Variant report

Variant	nsv873150
Chromosome Location	chr1:210808270-210893233
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:28)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210805593..210807295-chr1:210811775..210814227,2	K562	blood:
2	chr1:210865100..210867541-chr1:210867654..210870691,4	K562	blood:
3	chr1:210849903..210852743-chr1:210867034..210869915,2	K562	blood:
4	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:
5	chr1:210811945..210813566-chr1:210817844..210819784,2	MCF-7	breast:
6	chr1:210884924..210885825-chr1:211307336..211308125,5	MCF-7	breast:
7	chr1:210885115..210885938-chr1:211308340..211308909,2	K562	blood:
8	chr1:210884952..210885769-chr1:211307139..211308001,2	MCF-7	breast:
9	chr1:210813066..210813569-chr17:46986732..46987358,2	HCT-116	colon:
10	chr1:210881681..210884157-chr1:210888420..210890143,2	K562	blood:
11	chr1:210848540..210850849-chr1:210853402..210855060,2	K562	blood:
12	chr1:210847848..210849645-chr1:210850888..210853142,2	K562	blood:
13	chr1:210881681..210884157-chr1:210888420..210890143,2	K562	blood:
14	chr1:210848540..210850849-chr1:210853402..210855060,2	K562	blood:
15	chr1:210822081..210825153-chr1:210825536..210827144,3	K562	blood:
16	chr1:210863900..210866305-chr1:210870250..210872893,2	MCF-7	breast:
17	chr1:210324019..210326908-chr1:210824141..210827661,3	K562	blood:
18	chr1:210863900..210866305-chr1:210870250..210872893,2	MCF-7	breast:
19	chr1:210846826..210848354-chr1:210867968..210870812,2	K562	blood:
20	chr1:210846826..210848354-chr1:210867968..210870812,2	K562	blood:
21	chr1:210811945..210813566-chr1:210817844..210819784,2	MCF-7	breast:
22	chr1:210813954..210814732-chr20:17710698..17711234,2	MCF-7	breast:
23	chr1:210865698..210867541-chr1:210869096..210870691,2	K562	blood:
24	chr1:210865698..210867541-chr1:210869096..210870691,2	K562	blood:
25	chr1:210829972..210830727-chr4:175163977..175164893,2	MCF-7	breast:
26	chr1:210865100..210867541-chr1:210867654..210870691,4	K562	blood:
27	chr1:210847848..210849645-chr1:210850888..210853142,2	K562	blood:
28	chr1:210849903..210852743-chr1:210867034..210869915,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf133-4	chr1:210878279-210878525	l_179_chr1:210871966-210878525_adrenal
2	lnc-C1orf133-4	chr1:210874184-210875444	l_179_chr1:210871966-210878525_adrenal
3	lnc-C1orf133-4	chr1:210871967-210872563	l_179_chr1:210871966-210878525_adrenal
4	lnc-C1orf133-4	chr1:210877679-210877819	l_179_chr1:210871966-210878525_adrenal
5	lnc-KCNH1-3	chr1:210851657-210855274	NONHSAT009270
6	lnc-C1orf133-4	chr1:210877101-210877648	l_179_chr1:210871966-210878525_adrenal

