Variant report

Variant	nsv3033
Chromosome Location	chr2:173063284-173108586
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173088875..173091525-chr2:173092541..173095175,2	K562	blood:
2	chr2:173088875..173091525-chr2:173092541..173095175,2	K562	blood:
3	chr2:173089711..173092509-chr2:173097012..173099107,3	MCF-7	breast:
4	chr2:173095341..173097965-chr2:173100051..173102340,2	MCF-7	breast:
5	chr2:173072751..173074483-chr2:173077609..173079587,2	K562	blood:
6	chr2:173089842..173092566-chr2:173098628..173101513,3	MCF-7	breast:
7	chr2:173072751..173074483-chr2:173077609..173079587,2	K562	blood:
8	chr2:173036862..173038555-chr2:173090305..173091655,7	MCF-7	breast:
9	chr2:173096528..173098300-chr2:173101547..173103851,2	K562	blood:
10	chr2:173066119..173066645-chr2:173326492..173327358,2	MCF-7	breast:
11	chr2:173070300..173072714-chr2:173083425..173085764,2	MCF-7	breast:
12	chr2:173074149..173078197-chr2:173078477..173081943,3	K562	blood:
13	chr2:173064653..173066712-chr2:173068939..173071306,2	MCF-7	breast:
14	chr2:173044550..173046275-chr2:173093097..173095044,2	MCF-7	breast:
15	chr2:173078822..173080998-chr2:173095449..173097049,2	MCF-7	breast:
16	chr2:173107402..173109527-chr2:173117280..173119825,2	MCF-7	breast:
17	chr2:173089711..173092509-chr2:173097012..173099107,3	MCF-7	breast:
18	chr2:173095341..173097965-chr2:173100051..173102340,2	MCF-7	breast:
19	chr2:173082820..173084740-chr2:173087213..173089169,2	MCF-7	breast:
20	chr2:173089842..173092566-chr2:173098628..173101513,3	MCF-7	breast:
21	chr2:173092158..173092922-chr2:173138874..173139441,2	MCF-7	breast:
22	chr2:173100897..173103000-chr2:173216742..173218370,2	MCF-7	breast:
23	chr2:173064966..173065861-chr2:173326898..173327413,2	K562	blood:
24	chr2:173082820..173084740-chr2:173087213..173089169,2	MCF-7	breast:
25	chr2:173082842..173085574-chr2:173086283..173088823,2	K562	blood:
26	chr2:173082842..173085574-chr2:173086283..173088823,2	K562	blood:
27	chr2:173096528..173098300-chr2:173101547..173103851,2	K562	blood:
28	chr2:172668541..172671222-chr2:173069188..173070734,2	MCF-7	breast:
29	chr2:173070300..173072714-chr2:173083425..173085764,2	MCF-7	breast:
30	chr2:173099958..173103165-chr2:173109805..173112052,3	K562	blood:
31	chr2:173064653..173066712-chr2:173068939..173071306,2	MCF-7	breast:
32	chr2:173061279..173063058-chr2:173066457..173068997,2	K562	blood:
33	chr2:173074149..173078197-chr2:173078477..173081943,3	K562	blood:
34	chr2:173078822..173080998-chr2:173095449..173097049,2	MCF-7	breast:
35	chr2:173106725..173108698-chr2:173113644..173117246,3	K562	blood:

No data

Extended variants
information (count: 1704 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:1704 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189060286	chr2:173063323-173063324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529551972	chr2:173063385-173063386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536096208	chr2:173063392-173063393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546637853	chr2:173063406-173063407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113665236	chr2:173063407-173063408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376279812	chr2:173063408-173063409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373525932	chr2:173063410-173063411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140402851	chr2:173063418-173063419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6720217	chr2:173063489-173063490	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs10713912	chr2:173063561-173063562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76219996	chr2:173063570-173063571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372838218	chr2:173063588-173063589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6720539	chr2:173063608-173063609	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540718623	chr2:173063632-173063633	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532870045	chr2:173063648-173063649	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs6751665	chr2:173063731-173063732	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534589482	chr2:173063767-173063768	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs6723339	chr2:173063782-173063783	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577647496	chr2:173063817-173063818	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs190856972	chr2:173063922-173063923	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs6723670	chr2:173063931-173063932	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562764102	chr2:173063974-173063975	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs144011247	chr2:173063990-173063991	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs369346154	chr2:173063998-173063999	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548277595	chr2:173064035-173064036	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs561246033	chr2:173064039-173064040	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs180900120	chr2:173064074-173064075	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs551667230	chr2:173064114-173064115	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76820378	chr2:173064165-173064166	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs532602404	chr2:173064224-173064225	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs550804034	chr2:173064348-173064349	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs140934186	chr2:173064382-173064383	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs530615624	chr2:173064386-173064387	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs4359606	chr2:173064393-173064394	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567551954	chr2:173064403-173064404	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs186378296	chr2:173064404-173064405	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs4347787	chr2:173064428-173064429	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs4335914	chr2:173064435-173064436	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567279124	chr2:173064450-173064451	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs556785842	chr2:173064463-173064464	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs143318336	chr2:173064504-173064505	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs191274076	chr2:173064505-173064506	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs182778897	chr2:173064569-173064570	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573169673	chr2:173064574-173064575	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs376451277	chr2:173064578-173064579	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs540538398	chr2:173064579-173064580	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs376968077	chr2:173064595-173064596	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs187470329	chr2:173064611-173064612	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544639991	chr2:173064625-173064626	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562832550	chr2:173064677-173064678	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Cancer	20164919	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
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1128 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173060600-173063800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr2:173060600-173064400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:173060600-173064400	Enhancers	Fetal Thymus	thymus
4	chr2:173061600-173064400	Enhancers	HMEC	breast
5	chr2:173062000-173063400	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:173062000-173065200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:173062200-173063600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:173062200-173063800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:173062200-173064400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:173062200-173064400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:173062200-173064800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:173062400-173063400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:173062400-173064200	Enhancers	NHEK	skin
14	chr2:173062600-173063800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:173062600-173064400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:173063200-173063800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:173063400-173063800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:173063600-173064000	Enhancers	Primary B cells from cord blood	blood
19	chr2:173063600-173064000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:173063800-173064000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:173063800-173064200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr2:173063800-173064600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:173064200-173064600	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr2:173064200-173064800	Weak transcription	NHEK	skin
25	chr2:173064400-173064800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:173064400-173064800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr2:173064400-173065000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:173064600-173064800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr2:173064600-173065000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr2:173064800-173065200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:173064800-173065200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr2:173064800-173065400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
33	chr2:173064800-173065400	ZNF genes & repeats	NHEK	skin
34	chr2:173065000-173065200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:173065000-173065200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr2:173065000-173065200	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr2:173065000-173065600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr2:173065200-173066400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:173065200-173069000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:173065200-173069000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr2:173065400-173067000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:173065400-173069000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr2:173065400-173072600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:173065400-173073600	Weak transcription	NHEK	skin
45	chr2:173065600-173066000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:173068800-173070000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr2:173069000-173069400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:173069000-173069600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:173069000-173070000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:173069000-173070200	Enhancers	Primary monocytes fromperipheralblood	blood

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