF	chr5:97061900-97062050	AG04450	lung:	n/a	n/a
28	CTCF	chr5:97061960-97062110	HCT-116	colon:	n/a	n/a
29	CTCF	chr5:97061960-97062110	SAEC	small airway:	n/a	n/a
30	CTCF	chr5:97061900-97062050	GM12870	blood:	n/a	n/a
31	CTCF	chr5:97061900-97062050	BE2_C	brain:	n/a	n/a
32	CTCF	chr5:97061940-97062090	AG10803	skin:	n/a	n/a
33	CTCF	chr5:97061980-97062130	AG09319	gingival:	n/a	n/a
34	CTCF	chr5:97058980-97059130	WERI-Rb-1	eye:	n/a	n/a
35	CTCF	chr5:97061920-97062070	HEEpiC	esophagus:	n/a	n/a
36	CTCF	chr5:97070940-97071090	HMEC	breast:	n/a	n/a
37	CTCF	chr5:97062010-97062030	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:97061940-97062090	AoAF	blood vessel:	n/a	n/a
39	CTCF	chr5:97058940-97059090	GM12872	blood:	n/a	n/a
40	CTCF	chr5:97061940-97062090	HEK293	kidney:	n/a	n/a
41	CTCF	chr5:97066280-97066430	AG04450	lung:	n/a	n/a
42	CTCF	chr5:97066510-97066536	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr5:97061760-97061910	HCM	heart:	n/a	n/a
44	CTCF	chr5:97047335-97047347	Spleen_OC	spleen:	n/a	n/a
45	CTCF	chr5:97047308-97047334	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr5:97062020-97062170	GM12864	blood:	n/a	n/a
47	CTCF	chr5:97061880-97062030	HMEC	breast:	n/a	n/a
48	CTCF	chr5:97061900-97062050	HCFaa	heart:	n/a	n/a
49	CTCF	chr5:97061900-97062050	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr5:97059020-97059170	HEK293	kidney:	n/a	n/a

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

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

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

Extended variants
information (count: 2396 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2396 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12653010	chr5:97005141-97005142	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187564443	chr5:97005148-97005149	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191289727	chr5:97005192-97005193	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116287636	chr5:97005197-97005198	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536562292	chr5:97005198-97005199	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547064936	chr5:97005215-97005216	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62377133	chr5:97005247-97005248	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146450515	chr5:97005251-97005252	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183789148	chr5:97005260-97005261	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140848279	chr5:97005292-97005293	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536880417	chr5:97005336-97005337	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548479781	chr5:97005346-97005347	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76617760	chr5:97005389-97005390	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368860106	chr5:97005390-97005391	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567063865	chr5:97005415-97005416	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534369018	chr5:97005416-97005417	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536152274	chr5:97005491-97005492	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552558532	chr5:97005540-97005541	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577181808	chr5:97005553-97005554	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115340087	chr5:97005601-97005602	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557248176	chr5:97005614-97005615	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12514513	chr5:97005615-97005616	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs72775984	chr5:97005629-97005630	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542844653	chr5:97005693-97005694	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559188062	chr5:97005715-97005716	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150075343	chr5:97005728-97005729	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72775987	chr5:97005758-97005759	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs79265030	chr5:97005790-97005791	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188109859	chr5:97005867-97005868	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532510389	chr5:97005898-97005899	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192768813	chr5:97005905-97005906	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554681587	chr5:97005914-97005915	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537239212	chr5:97005939-97005940	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373135973	chr5:97005943-97005944	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531747475	chr5:97005972-97005973	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558399984	chr5:97005976-97005977	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184797153	chr5:97006053-97006054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566683156	chr5:97006095-97006096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534426623	chr5:97006131-97006132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190063881	chr5:97006179-97006180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181643576	chr5:97006191-97006192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538660127	chr5:97006207-97006208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556671450	chr5:97006222-97006223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575538444	chr5:97006257-97006258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs987060	chr5:97006304-97006305	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs79393668	chr5:97006305-97006306	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs573041669	chr5:97006323-97006324	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs372896076	chr5:97006364-97006365	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs540754863	chr5:97006370-97006371	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs565408017	chr5:97006465-97006466	Weak transcription	lncRNA	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:97004800-97006000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:97006000-97026800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:97021000-97021800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:97021600-97021800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:97026800-97027400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:97027400-97035800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:97035600-97036000	Active TSS	Colon Smooth Muscle	Colon
8	chr5:97049800-97050600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:97050000-97050600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:97050000-97050800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:97050400-97050800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:97050800-97051800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:97052400-97052600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:97052800-97053400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:97059200-97059400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
16	chr5:97059400-97059600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:97059400-97059600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:97059400-97059600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:97059600-97064800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:97061600-97062000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:97062000-97063800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:97063800-97064400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:97064200-97064600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:97064800-97065000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:97065000-97065200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:97066600-97067800	Enhancers	Fetal Heart	heart
27	chr5:97067000-97067600	Enhancers	Psoas Muscle	Psoas
28	chr5:97067000-97067600	Enhancers	HSMMtube	muscle
29	chr5:97069000-97075000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr5:97070400-97071800	Enhancers	HMEC	breast
31	chr5:97070600-97071800	Enhancers	NHEK	skin
32	chr5:97070800-97071200	Enhancers	HUVEC	blood vessel
33	chr5:97070800-97071200	Enhancers	NHLF	lung
34	chr5:97070800-97071400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:97070800-97071600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:97070800-97071600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:97070800-97071600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:97070800-97071600	Enhancers	NHDF-Ad	bronchial
39	chr5:97070800-97071600	Enhancers	Osteobl	bone
40	chr5:97070800-97071800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:97070800-97071800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:97071200-97072000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:97071400-97072000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:97072600-97075200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr5:97085800-97086600	Enhancers	Dnd41	blood
46	chr5:97086000-97087200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:97086400-97087400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:97086400-97087600	Enhancers	Adipose Nuclei	Adipose
49	chr5:97091800-97092200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:97097000-97097800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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