Variant report

Variant	nsv1002948
Chromosome Location	chr2:49447212-49522898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:371)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:49467819-49468047	HepG2	liver:	n/a	n/a
2	BACH1	chr2:49478947-49479134	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr2:49456700-49457056	GM12878	blood:	n/a	n/a
4	BATF	chr2:49456588-49457058	GM12878	blood:	n/a	n/a
5	BCL11A	chr2:49456598-49457072	GM12878	blood:	n/a	n/a
6	BCL11A	chr2:49456707-49457049	GM12878	blood:	n/a	n/a
7	BCL3	chr2:49475653-49475916	GM12878	blood:	n/a	n/a
8	BHLHE40	chr2:49456686-49457070	HepG2	liver:	n/a	n/a
9	CEBPB	chr2:49468748-49469036	HepG2	liver:	n/a	chr2:49468909-49468922 chr2:49468909-49468920
10	CEBPB	chr2:49518899-49519016	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr2:49475649-49476007	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr2:49475560-49476060	A549	lung:	n/a	n/a
13	CEBPB	chr2:49478933-49479311	IMR90	lung:	n/a	n/a
14	CEBPB	chr2:49484910-49485040	HepG2	liver:	n/a	chr2:49484942-49484953
15	CEBPB	chr2:49468771-49469019	A549	lung:	n/a	chr2:49468909-49468922 chr2:49468909-49468920
16	CEBPB	chr2:49468706-49469063	IMR90	lung:	n/a	chr2:49468909-49468922 chr2:49468909-49468920
17	CEBPB	chr2:49475654-49475976	A549	lung:	n/a	n/a
18	CEBPB	chr2:49475637-49475993	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:49475606-49475954	A549	lung:	n/a	n/a
20	CEBPB	chr2:49475457-49476102	IMR90	lung:	n/a	n/a
21	CEBPD	chr2:49456704-49457038	K562	blood:	n/a	n/a
22	CHD2	chr2:49518905-49519021	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr2:49482560-49482710	HAc	cerebellar:	n/a	chr2:49482619-49482640
24	CTCF	chr2:49482780-49482930	HAc	cerebellar:	n/a	n/a
25	CTCF	chr2:49449540-49449690	GM06990	blood:	n/a	n/a
26	CTCF	chr2:49518080-49518230	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr2:49482600-49482750	HRPEpiC	eye:	n/a	chr2:49482619-49482640
28	CTCF	chr2:49482700-49482850	A549	lung:	n/a	n/a
29	CTCF	chr2:49518120-49518270	RPTEC	kidney:	n/a	n/a
30	CTCF	chr2:49482605-49482679	Spleen_OC	spleen:	n/a	chr2:49482619-49482640
31	CTCF	chr2:49482608-49482681	Hela-S3	cervix:	n/a	chr2:49482619-49482640
32	CTCF	chr2:49449540-49449690	AG04449	skin:	n/a	n/a
33	CTCF	chr2:49482640-49482790	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:49497393-49497500	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:49482550-49482728	HUVEC	blood vessel:	n/a	chr2:49482619-49482640
36	CTCF	chr2:49482540-49482690	HCPEpiC	choroid plexus:	n/a	chr2:49482619-49482640
37	CTCF	chr2:49482540-49482723	LNCaP	prostate:	n/a	chr2:49482619-49482640
38	CTCF	chr2:49449526-49449674	MCF-7	breast:	n/a	n/a
39	CTCF	chr2:49449520-49449670	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:49513280-49513430	AG04449	skin:	n/a	n/a
41	CTCF	chr2:49513340-49513490	RPTEC	kidney:	n/a	n/a
42	CTCF	chr2:49482500-49482650	HMEC	breast:	n/a	chr2:49482619-49482640
43	CTCF	chr2:49518184-49518206	Medullo	brain:	n/a	n/a
44	CTCF	chr2:49449520-49449670	BJ	skin:	n/a	n/a
45	CTCF	chr2:49449400-49449550	HRPEpiC	eye:	n/a	n/a
46	CTCF	chr2:49482520-49482670	HMF	breast:	n/a	chr2:49482619-49482640
47	CTCF	chr2:49497380-49497530	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr2:49449500-49449650	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr2:49456883-49456956	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr2:49482460-49482610	HCM	heart:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:49476946..49478961-chr2:49480994..49483698,2	K562	blood:
2	chr2:49482441..49483071-chr2:49559200..49560186,2	MCF-7	breast:
3	chr2:49464339..49466660-chr2:49467162..49469670,2	MCF-7	breast:
4	chr2:49476946..49478961-chr2:49480994..49483698,2	K562	blood:
5	chr2:49467020..49468811-chr2:49494310..49496052,2	MCF-7	breast:
6	chr2:49482564..49483069-chr2:50629187..50629937,2	MCF-7	breast:
7	chr2:49467020..49468811-chr2:49494310..49496052,2	MCF-7	breast:
8	chr2:49464339..49466660-chr2:49467162..49469670,2	MCF-7	breast:
9	chr2:49482602..49483344-chr2:49717972..49718732,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STON1-GTF2A1L-3	chr2:49452602-49452611	NONHSAT070638
2	lnc-STON1-GTF2A1L-3	chr2:49456719-49457043	NONHSAT070638

