Variant report

Variant	nsv979072
Chromosome Location	chr2:99613444-99652736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99630915..99633529-chr2:99638709..99640411,2	MCF-7	breast:
2	chr2:99651571..99653300-chr2:99794305..99796617,2	K562	blood:
3	chr2:99345574..99348199-chr2:99652477..99654603,2	MCF-7	breast:
4	chr2:99633286..99635570-chr2:99636929..99639924,2	K562	blood:
5	chr2:99633286..99635570-chr2:99636929..99639924,2	K562	blood:
6	chr2:99630915..99633529-chr2:99638709..99640411,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071073	chromatin interactions
ENSG00000158411	chromatin interactions

Extended variants
information (count: 904 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140431665	chr2:99617220-99617221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577802110	chr2:99617294-99617295	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183883672	chr2:99617301-99617302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543229284	chr2:99617354-99617355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs563443438	chr2:99617360-99617361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs114253276	chr2:99617406-99617407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs57765663	chr2:99617444-99617445	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539278789	chr2:99617472-99617473	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs528065624	chr2:99617476-99617477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs564134906	chr2:99617501-99617502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs551360008	chr2:99617578-99617579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs6542852	chr2:99617592-99617593	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs550893694	chr2:99617594-99617595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs562924181	chr2:99625605-99625606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368677478	chr2:99625659-99625660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568877794	chr2:99625660-99625661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537210657	chr2:99625696-99625697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190388686	chr2:99625713-99625714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34280565	chr2:99625724-99625725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371975321	chr2:99625822-99625823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559926047	chr2:99625830-99625831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567547750	chr2:99625844-99625845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555545105	chr2:99625851-99625852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74773747	chr2:99625863-99625864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34306767	chr2:99625892-99625893	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs553424935	chr2:99625928-99625929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566498501	chr2:99625966-99625967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374815578	chr2:99625989-99625990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558343137	chr2:99625990-99625991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6734832	chr2:99625992-99625993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538671455	chr2:99626020-99626021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373792854	chr2:99626035-99626036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537433846	chr2:99626067-99626068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554884944	chr2:99626080-99626081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574789135	chr2:99626086-99626087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540523091	chr2:99626088-99626089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188404745	chr2:99626186-99626187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145840043	chr2:99626213-99626214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191087814	chr2:99626245-99626246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149008974	chr2:99626250-99626251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531772425	chr2:99626316-99626317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs114240071	chr2:99626413-99626414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143757569	chr2:99626443-99626444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71413814	chr2:99626452-99626453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561053174	chr2:99626478-99626479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7571390	chr2:99626593-99626594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs183028908	chr2:99626648-99626649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187566121	chr2:99626685-99626686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7588059	chr2:99626704-99626705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs151097893	chr2:99626710-99626711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99617200-99617600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:99625600-99628600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:99625600-99628800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:99627400-99627600	ZNF genes & repeats	Pancreas	Pancrea
5	chr2:99627600-99658800	Weak transcription	Pancreas	Pancrea
6	chr2:99633400-99634600	Weak transcription	Ovary	ovary
7	chr2:99634600-99634800	ZNF genes & repeats	Ovary	ovary
8	chr2:99637800-99649000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:99645000-99645200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:99648000-99648400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:99648600-99650000	Enhancers	HMEC	breast
12	chr2:99649000-99649800	Enhancers	NHEK	skin
13	chr2:99649000-99650000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:99649200-99649800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:99650000-99656800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:99651000-99651600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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