Variant report

Variant	nsv998835
Chromosome Location	chr1:216439672-216482235
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:216457785..216460190-chr1:216476621..216478590,2	MCF-7	breast:
2	chr1:216457785..216460190-chr1:216476621..216478590,2	MCF-7	breast:
3	chr1:216443106..216445279-chr1:216447249..216449101,2	K562	blood:
4	chr1:216443106..216445279-chr1:216447249..216449101,2	K562	blood:
5	chr1:216480349..216481313-chr1:216739870..216740593,2	MCF-7	breast:
6	chr1:216441014..216443137-chr1:216448120..216450112,2	K562	blood:
7	chr1:216479663..216480513-chr1:216739675..216740627,3	MCF-7	breast:
8	chr1:216441014..216443137-chr1:216448120..216450112,2	K562	blood:

No data

Extended variants
information (count: 380 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545787712	chr1:216440617-216440618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562416241	chr1:216440640-216440641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576221102	chr1:216440670-216440671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564070262	chr1:216440742-216440743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370052702	chr1:216440791-216440792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541982697	chr1:216440874-216440875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528297904	chr1:216440881-216440882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114181377	chr1:216440884-216440885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186248394	chr1:216440892-216440893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138425892	chr1:216440897-216440898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143910183	chr1:216440924-216440925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144260349	chr1:216440931-216440932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372508031	chr1:216444806-216444807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147098903	chr1:216444917-216444918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542773058	chr1:216444924-216444925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552876499	chr1:216444925-216444926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138475258	chr1:216444929-216444930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115834021	chr1:216444936-216444937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565193838	chr1:216444946-216444947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs180937352	chr1:216444973-216444974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79421430	chr1:216445020-216445021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59175279	chr1:216445029-216445030	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561930643	chr1:216445042-216445043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142438987	chr1:216445045-216445046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546706491	chr1:216445072-216445073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186359546	chr1:216445113-216445114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566951393	chr1:216445134-216445135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150209000	chr1:216445181-216445182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552555984	chr1:216445182-216445183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569575467	chr1:216445188-216445189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538215756	chr1:216445189-216445190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571162115	chr1:216445217-216445218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545320133	chr1:216445223-216445224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138730745	chr1:216445232-216445233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189630217	chr1:216445253-216445254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534032016	chr1:216445270-216445271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181553605	chr1:216445288-216445289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186793154	chr1:216445307-216445308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112313595	chr1:216445320-216445321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191588444	chr1:216445331-216445332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1578245	chr1:216445356-216445357	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544131764	chr1:216445373-216445374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377103146	chr1:216445461-216445462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560523425	chr1:216445467-216445468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574423822	chr1:216445479-216445480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149342477	chr1:216445583-216445584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183158390	chr1:216445593-216445594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529215875	chr1:216445613-216445614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377641063	chr1:216445622-216445623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73098665	chr1:216445655-216445656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Pleomorphic liposarcoma	18784837	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216440600-216441000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:216444800-216445000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:216444800-216446600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr1:216445000-216446000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:216446000-216446400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:216446000-216446400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:216446000-216446800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr1:216446200-216446600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:216451000-216451400	Active TSS	Primary T cells from cord blood	blood
10	chr1:216458600-216459200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:216462400-216463000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:216466600-216466800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:216466800-216467000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr1:216466800-216467800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:216466800-216467800	Enhancers	Hela-S3	cervix
16	chr1:216467000-216467200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:216467200-216467800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr1:216473600-216475200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr1:216475400-216475800	Enhancers	Fetal Heart	heart
20	chr1:216480000-216481200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:216480400-216481000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:216480400-216481400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:216480800-216481200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:216480800-216481200	Enhancers	Hela-S3	cervix
25	chr1:216480800-216481400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr1:216481400-216484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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