Variant report

Variant	nsv869674
Chromosome Location	chr2:182409485-182468632
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:30)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182438221..182439821-chr2:182994144..182995776,2	MCF-7	breast:
2	chr2:182441757..182445548-chr2:182446520..182448681,3	MCF-7	breast:
3	chr2:182439991..182442513-chr2:182444114..182446630,2	K562	blood:
4	chr2:182445987..182446909-chr2:182579789..182580373,5	MCF-7	breast:
5	chr2:182441757..182445548-chr2:182446520..182448681,3	MCF-7	breast:
6	chr2:182410570..182412601-chr2:182415829..182418242,3	MCF-7	breast:
7	chr2:182423046..182424960-chr2:182435920..182438650,2	MCF-7	breast:
8	chr2:182314915..182317774-chr2:182409539..182411527,2	MCF-7	breast:
9	chr2:182437634..182438710-chr2:182579545..182580285,4	MCF-7	breast:
10	chr2:182437312..182438577-chr2:182579429..182580533,7	MCF-7	breast:
11	chr12:71550564..71551399-chr2:182446002..182446743,2	MCF-7	breast:
12	chr2:182451380..182454300-chr2:182456177..182458633,2	MCF-7	breast:
13	chr2:182435349..182437630-chr2:182555564..182558496,2	MCF-7	breast:
14	chr2:182451380..182454300-chr2:182456177..182458633,2	MCF-7	breast:
15	chr2:182404574..182407560-chr2:182408390..182411205,2	MCF-7	breast:
16	chr2:182443962..182446656-chr2:182467711..182470400,2	K562	blood:
17	chr2:182409705..182411918-chr2:182416700..182419785,3	MCF-7	breast:
18	chr2:182443962..182446656-chr2:182467711..182470400,2	K562	blood:
19	chr2:182423046..182424960-chr2:182435920..182438650,2	MCF-7	breast:
20	chr2:182409705..182411918-chr2:182416700..182419785,3	MCF-7	breast:
21	chr2:182439991..182442513-chr2:182444114..182446630,2	K562	blood:
22	chr2:182445843..182446531-chr2:182579400..182580430,3	MCF-7	breast:
23	chr2:182437539..182438523-chr2:182997112..182997742,2	MCF-7	breast:
24	chr2:182433201..182435879-chr2:182443197..182446025,2	MCF-7	breast:
25	chr2:182456084..182458105-chr2:182466786..182469435,2	MCF-7	breast:
26	chr2:182410570..182412601-chr2:182415829..182418242,3	MCF-7	breast:
27	chr2:182456084..182458105-chr2:182466786..182469435,2	MCF-7	breast:
28	chr2:182433201..182435879-chr2:182443197..182446025,2	MCF-7	breast:
29	chr2:182435945..182437023-chr2:182579777..182580483,3	MCF-7	breast:
30	chr2:182435993..182437913-chr2:182941874..182944378,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA4-4	chr2:182465963-182466298	expReg_chr2_14255_+
2	lnc-ITGA4-3	chr2:182465633-182465899	expReg_chr2_14254_+

No data

Variant related genes	Relation type
ENSG00000225570	chromatin interactions

Extended variants
information (count: 1840 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:1840 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148507801	chr2:182409488-182409489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34150300	chr2:182409501-182409502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539773990	chr2:182409511-182409512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556405190	chr2:182409512-182409513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79592949	chr2:182409548-182409549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34936253	chr2:182409581-182409582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186404709	chr2:182409594-182409595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376325325	chr2:182409600-182409601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576142350	chr2:182409659-182409660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370710013	chr2:182409765-182409766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189624891	chr2:182409793-182409794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182276065	chr2:182409794-182409795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372468555	chr2:182409809-182409810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564728261	chr2:182409864-182409865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187850068	chr2:182409993-182409994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543375793	chr2:182410085-182410086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563252582	chr2:182410124-182410125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528965757	chr2:182410183-182410184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548814763	chr2:182410196-182410197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191461508	chr2:182410272-182410273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145495737	chr2:182410299-182410300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553586564	chr2:182410330-182410331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551268769	chr2:182410333-182410334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200394510	chr2:182410342-182410343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs58018201	chr2:182410349-182410350	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147693569	chr2:182410361-182410362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556507020	chr2:182410364-182410365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377304048	chr2:182410415-182410416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570081293	chr2:182410451-182410452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533920832	chr2:182410465-182410466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183240377	chr2:182410507-182410508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572687740	chr2:182410519-182410520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142493171	chr2:182410560-182410561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115504159	chr2:182410567-182410568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578169211	chr2:182410666-182410667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578076180	chr2:182410781-182410782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188660208	chr2:182410801-182410802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573697503	chr2:182410805-182410806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542326217	chr2:182410806-182410807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558979251	chr2:182410889-182410890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74890704	chr2:182410914-182410915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13405809	chr2:182410923-182410924	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530814248	chr2:182410926-182410927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549952530	chr2:182410961-182410962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34788048	chr2:182411025-182411026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192324881	chr2:182411106-182411107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540831133	chr2:182411109-182411110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570021729	chr2:182411185-182411186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535805131	chr2:182411201-182411202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184862946	chr2:182411247-182411248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
Mental retardation	21062444	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
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182324400-182410400	Weak transcription	NHLF	lung
2	chr2:182389200-182410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:182389200-182410200	Weak transcription	HMEC	breast
4	chr2:182392600-182410200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:182396200-182410400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:182400600-182411000	Weak transcription	NH-A	brain
7	chr2:182401400-182417600	Weak transcription	NHDF-Ad	bronchial
8	chr2:182402800-182414600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:182405600-182413800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:182405600-182414600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:182405600-182415200	Weak transcription	Dnd41	blood
12	chr2:182405800-182410000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:182406000-182415400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:182406200-182411000	Weak transcription	HSMMtube	muscle
15	chr2:182406200-182414600	Weak transcription	Thymus	Thymus
16	chr2:182406200-182414600	Weak transcription	GM12878-XiMat	blood
17	chr2:182406400-182415000	Weak transcription	Primary T cells from cord blood	blood
18	chr2:182406600-182410000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:182406800-182415400	Weak transcription	Primary B cells from cord blood	blood
20	chr2:182406800-182418200	Weak transcription	Fetal Thymus	thymus
21	chr2:182410000-182410800	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr2:182410000-182411200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:182410000-182411600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:182410200-182411200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:182410200-182411200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:182410200-182411200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:182410200-182411200	Enhancers	HMEC	breast
28	chr2:182410400-182411000	Enhancers	NHLF	lung
29	chr2:182410400-182411200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:182410400-182411200	Enhancers	NHEK	skin
31	chr2:182410400-182411200	Enhancers	Osteobl	bone
32	chr2:182410800-182419200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:182411000-182411200	Enhancers	HSMMtube	muscle
34	chr2:182411000-182411200	Enhancers	NH-A	brain
35	chr2:182411200-182412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:182411200-182416800	Weak transcription	HMEC	breast
37	chr2:182411200-182417000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:182411200-182417000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:182415800-182416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:182416800-182418400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:182416800-182419600	Enhancers	HMEC	breast
42	chr2:182417000-182417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:182417000-182418200	Enhancers	NHEK	skin
44	chr2:182417000-182419400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:182417200-182417600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:182417200-182417800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:182417600-182417800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:182417600-182418000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:182417600-182418200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:182417600-182418400	Enhancers	NHDF-Ad	bronchial

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