No data

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

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

Variant related genes	Relation type
ENSG00000143473	chromatin interactions

Extended variants
information (count: 3507 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3507 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4951488	chr1:210808270-210808271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559412960	chr1:210808287-210808288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549543680	chr1:210808303-210808304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189330302	chr1:210808317-210808318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180935059	chr1:210808320-210808321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553066710	chr1:210808328-210808329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565982723	chr1:210808331-210808332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539314103	chr1:210808349-210808350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557936174	chr1:210808369-210808370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575881095	chr1:210808386-210808387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144392229	chr1:210808392-210808393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140165650	chr1:210808498-210808499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533283479	chr1:210808507-210808508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11388701	chr1:210808524-210808525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs67571108	chr1:210808525-210808526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56848015	chr1:210808537-210808538	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528588195	chr1:210808541-210808542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540647429	chr1:210808552-210808553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559048938	chr1:210808579-210808580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75209740	chr1:210808684-210808685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141970544	chr1:210808704-210808705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186156665	chr1:210808748-210808749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531165525	chr1:210808780-210808781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549578610	chr1:210808821-210808822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190181471	chr1:210808844-210808845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4951688	chr1:210808870-210808871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs146313802	chr1:210808877-210808878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200681207	chr1:210808902-210808903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182842839	chr1:210808903-210808904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139496063	chr1:210808941-210808942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61827412	chr1:210808949-210808950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs569598711	chr1:210808985-210808986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74158957	chr1:210809066-210809067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572454396	chr1:210809086-210809087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374946535	chr1:210809101-210809102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185985574	chr1:210809140-210809141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76076339	chr1:210809200-210809201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542805224	chr1:210809223-210809224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577610447	chr1:210809238-210809239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544977564	chr1:210809263-210809264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35393192	chr1:210809269-210809270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564000947	chr1:210809275-210809276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12046941	chr1:210809297-210809298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116165504	chr1:210809298-210809299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533171445	chr1:210809328-210809329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77835448	chr1:210809379-210809380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368236410	chr1:210809382-210809383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528600680	chr1:210809403-210809404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546826625	chr1:210809404-210809405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565370946	chr1:210809477-210809478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210795400-210822600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:210801600-210823000	Weak transcription	Aorta	Aorta
3	chr1:210802000-210815000	Weak transcription	Pancreas	Pancrea
4	chr1:210805600-210808600	Enhancers	Brain Anterior Caudate	brain
5	chr1:210805800-210808400	Enhancers	Brain Substantia Nigra	brain
6	chr1:210806000-210808400	Enhancers	Brain Cingulate Gyrus	brain
7	chr1:210806200-210808600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:210806600-210808400	Enhancers	Brain Angular Gyrus	brain
9	chr1:210806800-210808400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:210807200-210816000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:210807800-210808600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:210807800-210808600	Enhancers	HSMMtube	muscle
13	chr1:210807800-210820400	Weak transcription	HSMM	muscle
14	chr1:210808000-210808600	Weak transcription	Right Atrium	heart
15	chr1:210808200-210808800	Weak transcription	Brain Hippocampus Middle	brain
16	chr1:210808400-210809000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:210808600-210808800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:210808600-210808800	Enhancers	Right Atrium	heart
19	chr1:210808600-210820400	Weak transcription	HSMMtube	muscle
20	chr1:210808800-210809000	Enhancers	Brain Hippocampus Middle	brain
21	chr1:210811600-210812000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:210813000-210813200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:210813200-210819000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:210815000-210815200	ZNF genes & repeats	Pancreas	Pancrea
25	chr1:210815200-210827000	Weak transcription	Pancreas	Pancrea
26	chr1:210818400-210821800	Enhancers	Fetal Stomach	stomach
27	chr1:210818600-210819400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:210818600-210822200	Enhancers	HepG2	liver
29	chr1:210818800-210819400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:210818800-210819400	Enhancers	Placenta	Placenta
31	chr1:210818800-210821800	Enhancers	Fetal Muscle Leg	muscle
32	chr1:210819000-210819200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:210819000-210819400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:210819000-210819400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:210819000-210819400	Enhancers	Brain Anterior Caudate	brain
36	chr1:210819000-210819400	Enhancers	Gastric	stomach
37	chr1:210819000-210819400	Enhancers	Left Ventricle	heart
38	chr1:210819000-210819600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:210819000-210819800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr1:210819000-210820000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:210819000-210821000	Enhancers	Ovary	ovary
42	chr1:210819000-210822000	Enhancers	Fetal Lung	lung
43	chr1:210819200-210819400	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:210819200-210819600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:210819200-210819600	Enhancers	Liver	Liver
46	chr1:210819200-210819800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:210819200-210820800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:210819400-210819600	Enhancers	Fetal Brain Female	brain
49	chr1:210819400-210820200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:210819400-210820800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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