Variant report

Variant	nsv821822
Chromosome Location	chr2:179296114-179296951
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179290293..179297501-chr2:179307356..179318778,14	K562	blood:
2	chr2:179290672..179296705-chr2:179311873..179319969,11	K562	blood:
3	chr2:179285238..179287565-chr2:179296819..179299429,2	K562	blood:
4	chr2:179291608..179296531-chr2:179313533..179317372,6	MCF-7	breast:
5	chr2:179296734..179298394-chr2:179344254..179346093,2	K562	blood:
6	chr2:179289800..179292691-chr2:179294901..179296812,2	MCF-7	breast:
7	chr2:179293591..179296223-chr2:179303267..179306036,4	K562	blood:
8	chr2:179295469..179297906-chr2:179298991..179302357,3	K562	blood:
9	chr2:179293578..179297906-chr2:179298629..179301854,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OSBPL6-2	chr2:179296897-179297009	ENSG00000223960

No data

Variant related genes	Relation type
ENSG00000238082	chromatin interactions
ENSG00000204311	chromatin interactions
ENSG00000116095	chromatin interactions
ENSG00000180228	chromatin interactions
HAUS6	miRNA target sites

Extended variants
information (count: 39 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59951402	chr2:179296125-179296126	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs397966997	chr2:179296126-179296127	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs13407427	chr2:179296162-179296163	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs4533501	chr2:179296169-179296170	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs560470183	chr2:179296240-179296241	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs145339215	chr2:179296248-179296249	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs372141146	chr2:179296249-179296250	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs57521254	chr2:179296252-179296253	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs9283487	chr2:179296271-179296272	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	disease
10	rs532321242	chr2:179296312-179296313	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs532173125	chr2:179296382-179296383	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs549273782	chr2:179296388-179296389	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs575463864	chr2:179296489-179296490	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs552380814	chr2:179296494-179296495	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs562577777	chr2:179296508-179296509	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs113260132	chr2:179296510-179296511	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs3997879	chr2:179296511-179296512	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
18	rs545970510	chr2:179296536-179296537	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs531361028	chr2:179296541-179296542	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs374238308	chr2:179296597-179296598	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs141995027	chr2:179296624-179296625	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs3997878	chr2:179296626-179296627	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
23	rs568396106	chr2:179296635-179296636	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs189758246	chr2:179296637-179296638	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs115244185	chr2:179296665-179296666	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs3997877	chr2:179296666-179296667	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs9678538	chr2:179296706-179296707	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547655734	chr2:179296709-179296710	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs570787177	chr2:179296711-179296712	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs9678530	chr2:179296745-179296746	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs372585947	chr2:179296793-179296794	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs550622280	chr2:179296813-179296814	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs576603385	chr2:179296816-179296817	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs3997876	chr2:179296821-179296822	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375307882	chr2:179296880-179296881	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs138584387	chr2:179296887-179296888	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs537898766	chr2:179296896-179296897	Strong transcription Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs116833881	chr2:179296905-179296906	Strong transcription Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs199725025	chr2:179296915-179296916	Strong transcription Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Acute myeloid leukemia	20729466	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
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	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179278800-179298800	Weak transcription	Small Intestine	intestine
2	chr2:179279600-179298800	Weak transcription	Colonic Mucosa	Colon
3	chr2:179279800-179299200	Weak transcription	Esophagus	oesophagus
4	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
5	chr2:179280000-179296800	Weak transcription	NHLF	lung
6	chr2:179280000-179297600	Weak transcription	Hela-S3	cervix
7	chr2:179280000-179298400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:179280000-179305200	Weak transcription	Fetal Brain Male	brain
9	chr2:179280000-179310600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:179280200-179296600	Weak transcription	Fetal Kidney	kidney
11	chr2:179280200-179314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:179290200-179312800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:179290400-179296600	Weak transcription	Psoas Muscle	Psoas
14	chr2:179290600-179296400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr2:179290800-179312000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:179290800-179312600	Strong transcription	Dnd41	blood
17	chr2:179291000-179300600	Strong transcription	Thymus	Thymus
18	chr2:179291000-179300800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr2:179291000-179311600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:179291000-179313200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:179291000-179313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:179291000-179313600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr2:179291200-179296400	Strong transcription	Fetal Stomach	stomach
24	chr2:179291200-179298400	Weak transcription	Fetal Intestine Small	intestine
25	chr2:179291200-179299600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:179291200-179300600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr2:179291200-179300600	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:179291200-179300600	Strong transcription	Left Ventricle	heart
29	chr2:179291200-179301200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:179291200-179303200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:179291200-179303200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:179291200-179303800	Strong transcription	Primary T cells from cord blood	blood
33	chr2:179291200-179306200	Strong transcription	Fetal Brain Female	brain
34	chr2:179291200-179310400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:179291200-179312200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:179291200-179312800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:179291200-179312800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:179291200-179312800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:179291200-179313600	Strong transcription	Fetal Thymus	thymus
40	chr2:179291200-179313800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:179291400-179296200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:179291400-179300800	Strong transcription	Brain Germinal Matrix	brain
43	chr2:179291400-179303000	Strong transcription	A549	lung
44	chr2:179291400-179311400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:179291400-179312600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:179291400-179312800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:179291400-179313400	Strong transcription	HSMM	muscle
48	chr2:179291400-179313600	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:179291600-179296400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr2:179291600-179297200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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