Variant report

Variant	nsv1014703
Chromosome Location	chr3:88623532-88733631
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	BACH1	chr3:88638381-88638592	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr3:88711997-88712302	GM12878	blood:	n/a	n/a
3	BCL3	chr3:88713587-88713902	GM12878	blood:	n/a	n/a
4	BCL3	chr3:88675968-88676295	GM12878	blood:	n/a	n/a
5	CEBPB	chr3:88649230-88649597	Hela-S3	cervix:	n/a	chr3:88649410-88649421
6	CEBPB	chr3:88710728-88710959	K562	blood:	n/a	chr3:88710822-88710835 chr3:88710822-88710833 chr3:88710822-88710835 chr3:88710824-88710833 chr3:88710824-88710833 chr3:88710824-88710835 chr3:88710824-88710833 chr3:88710824-88710833
7	CEBPB	chr3:88649252-88649556	HepG2	liver:	n/a	chr3:88649410-88649421
8	CEBPB	chr3:88702069-88702223	A549	lung:	n/a	chr3:88702138-88702149
9	CEBPB	chr3:88702000-88702262	HepG2	liver:	n/a	chr3:88702138-88702149
10	CEBPB	chr3:88666445-88666755	IMR90	lung:	n/a	chr3:88666604-88666613 chr3:88666602-88666613
11	CEBPB	chr3:88666509-88666693	A549	lung:	n/a	chr3:88666604-88666613 chr3:88666602-88666613
12	CEBPB	chr3:88710684-88710947	A549	lung:	n/a	chr3:88710822-88710835 chr3:88710822-88710833 chr3:88710822-88710835 chr3:88710824-88710833 chr3:88710824-88710833 chr3:88710824-88710835 chr3:88710824-88710833 chr3:88710824-88710833
13	CEBPB	chr3:88681450-88681824	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr3:88710669-88710955	IMR90	lung:	n/a	chr3:88710822-88710835 chr3:88710822-88710833 chr3:88710822-88710835 chr3:88710824-88710833 chr3:88710824-88710833 chr3:88710824-88710835 chr3:88710824-88710833 chr3:88710824-88710833
15	CEBPB	chr3:88666455-88666781	HepG2	liver:	n/a	chr3:88666604-88666613 chr3:88666602-88666613
16	CEBPB	chr3:88710652-88710979	HepG2	liver:	n/a	chr3:88710822-88710835 chr3:88710822-88710833 chr3:88710822-88710835 chr3:88710824-88710833 chr3:88710824-88710833 chr3:88710824-88710835 chr3:88710824-88710833 chr3:88710824-88710833
17	CEBPB	chr3:88653672-88654202	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr3:88710721-88710961	H1-hESC	embryonic stem cell:	n/a	chr3:88710822-88710835 chr3:88710822-88710833 chr3:88710822-88710835 chr3:88710824-88710833 chr3:88710824-88710833 chr3:88710824-88710835 chr3:88710824-88710833 chr3:88710824-88710833
19	CEBPB	chr3:88633331-88633652	HepG2	liver:	n/a	n/a
20	CEBPB	chr3:88633365-88633658	A549	lung:	n/a	n/a
21	CTCF	chr3:88690583-88690610	ProgFib	skin:	n/a	n/a
22	CTCF	chr3:88690360-88690510	NHEK	skin:	n/a	n/a
23	CTCF	chr3:88669840-88669990	HMEC	breast:	n/a	n/a
24	CTCF	chr3:88690280-88690430	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr3:88690240-88690390	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr3:88722634-88722652	GM13976	blood:	n/a	n/a
27	CTCF	chr3:88690260-88690410	AG10803	skin:	n/a	n/a
28	CTCF	chr3:88690320-88690470	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr3:88676685-88676750	GM13977	blood:	n/a	n/a
30	CTCF	chr3:88669760-88669910	HMEC	breast:	n/a	n/a
31	CTCF	chr3:88690346-88690431	Hela-S3	cervix:	n/a	n/a
32	CTCF	chr3:88690280-88690430	AG04449	skin:	n/a	n/a
33	CTCF	chr3:88690340-88690490	RPTEC	kidney:	n/a	n/a
34	CTCF	chr3:88690300-88690450	AG09319	gingival:	n/a	n/a
35	CTCF	chr3:88690300-88690450	AG09309	skin:	n/a	n/a
36	CTCF	chr3:88669902-88669944	MCF-7	breast:	n/a	n/a
37	CTCF	chr3:88690480-88690630	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr3:88690300-88690450	SAEC	small airway:	n/a	n/a
39	CTCF	chr3:88669853-88670009	LNCaP	prostate:	n/a	n/a
40	CTCF	chr3:88669880-88670030	RPTEC	kidney:	n/a	n/a
41	CTCF	chr3:88690320-88690470	AG09319	gingival:	n/a	n/a
42	CTCF	chr3:88690290-88690464	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr3:88690300-88690450	HCPEpiC	choroid plexus:	n/a	n/a
44	CTCF	chr3:88690324-88690394	LNCaP	prostate:	n/a	n/a
45	CTCF	chr3:88663180-88663330	HCM	heart:	n/a	n/a
46	CTCF	chr3:88690300-88690450	HAc	cerebellar:	n/a	n/a
47	CTCF	chr3:88729351-88729401	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr3:88669917-88669940	MCF-7	breast:	n/a	n/a
49	CTCF	chr3:88690240-88690390	HPF	lung:	n/a	n/a
50	CTCF	chr3:88690220-88690370	HBMEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:88710189..88712102-chr3:88747137..88749542,2	MCF-7	breast:
2	chr3:88669439..88670359-chr3:89148166..89148816,3	MCF-7	breast:
3	chr3:88690003..88690853-chr3:89163399..89164385,5	MCF-7	breast:
4	chr3:88662439..88664314-chr3:88669849..88671741,2	MCF-7	breast:
5	chr3:88630638..88632536-chr3:88637327..88639370,2	K562	blood:
6	chr3:88662439..88664314-chr3:88669849..88671741,2	MCF-7	breast:
7	chr3:88637113..88639564-chr3:88641167..88643213,2	MCF-7	breast:
8	chr3:88637113..88639564-chr3:88641167..88643213,2	MCF-7	breast:
9	chr3:88630638..88632536-chr3:88637327..88639370,2	K562	blood:
10	chr3:88690038..88690583-chr3:89901209..89901840,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf38-5	chr3:88650211-88650552	NONHSAT090709

