Variant report

Variant	nsv1014434
Chromosome Location	chr2:49016279-49053699
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:49009264..49012975-chr2:49015723..49017934,3	K562	blood:
2	chr2:49022010..49024033-chr2:49025700..49028628,2	MCF-7	breast:
3	chr2:49009264..49011801-chr2:49015723..49017934,2	K562	blood:
4	chr2:49013902..49015709-chr2:49018982..49021031,2	MCF-7	breast:
5	chr2:49022010..49024033-chr2:49025700..49028628,2	MCF-7	breast:
6	chr2:49001281..49003714-chr2:49013829..49016593,2	MCF-7	breast:
7	chr2:48996460..48999048-chr2:49041792..49043593,2	MCF-7	breast:
8	chr2:49022703..49025373-chr2:49029077..49031757,2	K562	blood:
9	chr2:48974519..48977429-chr2:49021339..49023541,3	MCF-7	breast:
10	chr2:49011991..49014662-chr2:49016909..49018926,2	MCF-7	breast:
11	chr2:49022703..49025373-chr2:49029077..49031757,2	K562	blood:

No data

Extended variants
information (count: 1667 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1667 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10202815	chr2:49016279-49016280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs77662814	chr2:49016292-49016293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376285986	chr2:49016379-49016380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114995246	chr2:49016389-49016390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62135455	chr2:49016427-49016428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529810791	chr2:49016430-49016431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181338669	chr2:49016483-49016484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528575409	chr2:49016513-49016514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149271594	chr2:49016545-49016546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115499986	chr2:49016625-49016626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143533517	chr2:49016666-49016667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185990524	chr2:49016680-49016681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138051672	chr2:49016722-49016723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574969970	chr2:49016746-49016747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535925387	chr2:49016752-49016753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142594991	chr2:49016786-49016787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200403968	chr2:49016793-49016794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575583130	chr2:49016814-49016815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545884356	chr2:49016848-49016849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78768573	chr2:49016881-49016882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146026084	chr2:49016895-49016896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540793079	chr2:49016902-49016903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7589251	chr2:49016904-49016905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139993164	chr2:49016913-49016914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141414084	chr2:49016931-49016932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563248643	chr2:49016935-49016936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530478309	chr2:49016936-49016937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376273798	chr2:49017028-49017029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190562872	chr2:49017053-49017054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543344375	chr2:49017078-49017079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552225795	chr2:49017121-49017122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183163756	chr2:49017122-49017123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375981040	chr2:49017176-49017177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547347797	chr2:49017220-49017221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568639159	chr2:49017259-49017260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535713065	chr2:49017311-49017312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557382401	chr2:49017430-49017431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187872724	chr2:49017478-49017479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370627866	chr2:49017484-49017485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568350368	chr2:49017486-49017487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191036997	chr2:49017512-49017513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370051024	chr2:49017555-49017556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557743317	chr2:49017576-49017577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572934820	chr2:49017659-49017660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182638230	chr2:49017663-49017664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187644690	chr2:49017677-49017678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116556184	chr2:49017678-49017679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62135456	chr2:49017684-49017685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150825724	chr2:49017710-49017711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139284096	chr2:49017722-49017723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48994600-49080200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:49013200-49017800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:49017400-49018800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:49017400-49019000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:49017400-49019400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:49017400-49020000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:49017400-49020600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:49017600-49018800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:49017600-49019000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:49017600-49020400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:49017800-49018200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:49017800-49018200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:49017800-49019800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:49017800-49020800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:49017800-49020800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr2:49018000-49019600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:49018200-49018400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:49018200-49027000	Weak transcription	Right Atrium	heart
19	chr2:49018400-49018800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:49018400-49019800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:49018600-49019800	Enhancers	Fetal Brain Male	brain
22	chr2:49018800-49020200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:49019000-49020200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:49019400-49020600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:49020200-49020800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:49020400-49020600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:49020600-49020800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:49025800-49027600	Enhancers	Fetal Intestine Large	intestine
29	chr2:49026200-49026600	Enhancers	Ovary	ovary
30	chr2:49026200-49027600	Enhancers	Fetal Intestine Small	intestine
31	chr2:49026600-49027000	Weak transcription	Ovary	ovary
32	chr2:49026800-49027200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr2:49027000-49027200	Enhancers	Ovary	ovary
34	chr2:49027000-49027200	Enhancers	Pancreas	Pancrea
35	chr2:49027000-49027200	Enhancers	Right Atrium	heart
36	chr2:49027200-49028400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:49027200-49037000	Weak transcription	Ovary	ovary
38	chr2:49028400-49029400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:49032600-49032800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr2:49032600-49032800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:49032800-49039000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:49037000-49037200	Strong transcription	Ovary	ovary
43	chr2:49037200-49045400	Weak transcription	Ovary	ovary
44	chr2:49038600-49039800	Enhancers	Fetal Intestine Large	intestine
45	chr2:49039000-49040000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:49039200-49039800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr2:49039200-49039800	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr2:49039200-49040000	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:49039200-49040400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:49039400-49039600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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