Variant report

Variant	nsv979348
Chromosome Location	chr2:172057884-172068984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172065254..172067195-chr2:172089260..172091784,2	K562	blood:
2	chr2:172009844..172011801-chr2:172066208..172069012,2	K562	blood:
3	chr2:172067798..172069375-chr2:172288988..172290939,2	K562	blood:
4	chr2:172054543..172057052-chr2:172065152..172066694,2	K562	blood:
5	chr2:172064484..172066754-chr2:172100609..172102282,2	K562	blood:
6	chr2:172015930..172017600-chr2:172064388..172066439,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123600	chromatin interactions
ENSG00000115827	chromatin interactions
ENSG00000198586	chromatin interactions

Extended variants
information (count: 361 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556334299	chr2:172057904-172057905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188053667	chr2:172057911-172057912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536165028	chr2:172057933-172057934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554144543	chr2:172057966-172057967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193035278	chr2:172057976-172057977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539834229	chr2:172058026-172058027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565014631	chr2:172058075-172058076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183049159	chr2:172058132-172058133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544278545	chr2:172058155-172058156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115290744	chr2:172058230-172058231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146003362	chr2:172058265-172058266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548485333	chr2:172058270-172058271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368957313	chr2:172058295-172058296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533988855	chr2:172058312-172058313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187674763	chr2:172058313-172058314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192493734	chr2:172058356-172058357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552277380	chr2:172058359-172058360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116662740	chr2:172058365-172058366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3081728	chr2:172058409-172058410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537950981	chr2:172058448-172058449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397839116	chr2:172058449-172058450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34597505	chr2:172058452-172058453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34780836	chr2:172058454-172058455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58352209	chr2:172058455-172058456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369211474	chr2:172058459-172058460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553977103	chr2:172058485-172058486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549820963	chr2:172058505-172058506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371542307	chr2:172058565-172058566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568340612	chr2:172058566-172058567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34900003	chr2:172058568-172058569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535651850	chr2:172058677-172058678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567268864	chr2:172058687-172058688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554486886	chr2:172058691-172058692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373415960	chr2:172058692-172058693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139942161	chr2:172058693-172058694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113913255	chr2:172058732-172058733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558589952	chr2:172058735-172058736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576868826	chr2:172058741-172058742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536322363	chr2:172058763-172058764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562875513	chr2:172058771-172058772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189339566	chr2:172058789-172058790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556265333	chr2:172058790-172058791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574601530	chr2:172058818-172058819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555917084	chr2:172058819-172058820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372426558	chr2:172058820-172058821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530282409	chr2:172058822-172058823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545643943	chr2:172058852-172058853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192378574	chr2:172058854-172058855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531571824	chr2:172058878-172058879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549892653	chr2:172058894-172058895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172054600-172066200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:172058000-172058200	Enhancers	K562	blood
3	chr2:172058200-172063200	Weak transcription	K562	blood
4	chr2:172062000-172062400	Enhancers	HSMMtube	muscle
5	chr2:172063200-172063400	ZNF genes & repeats	K562	blood
6	chr2:172063400-172065000	Weak transcription	K562	blood
7	chr2:172063800-172065200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:172064000-172064200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:172064000-172064200	Enhancers	HSMMtube	muscle
10	chr2:172064400-172065400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:172064800-172067400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:172065000-172065600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:172065000-172065600	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:172065000-172065800	Enhancers	Dnd41	blood
15	chr2:172065000-172067200	Enhancers	K562	blood
16	chr2:172065200-172065400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr2:172065200-172065400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:172065200-172065400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:172065200-172065600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:172065200-172065600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:172065200-172065600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:172065200-172065600	Enhancers	Primary B cells from cord blood	blood
23	chr2:172065200-172065800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:172065400-172065600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:172065400-172065600	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr2:172065400-172065600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:172065400-172065800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:172065400-172065800	Enhancers	GM12878-XiMat	blood
29	chr2:172065400-172066800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:172065600-172066400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:172065600-172066400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:172065600-172066600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:172065600-172066800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:172065600-172066800	Weak transcription	Primary B cells from cord blood	blood
35	chr2:172065600-172066800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:172065600-172067000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr2:172065600-172067000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:172065600-172068800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:172065600-172069200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:172065800-172066800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:172065800-172067000	Weak transcription	Dnd41	blood
42	chr2:172065800-172067000	Weak transcription	GM12878-XiMat	blood
43	chr2:172065800-172067200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:172066200-172067800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:172066400-172067800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:172066400-172067800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:172066400-172068200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:172066600-172067200	Enhancers	Primary hematopoietic stem cells	blood
49	chr2:172066800-172067200	Enhancers	Primary T cells from cord blood	blood
50	chr2:172066800-172067200	Enhancers	Primary T cells fromperipheralblood	blood

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