Variant report

Variant	nsv963924
Chromosome Location	chr2:116110836-116134022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 907 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:907 , 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	rs140021822	chr2:116110852-116110853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149663968	chr2:116110944-116110945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575723129	chr2:116110960-116110961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528074004	chr2:116111003-116111004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541587356	chr2:116111068-116111069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561793756	chr2:116111119-116111120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530329382	chr2:116111140-116111141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550352571	chr2:116111157-116111158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570260159	chr2:116111183-116111184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532897384	chr2:116111204-116111205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567167607	chr2:116111209-116111210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565970893	chr2:116111219-116111220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184898748	chr2:116111223-116111224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569273564	chr2:116111367-116111368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116038294	chr2:116111390-116111391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568173313	chr2:116111430-116111431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536850267	chr2:116111431-116111432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556782309	chr2:116111457-116111458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373422766	chr2:116111468-116111469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11674259	chr2:116111503-116111504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369774250	chr2:116111539-116111540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553208715	chr2:116111570-116111571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11674301	chr2:116111597-116111598	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs541769829	chr2:116111613-116111614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs3930621	chr2:116111717-116111718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188296736	chr2:116111731-116111732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180710321	chr2:116111746-116111747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7558115	chr2:116111759-116111760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563908991	chr2:116111763-116111764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532733445	chr2:116111826-116111827	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs186406775	chr2:116111872-116111873	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs7561031	chr2:116111920-116111921	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189733556	chr2:116111933-116111934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs559321206	chr2:116112109-116112110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs548515600	chr2:116112144-116112145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs568108227	chr2:116112175-116112176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs141182612	chr2:116112195-116112196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs181203322	chr2:116112211-116112212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570339993	chr2:116112222-116112223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539590409	chr2:116112240-116112241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553007203	chr2:116112258-116112259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146959875	chr2:116112268-116112269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375463199	chr2:116112289-116112290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535384266	chr2:116112294-116112295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186007983	chr2:116112358-116112359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575297484	chr2:116112435-116112436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200671442	chr2:116112462-116112463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4268936	chr2:116112475-116112476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564145808	chr2:116112494-116112495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577530715	chr2:116112519-116112520	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	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
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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17621639	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116105200-116114800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:116108800-116114400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:116111800-116112200	ZNF genes & repeats	Fetal Brain Male	brain
4	chr2:116114400-116115600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr2:116114400-116115600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:116114400-116115800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr2:116114400-116116800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:116114600-116115400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr2:116114800-116115600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:116114800-116115800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr2:116115000-116115600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:116115000-116115600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr2:116115000-116116800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr2:116115600-116117600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:116115600-116118400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:116115600-116118600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:116115600-116120200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:116115600-116120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:116115800-116116200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr2:116115800-116117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:116116200-116116600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:116116400-116116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:116116400-116117000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:116116600-116116800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:116116800-116117400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:116116800-116120400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:116116800-116121000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:116116800-116121200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:116117000-116118400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:116117600-116118000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:116117600-116118200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:116117600-116118600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:116117800-116118400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:116118000-116118800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:116118000-116121800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:116118200-116120600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:116118400-116118800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:116118400-116121000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:116118400-116121000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:116118600-116118800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:116118600-116119400	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr2:116118600-116120800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:116118800-116121600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:116118800-116121800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:116119000-116131800	Weak transcription	Pancreas	Pancrea
46	chr2:116119800-116121400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:116120200-116123200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:116120400-116121200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr2:116120600-116121800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:116120600-116122800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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