Variant report

Variant	nsv873173
Chromosome Location	chr1:216151789-216204488
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:12)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216166090..216166621-chr1:216293129..216293695,2	MCF-7	breast:
2	chr1:216173759..216174488-chr1:216367163..216367696,2	MCF-7	breast:
3	chr1:216158513..216161013-chr1:216166176..216168523,2	MCF-7	breast:
4	chr1:216164234..216166867-chr1:216167548..216169584,2	K562	blood:
5	chr1:216165696..216166649-chr1:216292836..216293591,2	MCF-7	breast:
6	chr1:216174957..216175816-chr1:216394270..216394785,2	MCF-7	breast:
7	chr1:215883369..215884389-chr1:216165659..216166604,3	MCF-7	breast:
8	chr1:216158513..216161013-chr1:216166176..216168523,2	MCF-7	breast:
9	chr1:216164234..216166867-chr1:216167548..216169584,2	K562	blood:
10	chr1:216139397..216141428-chr1:216167682..216169961,2	K562	blood:
11	chr1:216165632..216166564-chr1:216394212..216395125,5	MCF-7	breast:
12	chr1:216165794..216166615-chr1:216367342..216367871,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD3-7	chr1:216151720-216151946	NONHSAT009477
2	lnc-KCTD3-7	chr1:216159549-216160769	NONHSAT009477
3	lnc-KCTD3-7	chr1:216158158-216158269	NONHSAT009477

No data

Variant related genes	Relation type
ENSG00000236292	chromatin interactions

Extended variants
information (count: 1565 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1565 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs634691	chr1:216151789-216151790	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs546622434	chr1:216151803-216151804	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs547138620	chr1:216151808-216151809	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs568365393	chr1:216151818-216151819	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs115642997	chr1:216151834-216151835	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs532553689	chr1:216151844-216151845	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs112524911	chr1:216151873-216151874	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs558680088	chr1:216151878-216151879	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs73092468	chr1:216151919-216151920	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs1408960	chr1:216151940-216151941	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554890200	chr1:216151943-216151944	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs6676430	chr1:216151964-216151965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116122546	chr1:216151988-216151989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1408961	chr1:216152033-216152034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558509928	chr1:216152047-216152048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2764948	chr1:216152082-216152083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189228529	chr1:216152126-216152127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148164502	chr1:216152147-216152148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141950486	chr1:216152153-216152154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10158247	chr1:216152181-216152182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371496504	chr1:216152198-216152199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544474486	chr1:216152240-216152241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6665759	chr1:216152242-216152243	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529931117	chr1:216152268-216152269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12403934	chr1:216152301-216152302	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs114961066	chr1:216152380-216152381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532640940	chr1:216152388-216152389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10158399	chr1:216152407-216152408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12071757	chr1:216152442-216152443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116923049	chr1:216152473-216152474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548877261	chr1:216152486-216152487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372272251	chr1:216152497-216152498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190969708	chr1:216152521-216152522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534130399	chr1:216152532-216152533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2813731	chr1:216152546-216152547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140089710	chr1:216152566-216152567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538333003	chr1:216152584-216152585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116479013	chr1:216152595-216152596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531214775	chr1:216152678-216152679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537410430	chr1:216152687-216152688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554859049	chr1:216152746-216152747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75969312	chr1:216152774-216152775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180741478	chr1:216152786-216152787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560374063	chr1:216152860-216152861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577442062	chr1:216152866-216152867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186183100	chr1:216152928-216152929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77504925	chr1:216152954-216152955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190721704	chr1:216152956-216152957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80153294	chr1:216152966-216152967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562094085	chr1:216152993-216152994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Liposarcoma	21253554	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216150400-216166200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:216154800-216155800	Enhancers	Fetal Intestine Large	intestine
3	chr1:216157000-216157600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr1:216157200-216157600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:216157600-216160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:216160000-216160400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:216160000-216161600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:216160400-216160800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:216160800-216161000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:216161000-216168000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:216164800-216165600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:216164800-216165600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:216164800-216165800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:216165000-216165200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:216165000-216166600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:216165200-216166200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:216165200-216166800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr1:216165600-216166200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:216166000-216166400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr1:216166000-216166600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:216166200-216166400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:216166200-216166600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:216166200-216167200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:216166400-216166600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:216166800-216174200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:216167200-216178000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:216167600-216168600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:216167800-216168600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:216167800-216168600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:216168000-216168200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:216168200-216168800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:216168800-216169000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:216174200-216174800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:216178800-216179800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:216178800-216180200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:216179400-216179800	Enhancers	GM12878-XiMat	blood
37	chr1:216179400-216179800	Enhancers	NH-A	brain
38	chr1:216182000-216184200	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:216182200-216183000	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr1:216183000-216187400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:216184200-216187200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:216185400-216185600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:216185600-216187200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:216187200-216187600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:216187200-216187800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:216187200-216188200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:216187200-216188200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr1:216187200-216188400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:216187200-216188600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr1:216187200-216188800	Enhancers	HUES64 Cell Line	embryonic stem cell

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