Variant report

Variant	nsv826598
Chromosome Location	chr1:213378117-213387293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 325 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149263820	chr1:213378138-213378139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144501974	chr1:213378169-213378170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572646767	chr1:213378230-213378231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28716178	chr1:213378239-213378240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570691613	chr1:213378306-213378307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115976868	chr1:213378326-213378327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148437536	chr1:213378366-213378367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541747641	chr1:213378388-213378389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574750953	chr1:213378393-213378394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377616690	chr1:213378413-213378414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72745843	chr1:213378509-213378510	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs76328873	chr1:213378541-213378542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572611313	chr1:213378546-213378547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546303109	chr1:213378564-213378565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564300818	chr1:213378594-213378595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530146813	chr1:213378601-213378602	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs565239700	chr1:213378614-213378615	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531502979	chr1:213378635-213378636	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs543448061	chr1:213378645-213378646	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2647387	chr1:213378760-213378761	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs561975314	chr1:213378780-213378781	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs528882957	chr1:213378808-213378809	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs547412184	chr1:213378836-213378837	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565323571	chr1:213378837-213378838	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs373092486	chr1:213378880-213378881	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs566444150	chr1:213378881-213378882	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs202105928	chr1:213378883-213378884	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs200209517	chr1:213378889-213378890	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs2817980	chr1:213378890-213378891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373299746	chr1:213378891-213378892	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs74139156	chr1:213378896-213378897	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs57191154	chr1:213378910-213378911	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs375259841	chr1:213379003-213379004	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs532893894	chr1:213379025-213379026	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs59498476	chr1:213379071-213379072	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570727438	chr1:213379072-213379073	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs531224673	chr1:213379083-213379084	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs377328853	chr1:213379084-213379085	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs538397018	chr1:213379085-213379086	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556583974	chr1:213379253-213379254	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550689655	chr1:213379271-213379272	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs569267510	chr1:213379378-213379379	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186585164	chr1:213379416-213379417	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs115117700	chr1:213379464-213379465	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs2817981	chr1:213379480-213379481	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs192480791	chr1:213379513-213379514	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs139737942	chr1:213379556-213379557	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs114603306	chr1:213379612-213379613	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs183230312	chr1:213379642-213379643	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs552218798	chr1:213379656-213379657	Weak transcription Strong transcription ZNF genes & repeats	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	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
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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr1:213328200-213387200	Weak transcription	Spleen	Spleen
3	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
4	chr1:213345600-213404600	Weak transcription	Osteobl	bone
5	chr1:213346200-213387400	Weak transcription	Gastric	stomach
6	chr1:213350400-213383200	Weak transcription	Placenta	Placenta
7	chr1:213357800-213387200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:213360400-213405200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:213361600-213386600	Weak transcription	Aorta	Aorta
10	chr1:213362200-213415400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:213368200-213378200	Weak transcription	K562	blood
12	chr1:213368200-213386600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:213368200-213387200	Weak transcription	Lung	lung
14	chr1:213369600-213388800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:213369800-213398200	Weak transcription	Fetal Heart	heart
16	chr1:213370600-213380200	Weak transcription	Fetal Stomach	stomach
17	chr1:213370800-213380600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:213370800-213427600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:213371000-213389400	Weak transcription	Right Ventricle	heart
20	chr1:213371600-213385000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:213371600-213385400	Weak transcription	NHDF-Ad	bronchial
22	chr1:213371800-213386000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:213371800-213387200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:213371800-213388800	Weak transcription	HepG2	liver
25	chr1:213371800-213390000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:213372000-213389800	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:213372000-213393200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:213372000-213405200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:213372600-213390200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:213372600-213413800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr1:213372800-213387200	Weak transcription	Liver	Liver
32	chr1:213372800-213414000	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:213373000-213378200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:213373000-213378200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr1:213373000-213385200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:213373000-213386000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:213373000-213398000	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:213373000-213405200	Weak transcription	Left Ventricle	heart
39	chr1:213373000-213414200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:213373000-213423000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:213373200-213378200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:213373200-213378400	Weak transcription	Primary B cells from cord blood	blood
43	chr1:213373200-213380000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:213373200-213381800	Weak transcription	Brain Germinal Matrix	brain
45	chr1:213373200-213385600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:213373200-213386600	Weak transcription	Dnd41	blood
47	chr1:213373200-213405000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr1:213373200-213417000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:213373400-213379800	Weak transcription	Fetal Lung	lung
50	chr1:213374200-213385600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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