Variant report

Variant	nsv1003559
Chromosome Location	chr1:217354095-217418732
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:10)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:217398384..217401178-chr1:217402478..217405024,2	MCF-7	breast:
2	chr1:217394115..217396814-chr1:217420972..217423299,2	MCF-7	breast:
3	chr1:217418281..217419132-chr15:91474949..91475748,2	MCF-7	breast:
4	chr1:217414322..217416803-chr1:217420667..217423030,2	K562	blood:
5	chr1:217391403..217392065-chr17:54832414..54832922,2	MCF-7	breast:
6	chr1:217359070..217361285-chr1:217363724..217365876,2	K562	blood:
7	chr1:217413884..217416566-chr21:33031783..33034561,2	MCF-7	breast:
8	chr1:217409270..217409986-chr5:127479273..127479788,2	MCF-7	breast:
9	chr1:217398384..217401178-chr1:217402478..217405024,2	MCF-7	breast:
10	chr1:217359070..217361285-chr1:217363724..217365876,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ESRRG-1	chr1:217396085-217396164	ucscGeneNc_uc001hlp_2
2	lnc-ESRRG-1	chr1:217413435-217413716	ucscGeneNc_uc001hlp_2
3	lnc-ESRRG-1	chr1:217389904-217389996	ucscGeneNc_uc001hlp_2

No data

Variant related genes	Relation type
ENSG00000234509	chromatin interactions
ENSG00000184508	chromatin interactions
ENSG00000142168	chromatin interactions

Extended variants
information (count: 1082 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1082 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373991851	chr1:217354135-217354136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201378324	chr1:217354147-217354148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576607161	chr1:217354176-217354177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540799548	chr1:217354186-217354187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149927908	chr1:217354187-217354188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114977252	chr1:217354198-217354199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373399310	chr1:217354224-217354225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569623101	chr1:217354277-217354278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528915193	chr1:217354349-217354350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182599425	chr1:217354385-217354386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111748543	chr1:217354392-217354393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188026335	chr1:217354436-217354437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192300967	chr1:217354470-217354471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376753407	chr1:217354512-217354513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183382511	chr1:217354513-217354514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545289607	chr1:217354539-217354540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571875776	chr1:217354585-217354586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144978105	chr1:217354699-217354700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149059562	chr1:217354758-217354759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371964167	chr1:217354787-217354788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573965693	chr1:217354789-217354790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12042680	chr1:217354817-217354818	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553353826	chr1:217354830-217354831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571976191	chr1:217354863-217354864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144641019	chr1:217354869-217354870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71643449	chr1:217354870-217354871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187699544	chr1:217354884-217354885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192165355	chr1:217354894-217354895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543097557	chr1:217354910-217354911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12083568	chr1:217354922-217354923	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529003508	chr1:217354923-217354924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548664412	chr1:217354939-217354940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146676467	chr1:217354965-217354966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540649730	chr1:217355025-217355026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373133689	chr1:217355038-217355039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560785995	chr1:217355087-217355088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375835942	chr1:217355127-217355128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17045388	chr1:217355140-217355141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571861760	chr1:217355141-217355142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537678488	chr1:217355149-217355150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536792990	chr1:217355166-217355167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567627730	chr1:217355169-217355170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10863302	chr1:217355180-217355181	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs184242766	chr1:217355201-217355202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145188220	chr1:217355237-217355238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548707588	chr1:217355256-217355257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187996059	chr1:217355282-217355283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11117789	chr1:217355319-217355320	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs563492535	chr1:217355360-217355361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192833861	chr1:217355368-217355369	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Autism	14699429	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217354000-217359000	Enhancers	Fetal Heart	heart
2	chr1:217357000-217357600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:217357800-217358400	Enhancers	Adipose Nuclei	Adipose
4	chr1:217357800-217359000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:217358200-217358600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:217358400-217358800	Enhancers	Colon Smooth Muscle	Colon
7	chr1:217358600-217359000	Enhancers	Stomach Smooth Muscle	stomach
8	chr1:217358600-217361200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:217359000-217360600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:217359000-217360800	Weak transcription	Fetal Heart	heart
11	chr1:217360600-217362200	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:217360800-217362200	Enhancers	Colon Smooth Muscle	Colon
13	chr1:217360800-217362200	Enhancers	Fetal Stomach	stomach
14	chr1:217360800-217362400	Enhancers	Fetal Heart	heart
15	chr1:217361200-217362000	Enhancers	Fetal Lung	lung
16	chr1:217361200-217362200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:217365000-217365200	Enhancers	Fetal Intestine Large	intestine
18	chr1:217365400-217366000	Weak transcription	Fetal Intestine Large	intestine
19	chr1:217366000-217367000	Enhancers	Fetal Intestine Large	intestine
20	chr1:217366000-217367200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:217366400-217367000	Enhancers	NHEK	skin
22	chr1:217384800-217386400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:217398400-217399000	Enhancers	Adipose Nuclei	Adipose
24	chr1:217401200-217401800	Enhancers	Aorta	Aorta
25	chr1:217401400-217402200	Enhancers	Fetal Lung	lung
26	chr1:217401400-217402800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:217402800-217405800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:217405800-217406000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:217406000-217406800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:217406800-217407000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:217409800-217410800	Enhancers	Fetal Heart	heart
32	chr1:217410000-217411400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr1:217410400-217411000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:217417400-217418800	Enhancers	Aorta	Aorta
35	chr1:217418200-217418600	Enhancers	Fetal Brain Male	brain
36	chr1:217418200-217419000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:217418200-217419000	Enhancers	Adipose Nuclei	Adipose

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