Variant report

Variant	nsv821728
Chromosome Location	chr2:133036945-133039103
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:46)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:133038935..133039656-chr8:56754719..56755312,2	MCF-7	breast:
2	chr2:133038138..133038670-chr5:71146858..71147412,3	MCF-7	breast:
3	chr2:120288604..120289171-chr2:133037653..133038211,2	MCF-7	breast:
4	chr2:133038209..133039052-chr5:71146751..71147399,3	MCF-7	breast:
5	chr2:133037534..133038150-chr21:9827119..9827790,2	MCF-7	breast:
6	chr1:91852368..91853074-chr2:133036534..133037037,3	MCF-7	breast:
7	chr2:133034621..133037562-chrX:108296217..108297769,2	MCF-7	breast:
8	chr1:108113044..108113591-chr2:133038209..133039151,2	MCF-7	breast:
9	chr1:91852784..91853360-chr2:133037036..133037536,2	MCF-7	breast:
10	chr2:133036134..133038165-chr21:9825266..9827266,2	K562	blood:
11	chr2:133036060..133038050-chrX:108295932..108297713,2	K562	blood:
12	chr17:31149756..31151304-chr2:133036010..133037634,2	MCF-7	breast:
13	chr1:108112622..108113624-chr2:133037951..133038926,4	MCF-7	breast:
14	chr2:133038177..133039677-chr2:230044041..230045609,2	MCF-7	breast:
15	chr19:24184114..24184636-chr2:133038429..133039143,2	MCF-7	breast:
16	chr2:133036040..133038933-chr8:70602384..70604113,2	K562	blood:
17	chr16:33961306..33965571-chr2:133034531..133038474,4	K562	blood:
18	chr2:133023726..133025567-chr2:133036787..133038950,2	K562	blood:
19	chr1:108113122..108115024-chr2:133036001..133038158,2	K562	blood:
20	chr2:133038170..133038914-chr2:230045097..230046105,3	MCF-7	breast:
21	chr1:91851302..91853083-chr2:133035035..133039055,6	K562	blood:
22	chr1:156186275..156187889-chr2:133036670..133039645,2	K562	blood:
23	chr2:133036654..133038926-chr2:230045488..230047023,2	K562	blood:
24	chr19:24183267..24184972-chr2:133036687..133040151,3	K562	blood:
25	chr2:133034643..133038120-chr20:26188506..26190514,4	MCF-7	breast:
26	chr2:133038471..133039156-chr4:70296229..70297178,3	MCF-7	breast:
27	chr18:13749839..13751339-chr2:133036649..133038165,2	MCF-7	breast:
28	chr1:91851583..91854616-chr2:133036036..133038051,4	MCF-7	breast:
29	chr1:91852393..91852995-chr2:133036535..133037053,3	MCF-7	breast:
30	chr2:133037674..133038178-chr21:9826291..9827058,2	MCF-7	breast:
31	chr17:31149448..31151294-chr2:133036023..133039051,5	K562	blood:
32	chr2:133035583..133038926-chr2:230044088..230047023,3	K562	blood:
33	chr1:91852396..91852987-chr2:133036550..133037057,2	MCF-7	breast:
34	chr2:133034513..133038165-chr21:9824366..9827688,5	K562	blood:
35	chr17:31149455..31151173-chr2:133037551..133039052,2	K562	blood:
36	chr19:24184128..24185106-chr2:133038164..133039151,2	MCF-7	breast:
37	chr2:133038140..133038648-chr5:71146774..71147415,2	MCF-7	breast:
38	chr2:133038170..133038714-chr2:230045008..230045532,2	MCF-7	breast:
39	chr17:31149835..31151349-chr2:133035877..133037511,2	MCF-7	breast:
40	chr2:133036012..133038474-chr20:26188735..26191734,4	K562	blood:
41	chr2:133038137..133038973-chr2:230045043..230045602,2	MCF-7	breast:
42	chr2:133038216..133038968-chr5:71146910..71147410,2	K562	blood:
43	chr2:133034522..133037379-chr6:119557092..119560188,5	MCF-7	breast:
44	chr2:133034652..133037532-chr8:82753267..82756202,5	MCF-7	breast:
45	chr2:133011942..133013448-chr2:133036648..133038896,2	K562	blood:
46	chr2:133036040..133038933-chr8:70602384..70604113,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-7	chr2:133037726-133037732	NONHSAT074524
2	lnc-GPR39-7	chr2:133038981-133039086	NONHSAT074524
3	lnc-GPR39-7	chr2:133038656-133038732	NONHSAT074524

No data

Variant related genes	Relation type
ENSG00000256642	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000207986	chromatin interactions
ENSG00000104497	chromatin interactions
ENSG00000264462	chromatin interactions

