Variant report

Variant	nsv945289
Chromosome Location	chr1:215680875-215699974
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:214831934..214833558-chr1:215696482..215697599,5	MCF-7	breast:
2	chr1:214832291..214832816-chr1:215696580..215697541,3	MCF-7	breast:
3	chr1:215696600..215699320-chr1:215739621..215741254,2	K562	blood:
4	chr1:214981637..214982339-chr1:215699719..215700718,2	MCF-7	breast:
5	chr1:214834101..214834893-chr1:215690806..215691569,6	MCF-7	breast:
6	chr1:215576335..215577189-chr1:215690702..215691423,2	MCF-7	breast:
7	chr1:215693481..215695189-chr1:215695315..215696992,2	MCF-7	breast:
8	chr1:214831894..214832787-chr1:215690669..215691583,8	MCF-7	breast:
9	chr1:215676034..215678522-chr1:215684144..215685735,2	K562	blood:
10	chr1:214832277..214832863-chr1:215699611..215700462,2	MCF-7	breast:
11	chr1:215693961..215695654-chr1:215696205..215698619,2	MCF-7	breast:
12	chr1:215690701..215691338-chrX:53321371..53322017,2	MCF-7	breast:
13	chr1:215693481..215695189-chr1:215695315..215696992,2	MCF-7	breast:
14	chr1:215697429..215699454-chr19:49467742..49470425,2	K562	blood:
15	chr1:214833894..214834885-chr1:215699492..215700543,5	MCF-7	breast:
16	chr1:214506031..214506834-chr1:215699653..215700161,2	K562	blood:
17	chr1:214981919..214982804-chr1:215690586..215691218,5	MCF-7	breast:
18	chr1:215693961..215695654-chr1:215696205..215698619,2	MCF-7	breast:
19	chr1:215699599..215700316-chr1:215779687..215780673,3	MCF-7	breast:
20	chr1:215354644..215355511-chr1:215690679..215691509,5	MCF-7	breast:
21	chr1:215354699..215355750-chr1:215690763..215692016,3	MCF-7	breast:
22	chr1:215699301..215700324-chr1:215779613..215780228,4	MCF-7	breast:
23	chr1:214833941..214834902-chr1:215696603..215697420,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136636	chromatin interactions
ENSG00000087086	chromatin interactions

Extended variants
information (count: 355 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:355 , 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	rs112600746	chr1:215680880-215680881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186800652	chr1:215680895-215680896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375573887	chr1:215680901-215680902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560495109	chr1:215680950-215680951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12074653	chr1:215680988-215680989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548530252	chr1:215690080-215690081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115415274	chr1:215690081-215690082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527526510	chr1:215690087-215690088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547911491	chr1:215690089-215690090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570963434	chr1:215690119-215690120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73083450	chr1:215690160-215690161	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146523943	chr1:215690190-215690191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533029916	chr1:215690191-215690192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570302909	chr1:215690195-215690196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535756076	chr1:215690257-215690258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555680076	chr1:215690274-215690275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572302371	chr1:215690325-215690326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190961653	chr1:215690373-215690374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556390005	chr1:215690440-215690441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553407499	chr1:215690442-215690443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576877704	chr1:215690464-215690465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114890167	chr1:215690488-215690489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562322498	chr1:215690490-215690491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576024965	chr1:215690508-215690509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542138204	chr1:215690539-215690540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79905666	chr1:215690550-215690551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375239717	chr1:215690621-215690622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78659209	chr1:215690625-215690626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541812105	chr1:215690797-215690798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182746042	chr1:215690806-215690807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547624538	chr1:215690834-215690835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564572667	chr1:215690891-215690892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551953278	chr1:215690945-215690946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533290226	chr1:215690950-215690951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187396103	chr1:215690958-215690959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569939265	chr1:215690971-215690972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564774595	chr1:215691013-215691014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192910745	chr1:215691128-215691129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549216076	chr1:215691200-215691201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144787761	chr1:215691262-215691263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114164928	chr1:215691268-215691269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145586487	chr1:215691285-215691286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377352152	chr1:215691332-215691333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148875694	chr1:215691377-215691378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74897019	chr1:215691378-215691379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531123534	chr1:215691408-215691409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556265890	chr1:215691422-215691423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575945463	chr1:215691423-215691424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114975914	chr1:215691457-215691458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555659473	chr1:215691510-215691511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215680200-215681000	Enhancers	HSMM	muscle
2	chr1:215690000-215691400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:215690000-215691600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:215690000-215691600	Enhancers	Osteobl	bone
5	chr1:215690400-215691200	Enhancers	NHLF	lung
6	chr1:215690800-215691200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:215690800-215691200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:215690800-215691600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:215690800-215691800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:215690800-215692200	Enhancers	NHDF-Ad	bronchial
11	chr1:215691000-215691200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:215691000-215691200	Enhancers	NH-A	brain
13	chr1:215691400-215696600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:215691600-215696400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:215691600-215696400	Weak transcription	Osteobl	bone
16	chr1:215691600-215696600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:215691800-215697000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:215696000-215698000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:215696200-215697400	Enhancers	Fetal Intestine Small	intestine
20	chr1:215696400-215697000	Enhancers	Osteobl	bone
21	chr1:215696400-215697600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:215696400-215697600	Enhancers	Fetal Kidney	kidney
23	chr1:215696400-215698200	Enhancers	Fetal Intestine Large	intestine
24	chr1:215696600-215696800	Enhancers	HSMM	muscle
25	chr1:215696600-215697000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:215696600-215697000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:215696600-215698200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:215697000-215697200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:215697000-215697400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:215697000-215697400	Active TSS	NHDF-Ad	bronchial
31	chr1:215697000-215697400	Flanking Active TSS	Osteobl	bone
32	chr1:215697000-215697600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:215697000-215697600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:215697000-215697800	Enhancers	Liver	Liver
35	chr1:215697000-215697800	Enhancers	Duodenum Mucosa	Duodenum
36	chr1:215697000-215697800	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:215697000-215698000	Enhancers	NHLF	lung
38	chr1:215697200-215697400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:215697400-215697600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:215697400-215697600	Enhancers	Fetal Lung	lung
41	chr1:215697400-215697600	Enhancers	HSMM	muscle
42	chr1:215697400-215697600	Flanking Active TSS	NHDF-Ad	bronchial
43	chr1:215697400-215697600	Enhancers	Osteobl	bone
44	chr1:215697400-215697800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:215697400-215698000	Weak transcription	Fetal Intestine Small	intestine
46	chr1:215697600-215697800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:215697600-215699800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:215697600-215702000	Weak transcription	Fetal Kidney	kidney
49	chr1:215697600-215702200	Weak transcription	NHDF-Ad	bronchial
50	chr1:215697800-215699800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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