Variant report

Variant	nsv873148
Chromosome Location	chr1:210665583-210994339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:72)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:
2	chr1:210848540..210850849-chr1:210853402..210855060,2	K562	blood:
3	chr1:210846826..210848354-chr1:210867968..210870812,2	K562	blood:
4	chr1:210913946..210916328-chr1:210919386..210921041,2	MCF-7	breast:
5	chr1:210547126..210548698-chr1:210757721..210760261,2	K562	blood:
6	chr1:210848540..210850849-chr1:210853402..210855060,2	K562	blood:
7	chr1:210884952..210885769-chr1:211307139..211308001,2	MCF-7	breast:
8	chr1:210757518..210759006-chr1:211307144..211308415,6	MCF-7	breast:
9	chr1:210739072..210739725-chr1:210757502..210758390,2	K562	blood:
10	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:
11	chr1:210805593..210807295-chr1:210811775..210814227,2	K562	blood:
12	chr1:210679010..210681998-chr1:210700828..210702736,2	K562	blood:
13	chr1:210913946..210916328-chr1:210919386..210921041,2	MCF-7	breast:
14	chr1:210865698..210867541-chr1:210869096..210870691,2	K562	blood:
15	chr1:210542669..210544192-chr1:210705476..210708034,2	MCF-7	breast:
16	chr1:210849903..210852743-chr1:210867034..210869915,2	K562	blood:
17	chr1:210726377..210729090-chr1:210731794..210733440,2	K562	blood:
18	chr1:210545990..210548540-chr1:210694737..210697805,3	MCF-7	breast:
19	chr1:210757458..210758223-chr1:211123026..211123527,2	MCF-7	breast:
20	chr1:210545831..210547443-chr1:210928453..210930887,2	K562	blood:
21	chr1:210863900..210866305-chr1:210870250..210872893,2	MCF-7	breast:
22	chr1:210881681..210884157-chr1:210888420..210890143,2	K562	blood:
23	chr1:210544665..210547038-chr1:210673279..210675772,2	MCF-7	breast:
24	chr1:210774618..210775333-chr2:171669099..171669650,2	MCF-7	breast:
25	chr1:210545788..210547730-chr1:210731704..210733690,2	K562	blood:
26	chr1:210741892..210744523-chr1:210745892..210748323,2	K562	blood:
27	chr1:210324019..210326908-chr1:210824141..210827661,3	K562	blood:
28	chr1:210811945..210813566-chr1:210817844..210819784,2	MCF-7	breast:
29	chr1:210972897..210975038-chr1:210985230..210987192,2	K562	blood:
30	chr1:210847848..210849645-chr1:210850888..210853142,2	K562	blood:
31	chr1:210701301..210703665-chr1:210706894..210708903,2	MCF-7	breast:
32	chr1:210972897..210975038-chr1:210985230..210987192,2	K562	blood:
33	chr1:210863900..210866305-chr1:210870250..210872893,2	MCF-7	breast:
34	chr1:210885115..210885938-chr1:211308340..211308909,2	K562	blood:
35	chr1:210865100..210867541-chr1:210867654..210870691,4	K562	blood:
36	chr1:210881681..210884157-chr1:210888420..210890143,2	K562	blood:
37	chr1:210757426..210758481-chr1:211307046..211308192,11	K562	blood:
38	chr1:210962591..210965046-chr1:210965364..210967328,3	K562	blood:
39	chr1:210715083..210717599-chr1:210731813..210734237,2	K562	blood:
40	chr1:210742495..210744523-chr1:210746149..210748323,2	K562	blood:
41	chr1:210940736..210943130-chr1:210948114..210951071,2	K562	blood:
42	chr1:210813954..210814732-chr20:17710698..17711234,2	MCF-7	breast:
43	chr1:210962591..210965046-chr1:210965364..210967328,3	K562	blood:
44	chr1:210741892..210744523-chr1:210745892..210748323,2	K562	blood:
45	chr1:210789734..210791286-chr1:210797851..210799560,2	K562	blood:
46	chr1:210829972..210830727-chr4:175163977..175164893,2	MCF-7	breast:
47	chr1:210726377..210729090-chr1:210731794..210733440,2	K562	blood:
48	chr1:210757380..210759177-chr1:211306876..211309058,23	MCF-7	breast:
49	chr1:210757852..210758385-chr1:211308379..211308928,2	K562	blood:
50	chr1:210846826..210848354-chr1:210867968..210870812,2	K562	blood:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH1-3	chr1:210851657-210855274	NONHSAT009270
2	lnc-HHAT-3	chr1:210913925-210914015	l_180_chr1:210907620-210915204_testes
3	lnc-KCNH1-4	chr1:210797798-210798636	ucscGeneNc_uc001hje_1
4	lnc-SERTAD4-2	chr1:210794377-210794413	l_178_chr1:210785660-210796066_testes
5	lnc-C1orf133-5	chr1:210904552-210904652	NONHSAT009271
6	lnc-SERTAD4-2	chr1:210795808-210796066	l_178_chr1:210785660-210796066_testes
7	lnc-SERTAD4-2	chr1:210795808-210796030	NONHSAT009269
8	lnc-C1orf133-4	chr1:210878279-210878525	l_179_chr1:210871966-210878525_adrenal
9	lnc-KCNH1-5	chr1:210707632-210707708	NONHSAT009268
10	lnc-C1orf133-5	chr1:210905301-210905399	NONHSAT009271
11	lnc-HHAT-3	chr1:210907621-210907713	l_180_chr1:210907620-210915204_testes
12	lnc-C1orf133-4	chr1:210877679-210877819	l_179_chr1:210871966-210878525_adrenal
13	lnc-C1orf133-4	chr1:210877101-210877648	l_179_chr1:210871966-210878525_adrenal
14	lnc-C1orf133-4	chr1:210871967-210872563	l_179_chr1:210871966-210878525_adrenal
15	lnc-C1orf133-4	chr1:210874184-210875444	l_179_chr1:210871966-210878525_adrenal
16	lnc-SERTAD4-2	chr1:210785659-210785730	NONHSAT009269
17	lnc-SERTAD4-2	chr1:210794377-210794413	NONHSAT009269
18	lnc-SERTAD4-2	chr1:210785661-210785730	l_178_chr1:210785660-210796066_testes
19	lnc-C1orf133-5	chr1:210893964-210894236	NONHSAT009271
20	lnc-HHAT-3	chr1:210914829-210915204	l_180_chr1:210907620-210915204_testes
21	lnc-KCNH1-5	chr1:210706781-210707062	NONHSAT009268