Extended variants
information (count: 406 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76972194	chr2:133036945-133036946	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs150941833	chr2:133036946-133036947	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs79113468	chr2:133036959-133036960	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs76358139	chr2:133036960-133036961	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs79862373	chr2:133036985-133036986	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs75440119	chr2:133036996-133036997	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs76164437	chr2:133037000-133037001	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs74598569	chr2:133037001-133037002	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs376329506	chr2:133037006-133037007	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs386650652	chr2:133037010-133037011	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs372781437	chr2:133037011-133037012	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs566609221	chr2:133037015-133037016	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs533853955	chr2:133037021-133037022	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs75555880	chr2:133037022-133037023	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs78613232	chr2:133037023-133037024	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs75269168	chr2:133037024-133037025	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs537817050	chr2:133037044-133037045	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs556590443	chr2:133037047-133037048	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs76444950	chr2:133037051-133037052	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs375074248	chr2:133037053-133037054	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs80278065	chr2:133037055-133037056	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs75515675	chr2:133037056-133037057	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs368752440	chr2:133037057-133037058	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs578162988	chr2:133037061-133037062	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs78908739	chr2:133037063-133037064	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs79475123	chr2:133037066-133037067	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs538893934	chr2:133037073-133037074	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs78871762	chr2:133037074-133037075	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs553937301	chr2:133037075-133037076	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs74838251	chr2:133037077-133037078	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs77960767	chr2:133037078-133037079	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs572241144	chr2:133037079-133037080	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs78828480	chr2:133037081-133037082	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs74893482	chr2:133037084-133037085	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs542690695	chr2:133037088-133037089	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs78878190	chr2:133037089-133037090	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs74825798	chr2:133037093-133037094	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs561013354	chr2:133037096-133037097	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs76822977	chr2:133037104-133037105	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs73958521	chr2:133037108-133037109	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs35223940	chr2:133037110-133037111	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs73958522	chr2:133037115-133037116	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs76394245	chr2:133037116-133037117	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs74380535	chr2:133037123-133037124	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs75278727	chr2:133037129-133037130	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs76291689	chr2:133037138-133037139	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs73958523	chr2:133037140-133037141	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs73958524	chr2:133037153-133037154	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs142440344	chr2:133037154-133037155	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs75327098	chr2:133037166-133037167	ZNF genes & repeats Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133018600-133039200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:133018600-133039200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr2:133018600-133039400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr2:133022200-133039200	ZNF genes & repeats	Colonic Mucosa	Colon
5	chr2:133022400-133039200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr2:133022800-133039400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
7	chr2:133022800-133039400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
8	chr2:133023000-133037200	ZNF genes & repeats	Fetal Intestine Large	intestine
9	chr2:133025000-133039200	ZNF genes & repeats	Dnd41	blood
10	chr2:133025000-133039400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:133025800-133039400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr2:133027200-133040600	ZNF genes & repeats	Fetal Stomach	stomach
13	chr2:133028200-133037000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:133030800-133039400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr2:133031400-133039200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr2:133033600-133039200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr2:133033600-133039400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:133033600-133039400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:133035000-133038200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:133035000-133038200	Weak transcription	Fetal Lung	lung
21	chr2:133035200-133039200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:133035400-133037200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr2:133035800-133037200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
24	chr2:133035800-133037200	ZNF genes & repeats	NHLF	lung
25	chr2:133035800-133039200	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr2:133035800-133039200	ZNF genes & repeats	Esophagus	oesophagus
27	chr2:133036200-133039000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:133036400-133039200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
29	chr2:133036600-133038000	Weak transcription	Right Atrium	heart
30	chr2:133036800-133038000	Weak transcription	Primary T cells from cord blood	blood
31	chr2:133036800-133038000	Weak transcription	Left Ventricle	heart
32	chr2:133036800-133038200	Weak transcription	Fetal Kidney	kidney
33	chr2:133037000-133038200	Weak transcription	Brain Anterior Caudate	brain
34	chr2:133037000-133038200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:133037800-133039200	ZNF genes & repeats	Gastric	stomach
36	chr2:133038000-133038200	Bivalent/Poised TSS	Psoas Muscle	Psoas
37	chr2:133038000-133038200	Bivalent/Poised TSS	Right Ventricle	heart
38	chr2:133038000-133039200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:133038000-133039200	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr2:133038000-133039200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:133038000-133039200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr2:133038000-133039200	ZNF genes & repeats	Left Ventricle	heart
43	chr2:133038000-133039200	ZNF genes & repeats	Lung	lung
44	chr2:133038000-133039200	ZNF genes & repeats	Pancreas	Pancrea
45	chr2:133038000-133039200	ZNF genes & repeats	Right Atrium	heart
46	chr2:133038000-133039200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr2:133038000-133039200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
48	chr2:133038000-133039200	ZNF genes & repeats	Thymus	Thymus
49	chr2:133038000-133039400	ZNF genes & repeats	Spleen	Spleen
50	chr2:133038200-133038400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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