Variant report

Variant	nsv526659
Chromosome Location	chr2:191023961-191027133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4853680	chr2:191023961-191023962	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148450305	chr2:191023989-191023990	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs35170793	chr2:191023996-191023997	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4241289	chr2:191024024-191024025	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370375966	chr2:191024030-191024031	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77716758	chr2:191024041-191024042	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557047416	chr2:191024053-191024054	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549558952	chr2:191024085-191024086	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114893050	chr2:191024108-191024109	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs570590017	chr2:191024111-191024112	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs183877675	chr2:191024225-191024226	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs72913453	chr2:191024234-191024235	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541711179	chr2:191024235-191024236	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535838198	chr2:191024298-191024299	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553424377	chr2:191024367-191024368	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs116307702	chr2:191024385-191024386	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541840274	chr2:191024412-191024413	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs563843568	chr2:191024416-191024417	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs575645293	chr2:191024420-191024421	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs545983719	chr2:191024469-191024470	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs16832382	chr2:191024496-191024497	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs569526824	chr2:191024522-191024523	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs77350143	chr2:191024550-191024551	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs34056809	chr2:191024582-191024583	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs375541210	chr2:191024652-191024653	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs368578263	chr2:191024681-191024682	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs561627768	chr2:191024705-191024706	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs528918285	chr2:191024822-191024823	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550052705	chr2:191024896-191024897	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568494666	chr2:191024906-191024907	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550298072	chr2:191024949-191024950	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141910494	chr2:191024965-191024966	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539120640	chr2:191024985-191024986	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193105961	chr2:191025010-191025011	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185500149	chr2:191025040-191025041	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78502480	chr2:191025065-191025066	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs60947110	chr2:191025069-191025070	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs199564184	chr2:191025074-191025075	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17791613	chr2:191025113-191025114	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553734069	chr2:191025119-191025120	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17791643	chr2:191025139-191025140	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs35079441	chr2:191025141-191025142	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544266366	chr2:191025144-191025145	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564615443	chr2:191025180-191025181	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs72913454	chr2:191025223-191025224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557029130	chr2:191025288-191025289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575705097	chr2:191025349-191025350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12623140	chr2:191025380-191025381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs563963810	chr2:191025392-191025393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12616677	chr2:191025425-191025426	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191021600-191024200	Enhancers	GM12878-XiMat	blood
2	chr2:191022800-191024000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:191022800-191024400	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:191023000-191025200	Enhancers	Brain Substantia Nigra	brain
5	chr2:191023200-191026200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:191023400-191024000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:191023400-191024000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:191023400-191024000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:191023400-191024000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:191023400-191024000	Enhancers	Brain Anterior Caudate	brain
11	chr2:191023400-191024000	Enhancers	Esophagus	oesophagus
12	chr2:191023400-191024000	Enhancers	Left Ventricle	heart
13	chr2:191023400-191024000	Enhancers	HepG2	liver
14	chr2:191023400-191024200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:191023400-191024200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:191023400-191024200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:191023400-191024400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:191023400-191024400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:191023400-191024400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:191023400-191024400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:191023400-191024400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:191023400-191024400	Enhancers	Brain Angular Gyrus	brain
23	chr2:191023400-191024400	Enhancers	Colonic Mucosa	Colon
24	chr2:191023400-191024400	Enhancers	Right Atrium	heart
25	chr2:191023400-191024600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:191023400-191024600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:191023400-191024600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr2:191023400-191024800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:191023400-191025400	Enhancers	Brain Hippocampus Middle	brain
30	chr2:191023600-191024400	Enhancers	Colon Smooth Muscle	Colon
31	chr2:191023600-191024400	Enhancers	Fetal Muscle Leg	muscle
32	chr2:191023600-191024400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:191023600-191025400	Enhancers	Adipose Nuclei	Adipose
34	chr2:191023600-191026800	Enhancers	Osteobl	bone
35	chr2:191023800-191024000	Active TSS	Rectal Smooth Muscle	rectum
36	chr2:191023800-191024200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr2:191023800-191024400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:191023800-191025400	Enhancers	NHDF-Ad	bronchial
39	chr2:191024000-191024200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:191024000-191024200	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr2:191024000-191024600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr2:191024000-191025000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:191024000-191025000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:191024000-191025000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:191024200-191024400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:191024200-191024400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr2:191024200-191024600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr2:191024200-191024800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:191024200-191024800	Weak transcription	GM12878-XiMat	blood
50	chr2:191024200-191025000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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