Variant related genes	Relation type
NDUFA5P5	TF binding region

Extended variants
information (count: 2814 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:2814 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188006536	chr3:88623577-88623578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144225977	chr3:88623664-88623665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552357695	chr3:88623666-88623667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377563207	chr3:88623702-88623703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146566104	chr3:88623731-88623732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565440156	chr3:88623810-88623811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7433029	chr3:88623816-88623817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141308303	chr3:88623817-88623818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190622809	chr3:88623834-88623835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183176699	chr3:88623848-88623849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375189615	chr3:88623849-88623850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368229169	chr3:88623857-88623858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574131027	chr3:88623866-88623867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544490535	chr3:88623937-88623938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573925892	chr3:88623959-88623960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11128053	chr3:88623964-88623965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553159092	chr3:88624035-88624036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114041719	chr3:88624036-88624037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575221222	chr3:88624038-88624039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6551351	chr3:88624074-88624075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs6551352	chr3:88624134-88624135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150127673	chr3:88624166-88624167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145569029	chr3:88624173-88624174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148887209	chr3:88624177-88624178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114561816	chr3:88624259-88624260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560216393	chr3:88624272-88624273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143600466	chr3:88624304-88624305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188692728	chr3:88624318-88624319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551167216	chr3:88624362-88624363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72921987	chr3:88624442-88624443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs544094875	chr3:88624447-88624448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537037022	chr3:88624454-88624455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62269513	chr3:88624508-88624509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567571714	chr3:88624524-88624525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534877338	chr3:88624529-88624530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553224302	chr3:88624530-88624531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563296500	chr3:88624537-88624538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192531159	chr3:88624539-88624540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369775587	chr3:88624547-88624548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374900747	chr3:88624567-88624568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6768591	chr3:88624638-88624639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550356360	chr3:88624643-88624644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113395980	chr3:88624646-88624647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543413686	chr3:88624658-88624659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372156143	chr3:88624667-88624668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561706243	chr3:88624695-88624696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61312982	chr3:88624696-88624697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397789032	chr3:88624702-88624703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12629360	chr3:88624713-88624714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534898994	chr3:88624753-88624754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute myeloid leukemia	19651600	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88622400-88627800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:88622800-88623600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:88623200-88624000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:88623400-88623600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:88623400-88623800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:88623800-88627800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:88627800-88628200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:88627800-88628200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:88637000-88637400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:88637400-88637800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:88637400-88638600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:88637800-88638000	Enhancers	Brain Germinal Matrix	brain
13	chr3:88637800-88640000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:88637800-88640000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:88638000-88638600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr3:88638000-88639600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:88638000-88640000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr3:88638200-88638800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:88638200-88639200	Weak transcription	Brain Germinal Matrix	brain
20	chr3:88638400-88640000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:88638600-88639000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:88639000-88639400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:88639200-88640000	Enhancers	Brain Germinal Matrix	brain
24	chr3:88639400-88640000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:88640000-88644600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:88644600-88646000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:88645000-88646400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:88661000-88661600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:88661000-88662400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:88664600-88667800	Enhancers	Fetal Brain Female	brain
31	chr3:88665000-88666000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:88665000-88666600	Enhancers	Fetal Brain Male	brain
33	chr3:88665400-88667600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:88665600-88666000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:88665600-88666200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:88665600-88666200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:88665600-88666400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr3:88665600-88666400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:88665800-88666000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr3:88665800-88666200	Enhancers	Brain Germinal Matrix	brain
41	chr3:88666000-88669000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:88666200-88666600	Weak transcription	Brain Germinal Matrix	brain
43	chr3:88666200-88667400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:88666400-88666800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr3:88666400-88666800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:88666600-88667000	Weak transcription	Fetal Brain Male	brain
47	chr3:88666600-88668000	Enhancers	Brain Germinal Matrix	brain
48	chr3:88666800-88667800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr3:88666800-88667800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:88667000-88667600	Enhancers	Fetal Brain Male	brain

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