Variant report

Variant	nsv1002172
Chromosome Location	chr2:50887608-50945788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:182)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:182 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:50919262-50919518	K562	blood:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
2	CEBPB	chr2:50890728-50891191	HepG2	liver:	n/a	chr2:50890749-50890760 chr2:50891044-50891055
3	CEBPB	chr2:50919242-50919552	HepG2	liver:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
4	CEBPB	chr2:50919241-50919557	IMR90	lung:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
5	CTCF	chr2:50902128-50902354	IMR90	lung:	n/a	n/a
6	CTCF	chr2:50902100-50902250	BE2_C	brain:	n/a	n/a
7	CTCF	chr2:50902140-50902290	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr2:50902119-50902292	GM19240	blood:	n/a	n/a
9	CTCF	chr2:50902200-50902350	GM12869	blood:	n/a	n/a
10	CTCF	chr2:50902091-50902331	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr2:50902100-50902250	HepG2	liver:	n/a	n/a
12	CTCF	chr2:50902140-50902290	GM12865	blood:	n/a	n/a
13	CTCF	chr2:50902060-50902290	GM12864	blood:	n/a	n/a
14	CTCF	chr2:50889589-50889673	MCF-7	breast:	n/a	n/a
15	CTCF	chr2:50902013-50902311	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr2:50902080-50902230	HL-60	blood:	n/a	n/a
17	CTCF	chr2:50902100-50902250	GM12870	blood:	n/a	n/a
18	CTCF	chr2:50889610-50889663	GM12891	blood:	n/a	n/a
19	CTCF	chr2:50902124-50902313	A549	lung:	n/a	n/a
20	CTCF	chr2:50902145-50902298	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:50889585-50889672	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:50902120-50902270	GM12878	blood:	n/a	n/a
23	CTCF	chr2:50902080-50902230	GM12875	blood:	n/a	n/a
24	CTCF	chr2:50902138-50902315	NHEK	skin:	n/a	n/a
25	CTCF	chr2:50902180-50902330	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr2:50902200-50902350	HCFaa	heart:	n/a	n/a
27	CTCF	chr2:50902100-50902250	GM12874	blood:	n/a	n/a
28	CTCF	chr2:50889588-50889678	GM19239	blood:	n/a	n/a
29	CTCF	chr2:50902140-50902290	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr2:50902140-50902290	NB4	blood:	n/a	n/a
31	CTCF	chr2:50902035-50902240	K562	blood:	n/a	n/a
32	CTCF	chr2:50902120-50902270	GM12866	blood:	n/a	n/a
33	CTCF	chr2:50902106-50902258	A549	lung:	n/a	n/a
34	CTCF	chr2:50902120-50902270	HMEC	breast:	n/a	n/a
35	CTCF	chr2:50902100-50902250	HMF	breast:	n/a	n/a
36	CTCF	chr2:50902220-50902370	A549	lung:	n/a	n/a
37	CTCF	chr2:50902120-50902270	GM12874	blood:	n/a	n/a
38	CTCF	chr2:50902180-50902330	GM12878	blood:	n/a	n/a
39	CTCF	chr2:50902180-50902330	GM12871	blood:	n/a	n/a
40	CTCF	chr2:50902100-50902250	GM12865	blood:	n/a	n/a
41	CTCF	chr2:50902139-50902314	GM12891	blood:	n/a	n/a
42	CTCF	chr2:50902182-50902235	LNCaP	prostate:	n/a	n/a
43	CTCF	chr2:50902146-50902299	GM19238	blood:	n/a	n/a
44	CTCF	chr2:50902120-50902270	HepG2	liver:	n/a	n/a
45	CTCF	chr2:50902170-50902253	MCF-7	breast:	n/a	n/a
46	CTCF	chr2:50902154-50902311	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr2:50902156-50902295	GM19239	blood:	n/a	n/a
48	CTCF	chr2:50902100-50902250	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr2:50889603-50889665	GM19240	blood:	n/a	n/a
50	CTCF	chr2:50902100-50902250	SAEC	small airway:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:50883231..50884999-chr2:50887642..50889397,2	MCF-7	breast:
2	chr2:50909775..50912434-chr2:50920496..50923402,2	MCF-7	breast:
3	chr2:50884335..50886694-chr2:50887318..50889235,3	K562	blood:
4	chr2:50884111..50885778-chr2:50886770..50888521,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000216191	TF binding region
NRXN1	TF binding region
ENSG00000216191	chromatin interactions
ENSG00000179915	chromatin interactions

