Variant report

Variant	nsv961533
Chromosome Location	chr2:178272954-178276627
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178257565..178262041-chr2:178276576..178279686,5	K562	blood:
2	chr2:178264137..178265946-chr2:178272662..178275234,2	K562	blood:
3	chr2:178270779..178272321-chr2:178273568..178275361,2	K562	blood:
4	chr2:178271907..178274801-chr2:178278003..178280488,3	K562	blood:
5	chr2:178272386..178275782-chr2:178280969..178284019,3	K562	blood:
6	chr2:178273243..178275021-chr2:178276662..178279339,2	K562	blood:
7	chr2:178263413..178265591-chr2:178272891..178275550,2	K562	blood:

No data

Extended variants
information (count: 126 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142279541	chr2:178272954-178272955	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553821250	chr2:178272956-178272957	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576900070	chr2:178272996-178272997	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73025664	chr2:178273092-178273093	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs62175866	chr2:178273105-178273106	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573786903	chr2:178273108-178273109	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34682724	chr2:178273125-178273126	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377759157	chr2:178273126-178273127	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2123643	chr2:178273144-178273145	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs191246526	chr2:178273145-178273146	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375035524	chr2:178273165-178273166	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561702288	chr2:178273233-178273234	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572403856	chr2:178273237-178273238	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541109661	chr2:178273244-178273245	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184392149	chr2:178273257-178273258	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533284390	chr2:178273267-178273268	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570335382	chr2:178273279-178273280	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540730969	chr2:178273292-178273293	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553966411	chr2:178273334-178273335	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574027619	chr2:178273354-178273355	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374902950	chr2:178273363-178273364	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550312855	chr2:178273379-178273380	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563880159	chr2:178273389-178273390	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529564540	chr2:178273405-178273406	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190501032	chr2:178273424-178273425	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542638691	chr2:178273443-178273444	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566416030	chr2:178273646-178273647	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140484298	chr2:178273663-178273664	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547106491	chr2:178273670-178273671	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570501239	chr2:178273712-178273713	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115854128	chr2:178273739-178273740	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555901624	chr2:178273784-178273785	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182213742	chr2:178273789-178273790	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568769179	chr2:178273805-178273806	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs555235316	chr2:178273807-178273808	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs368815980	chr2:178273884-178273885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs185798768	chr2:178273931-178273932	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs145595223	chr2:178273940-178273941	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs11305351	chr2:178273960-178273961	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs58936343	chr2:178273991-178273992	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs201167938	chr2:178274117-178274118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578013994	chr2:178274140-178274141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543936373	chr2:178274182-178274183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563817904	chr2:178274228-178274229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs535725626	chr2:178274233-178274234	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs531904292	chr2:178274234-178274235	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs189927543	chr2:178274256-178274257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs111517395	chr2:178274307-178274308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs565144354	chr2:178274350-178274351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs570363692	chr2:178274356-178274357	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178258800-178277200	Weak transcription	Right Ventricle	heart
2	chr2:178258800-178285000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:178258800-178294200	Weak transcription	Thymus	Thymus
4	chr2:178260200-178280200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:178260400-178285600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:178262800-178279200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:178263200-178275400	Weak transcription	Brain Substantia Nigra	brain
8	chr2:178263400-178291800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr2:178264000-178273200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:178264200-178282800	Weak transcription	Dnd41	blood
11	chr2:178264200-178291600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:178264400-178280400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr2:178265600-178273200	Weak transcription	HSMMtube	muscle
14	chr2:178265600-178287000	Weak transcription	K562	blood
15	chr2:178266000-178280200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:178266800-178273800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:178267600-178273000	Enhancers	HepG2	liver
18	chr2:178268200-178277000	Weak transcription	Fetal Stomach	stomach
19	chr2:178268800-178278000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:178269000-178278200	Weak transcription	A549	lung
21	chr2:178269200-178283000	Weak transcription	HSMM	muscle
22	chr2:178269200-178283000	Weak transcription	Osteobl	bone
23	chr2:178270000-178274200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:178270000-178280200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:178270200-178275400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:178270200-178278200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:178270200-178280800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:178270400-178281000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:178270400-178281000	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:178270400-178294400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr2:178270800-178277800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:178271000-178274200	Weak transcription	Fetal Intestine Small	intestine
33	chr2:178271000-178274400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:178271000-178274400	Weak transcription	Small Intestine	intestine
35	chr2:178271200-178273400	Strong transcription	Primary hematopoietic stem cells	blood
36	chr2:178271200-178274000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:178271200-178276000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr2:178271600-178273200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:178271800-178273600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:178271800-178274400	Weak transcription	Lung	lung
41	chr2:178271800-178291600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:178272000-178273000	Enhancers	Psoas Muscle	Psoas
43	chr2:178272200-178273000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:178272200-178273000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr2:178272200-178273400	Strong transcription	Primary T cells from cord blood	blood
46	chr2:178272400-178274600	Weak transcription	Pancreas	Pancrea
47	chr2:178272400-178285600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr2:178272600-178273000	ZNF genes & repeats	GM12878-XiMat	blood
49	chr2:178272800-178273000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:178272800-178273600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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