Variant report

Variant	nsv549530
Chromosome Location	chr1:246397588-246415062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:246175475..246176180-chr1:246409421..246410353,2	MCF-7	breast:
2	chr1:246407877..246409674-chr1:246412098..246414077,2	K562	blood:
3	chr1:246391990..246394704-chr1:246397912..246399430,2	K562	blood:
4	chr1:246392871..246395828-chr1:246399439..246401491,2	K562	blood:
5	chr1:246407877..246409674-chr1:246412098..246414077,2	K562	blood:
6	chr1:246175573..246176199-chr1:246409475..246409997,2	K562	blood:

Extended variants
information (count: 645 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12140567	chr1:246397588-246397589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572998993	chr1:246397630-246397631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190204176	chr1:246397669-246397670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181731303	chr1:246397672-246397673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146339458	chr1:246397724-246397725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11588827	chr1:246397744-246397745	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs368613738	chr1:246397810-246397811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368321985	chr1:246397828-246397829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547851912	chr1:246397834-246397835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201742732	chr1:246397835-246397836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199531890	chr1:246397837-246397838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200227086	chr1:246397841-246397842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201357920	chr1:246397850-246397851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199739103	chr1:246397858-246397859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11590574	chr1:246397859-246397860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200766823	chr1:246397866-246397867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201625320	chr1:246397870-246397871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11588843	chr1:246397880-246397881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12137499	chr1:246397884-246397885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12144900	chr1:246397886-246397887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202239077	chr1:246397887-246397888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11586903	chr1:246397890-246397891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201081016	chr1:246397897-246397898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202000716	chr1:246397899-246397900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560290505	chr1:246397916-246397917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376831714	chr1:246397917-246397918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200330309	chr1:246397923-246397924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58818843	chr1:246397951-246397952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539841112	chr1:246397966-246397967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551963494	chr1:246397991-246397992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs80090478	chr1:246398043-246398044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565306400	chr1:246398120-246398121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147532893	chr1:246398124-246398125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550900227	chr1:246398152-246398153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114912647	chr1:246398170-246398171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140116423	chr1:246398183-246398184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145514260	chr1:246398185-246398186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11590624	chr1:246398216-246398217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs142115244	chr1:246398263-246398264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58471606	chr1:246398268-246398269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs60410010	chr1:246398278-246398279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575382888	chr1:246398300-246398301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61285288	chr1:246398301-246398302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554948991	chr1:246398309-246398310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186337929	chr1:246398348-246398349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs116841664	chr1:246398358-246398359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs386641697	chr1:246398363-246398364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58551401	chr1:246398364-246398365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs180758831	chr1:246398374-246398375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562590447	chr1:246398376-246398377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	19805367	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246384000-246403800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:246393200-246403200	Weak transcription	Left Ventricle	heart
3	chr1:246395800-246398800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:246407400-246407800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:246407400-246408600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:246407400-246409800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:246407400-246409800	Enhancers	Osteobl	bone
8	chr1:246407600-246408000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:246407600-246410200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:246407800-246411000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:246408600-246409000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:246408800-246409800	Enhancers	HUVEC	blood vessel
13	chr1:246409000-246409200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:246409200-246409800	Enhancers	NHDF-Ad	bronchial
15	chr1:246409200-246411400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:246409600-246409800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:246409600-246409800	Enhancers	HepG2	liver
18	chr1:246409800-246410400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:246409800-246411200	Weak transcription	Osteobl	bone
20	chr1:246410200-246411200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:246410400-246410600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:246411000-246411400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:246411200-246411800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:246411200-246411800	Enhancers	Osteobl	bone
25	chr1:246411400-246411800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:246411400-246411800	Enhancers	Fetal Intestine Small	intestine
27	chr1:246411400-246411800	Enhancers	Stomach Mucosa	stomach
28	chr1:246411400-246411800	Enhancers	HepG2	liver
29	chr1:246411800-246413000	Weak transcription	Fetal Intestine Small	intestine
30	chr1:246411800-246413200	Weak transcription	Stomach Mucosa	stomach
31	chr1:246411800-246425600	Weak transcription	Osteobl	bone
32	chr1:246413000-246414000	Enhancers	Fetal Intestine Small	intestine
33	chr1:246413200-246413800	Enhancers	Stomach Mucosa	stomach
34	chr1:246413200-246414600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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