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HHAT	hsa-miR-193b-3p	chr1:210848489-210848510
2	HHAT	hsa-miR-193b-3p	chr1:210847722-210847743
3	HHAT	hsa-miR-193b-3p	chr1:210849212-210849231

Variant related genes	Relation type
ENSG00000143473	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000234233	chromatin interactions

Extended variants
information (count: 13116 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:13116 , 50 per page) page: 1 2 3 4 5 6 7 ... 263

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7546331	chr1:210665583-210665584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192999319	chr1:210665596-210665597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116548367	chr1:210665603-210665604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143143766	chr1:210665632-210665633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17188260	chr1:210665738-210665739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564731998	chr1:210665740-210665741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373351512	chr1:210665761-210665762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148237578	chr1:210665768-210665769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562337876	chr1:210665827-210665828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116104216	chr1:210665851-210665852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141251065	chr1:210665871-210665872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61828076	chr1:210666015-210666016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75509622	chr1:210666043-210666044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138201598	chr1:210666183-210666184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570405014	chr1:210666216-210666217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537794105	chr1:210666232-210666233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556062026	chr1:210666261-210666262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567317507	chr1:210666281-210666282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530236797	chr1:210666346-210666347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537467685	chr1:210666351-210666352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535303453	chr1:210666368-210666369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115023033	chr1:210666383-210666384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572183843	chr1:210666388-210666389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183974647	chr1:210666398-210666399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557834864	chr1:210666414-210666415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4478810	chr1:210666439-210666440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs544130685	chr1:210666450-210666451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562261815	chr1:210666486-210666487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574149490	chr1:210666487-210666488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541268636	chr1:210666520-210666521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4622068	chr1:210666536-210666537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs533290824	chr1:210666539-210666540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4348724	chr1:210666568-210666569	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs10556114	chr1:210666621-210666622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545581948	chr1:210666663-210666664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531484580	chr1:210666732-210666733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566041423	chr1:210666738-210666739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568283492	chr1:210666791-210666792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114502079	chr1:210666800-210666801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369351936	chr1:210666809-210666810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115191077	chr1:210666824-210666825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565781115	chr1:210666829-210666830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77013001	chr1:210666835-210666836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542742442	chr1:210666888-210666889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143458975	chr1:210666911-210666912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555977940	chr1:210666979-210666980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576074643	chr1:210667054-210667055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536670692	chr1:210667076-210667077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188917318	chr1:210667084-210667085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574260468	chr1:210667090-210667091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1729 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210639400-210668200	Weak transcription	Primary T cells from cord blood	blood
2	chr1:210643200-210674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:210653800-210678800	Weak transcription	HSMM	muscle
4	chr1:210657000-210669600	Weak transcription	Brain Substantia Nigra	brain
5	chr1:210663600-210669600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:210663600-210672400	Weak transcription	HSMMtube	muscle
7	chr1:210664800-210666000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:210664800-210669000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:210666000-210667600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:210666000-210669000	Weak transcription	Osteobl	bone
11	chr1:210667600-210672400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:210668000-210674000	Weak transcription	Aorta	Aorta
13	chr1:210669000-210670000	Enhancers	NH-A	brain
14	chr1:210669000-210670200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:210669000-210670200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:210669000-210670400	Enhancers	Osteobl	bone
17	chr1:210669400-210669800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:210669400-210670400	Enhancers	Brain Hippocampus Middle	brain
19	chr1:210669600-210670000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:210669600-210670000	Enhancers	Brain Angular Gyrus	brain
21	chr1:210669600-210670000	Enhancers	Brain Substantia Nigra	brain
22	chr1:210669600-210670200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:210669600-210670200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:210669600-210670200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr1:210670200-210673200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:210670200-210678800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:210672400-210672800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:210672400-210675200	Enhancers	HSMMtube	muscle
29	chr1:210672800-210673000	Weak transcription	Fetal Muscle Leg	muscle
30	chr1:210672800-210674000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:210673000-210673200	Enhancers	Fetal Muscle Leg	muscle
32	chr1:210673200-210673600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:210673200-210678800	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:210673600-210675200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:210673600-210679200	Weak transcription	Right Ventricle	heart
36	chr1:210674000-210674400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:210674000-210674400	ZNF genes & repeats	Aorta	Aorta
38	chr1:210674000-210674400	Enhancers	Right Atrium	heart
39	chr1:210674000-210675000	Enhancers	Fetal Heart	heart
40	chr1:210674000-210678400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:210674200-210674600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:210674400-210679000	Weak transcription	Aorta	Aorta
43	chr1:210674400-210719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:210674600-210678800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr1:210675000-210677800	Weak transcription	Fetal Heart	heart
46	chr1:210675200-210677800	Weak transcription	HSMMtube	muscle
47	chr1:210675200-210678800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:210677800-210678000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:210677800-210680400	Enhancers	Fetal Heart	heart
50	chr1:210677800-210680600	Enhancers	HSMMtube	muscle

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