Extended variants
information (count: 1975 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1975 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528006463	chr2:50887608-50887609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138785893	chr2:50887620-50887621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372208931	chr2:50887632-50887633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539096265	chr2:50887640-50887641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181837075	chr2:50887670-50887671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575851751	chr2:50887680-50887681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs79617624	chr2:50887692-50887693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571328714	chr2:50887742-50887743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112319297	chr2:50887791-50887792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553753553	chr2:50887817-50887818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs72837009	chr2:50887820-50887821	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs536174758	chr2:50887823-50887824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs74798611	chr2:50887843-50887844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115449186	chr2:50887890-50887891	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543201537	chr2:50887907-50887908	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34517739	chr2:50887920-50887921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150388714	chr2:50887930-50887931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs578050563	chr2:50887964-50887965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113942903	chr2:50887975-50887976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111777396	chr2:50887982-50887983	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527666277	chr2:50888012-50888013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375220430	chr2:50888033-50888034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543391957	chr2:50888041-50888042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561560929	chr2:50888152-50888153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189262961	chr2:50888180-50888181	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76448931	chr2:50888183-50888184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571722540	chr2:50888198-50888199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181337131	chr2:50888211-50888212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs547159851	chr2:50888214-50888215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10548003	chr2:50888225-50888226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs67243099	chr2:50888226-50888227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs398060177	chr2:50888234-50888235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9284753	chr2:50888249-50888250	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530175817	chr2:50888261-50888262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535841347	chr2:50888285-50888286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554482706	chr2:50888374-50888375	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs572233886	chr2:50888395-50888396	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs72837010	chr2:50888424-50888425	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536896537	chr2:50888435-50888436	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs149566547	chr2:50888463-50888464	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs534249991	chr2:50888468-50888469	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs146051311	chr2:50888476-50888477	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140078486	chr2:50888526-50888527	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs553974484	chr2:50888527-50888528	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375721661	chr2:50888547-50888548	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs141998530	chr2:50888572-50888573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs13407336	chr2:50888614-50888615	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs532763091	chr2:50888620-50888621	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs13407347	chr2:50888636-50888637	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572516485	chr2:50888648-50888649	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Acute myeloid leukemia	20729466	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50879800-50888600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:50885000-50888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:50885200-50888400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:50886200-50888600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:50886400-50890400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:50886800-50890600	Weak transcription	NHEK	skin
7	chr2:50888400-50890800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:50888600-50889200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:50888600-50889400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:50888600-50889600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:50888600-50890400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:50889000-50889200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:50889000-50889400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:50889400-50890800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:50890400-50890800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:50890400-50899200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:50890600-50891400	Enhancers	NHEK	skin
18	chr2:50890800-50891000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:50890800-50895000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:50894800-50895800	Enhancers	Brain Angular Gyrus	brain
21	chr2:50895000-50895200	Enhancers	Brain Germinal Matrix	brain
22	chr2:50895000-50895600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:50895000-50895800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:50895200-50896200	Enhancers	Brain Substantia Nigra	brain
25	chr2:50895600-50896000	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:50895800-50896000	Enhancers	Brain Germinal Matrix	brain
27	chr2:50896000-50896400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:50899200-50899600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:50899200-50899800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:50899600-50899800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:50904200-50904600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:50905400-50905800	Enhancers	Brain Hippocampus Middle	brain
33	chr2:50905600-50906200	Enhancers	Brain Anterior Caudate	brain
34	chr2:50905800-50906200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr2:50913400-50914000	Enhancers	Brain Angular Gyrus	brain
36	chr2:50913400-50914600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:50913600-50914800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:50913600-50916000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:50913600-50916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr2:50913800-50915800	Enhancers	Brain Anterior Caudate	brain
41	chr2:50913800-50916200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:50914000-50914200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:50914000-50914200	Enhancers	Brain Cingulate Gyrus	brain
44	chr2:50914000-50914400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:50914000-50917800	Weak transcription	Brain Angular Gyrus	brain
46	chr2:50914200-50915200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:50914200-50916000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:50914200-50918600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:50914400-50918400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:50914600-50914800	Enhancers	H9 Cell Line	embryonic stem cell

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