No data

Variant related genes	Relation type
RNU6-439P	TF binding region

Extended variants
information (count: 2646 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2646 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556398379	chr2:49448612-49448613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553119521	chr2:49448617-49448618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185556925	chr2:49448618-49448619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373080991	chr2:49448640-49448641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547906998	chr2:49448722-49448723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371039540	chr2:49448768-49448769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140951183	chr2:49448769-49448770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575885399	chr2:49448790-49448791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375463265	chr2:49448820-49448821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558322175	chr2:49448821-49448822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12615919	chr2:49448837-49448838	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs13400058	chr2:49448861-49448862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559828282	chr2:49448893-49448894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577602673	chr2:49448907-49448908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574381324	chr2:49448912-49448913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541411473	chr2:49448927-49448928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115600242	chr2:49448983-49448984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76872060	chr2:49449403-49449404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145581596	chr2:49449435-49449436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11682910	chr2:49449469-49449470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11694147	chr2:49449478-49449479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs368600158	chr2:49449509-49449510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62164295	chr2:49449510-49449511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574443026	chr2:49449522-49449523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541849306	chr2:49449537-49449538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563256706	chr2:49449580-49449581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148897183	chr2:49449589-49449590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11682979	chr2:49449600-49449601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143588549	chr2:49449621-49449622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148064333	chr2:49449635-49449636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11694212	chr2:49449652-49449653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs112939804	chr2:49449666-49449667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11683030	chr2:49449688-49449689	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550989154	chr2:49449690-49449691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536397888	chr2:49449728-49449729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10184470	chr2:49449737-49449738	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370032439	chr2:49449785-49449786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552072123	chr2:49449786-49449787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570363470	chr2:49449833-49449834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534863444	chr2:49449841-49449842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs552880545	chr2:49449849-49449850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574508092	chr2:49449938-49449939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374353459	chr2:49449941-49449942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569954533	chr2:49449946-49449947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189009542	chr2:49449952-49449953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373912560	chr2:49449970-49449971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560506291	chr2:49450003-49450004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201588100	chr2:49450045-49450046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200569902	chr2:49450046-49450047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201306367	chr2:49450048-49450049	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49448600-49449000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:49449400-49450600	Enhancers	Osteobl	bone
3	chr2:49449400-49451400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:49449400-49453600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:49449600-49454400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:49449800-49451000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:49450600-49451600	Weak transcription	Osteobl	bone
8	chr2:49451000-49452800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:49451200-49452200	Enhancers	Stomach Smooth Muscle	stomach
10	chr2:49451400-49452200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:49451600-49452000	Enhancers	Fetal Muscle Leg	muscle
12	chr2:49451600-49452000	Enhancers	Osteobl	bone
13	chr2:49451800-49452400	Enhancers	Colon Smooth Muscle	Colon
14	chr2:49451800-49452600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:49452000-49453200	Weak transcription	Osteobl	bone
16	chr2:49452200-49453000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:49452800-49454400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:49453200-49453800	Enhancers	Osteobl	bone
19	chr2:49453600-49453800	Enhancers	Fetal Muscle Leg	muscle
20	chr2:49453600-49454400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr2:49460400-49460600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:49460600-49460800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:49463600-49464200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:49464200-49469600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:49465000-49465400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:49466000-49466800	Enhancers	Brain Hippocampus Middle	brain
27	chr2:49466400-49467000	Enhancers	Brain Substantia Nigra	brain
28	chr2:49466600-49467000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:49466600-49467800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:49467000-49469200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:49467400-49468800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:49467600-49468000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:49467800-49468400	Enhancers	HSMM	muscle
34	chr2:49467800-49469000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:49467800-49469200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:49467800-49469400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:49468000-49468400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:49468000-49468600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:49468000-49469200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:49468000-49469400	Enhancers	HSMMtube	muscle
41	chr2:49468000-49469800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:49468600-49469400	Enhancers	NHLF	lung
43	chr2:49468600-49469600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:49469000-49469400	Enhancers	Osteobl	bone
45	chr2:49469000-49470600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:49469400-49475400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:49469600-49469800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:49470600-49488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:49475200-49479800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:49475400-49475600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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