Variant report

Variant	nsv1008947
Chromosome Location	chr2:34959421-35019746
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:2)
LncRNA
region (count:10)
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	BACH1	chr2:34989249-34989315	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr2:34963851-34964109	GM12878	blood:	n/a	n/a
3	CEBPB	chr2:35003237-35003348	HepG2	liver:	n/a	n/a
4	CEBPB	chr2:35010577-35010790	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:34960041-34960126	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr2:34963635-34964103	GM12878	blood:	n/a	n/a
7	CTCF	chr2:34963860-34964010	GM12871	blood:	n/a	n/a
8	CTCF	chr2:34963888-34964029	GM19238	blood:	n/a	n/a
9	CTCF	chr2:34963860-34964010	HEK293	kidney:	n/a	n/a
10	CTCF	chr2:34963918-34964004	A549	lung:	n/a	n/a
11	CTCF	chr2:34963860-34964010	GM12870	blood:	n/a	n/a
12	CTCF	chr2:34963784-34964024	HepG2	liver:	n/a	chr2:34963821-34963828
13	CTCF	chr2:34963840-34963990	BE2_C	brain:	n/a	n/a
14	CTCF	chr2:34963800-34963950	HEK293	kidney:	n/a	chr2:34963821-34963828
15	CTCF	chr2:34963898-34964001	LNCaP	prostate:	n/a	n/a
16	CTCF	chr2:34963880-34964030	Caco-2	colon:	n/a	n/a
17	CTCF	chr2:34963891-34964020	GM19239	blood:	n/a	n/a
18	CTCF	chr2:34963900-34964050	Caco-2	colon:	n/a	n/a
19	CTCF	chr2:34963880-34964030	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr2:34963880-34964030	GM12873	blood:	n/a	n/a
21	CTCF	chr2:34963880-34964030	GM12872	blood:	n/a	n/a
22	CTCF	chr2:34963860-34964010	GM06990	blood:	n/a	n/a
23	CTCF	chr2:34963860-34964010	HRE	kidney:	n/a	n/a
24	CTCF	chr2:34963880-34964030	GM12874	blood:	n/a	n/a
25	CTCF	chr2:34963840-34963990	HMF	breast:	n/a	n/a
26	CTCF	chr2:34960349-34960401	GM12878	blood:	n/a	n/a
27	CTCF	chr2:34963900-34964050	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:34963780-34963930	GM12865	blood:	n/a	chr2:34963821-34963828
29	CTCF	chr2:34963860-34964010	HMF	breast:	n/a	n/a
30	CTCF	chr2:34963720-34963870	GM12864	blood:	n/a	chr2:34963821-34963828
31	CTCF	chr2:34963821-34963995	HepG2	liver:	n/a	chr2:34963821-34963828
32	CTCF	chr2:34963920-34964018	GM10248	blood:	n/a	n/a
33	CTCF	chr2:34963900-34964050	A549	lung:	n/a	n/a
34	CTCF	chr2:34963880-34964030	GM12878	blood:	n/a	n/a
35	CTCF	chr2:34963860-34964010	GM12878	blood:	n/a	n/a
36	CTCF	chr2:34963880-34964030	NB4	blood:	n/a	n/a
37	CTCF	chr2:34963764-34964114	H1-hESC	embryonic stem cell:	n/a	chr2:34963821-34963828
38	CTCF	chr2:34963900-34964050	BE2_C	brain:	n/a	n/a
39	CTCF	chr2:34964040-34964190	HPF	lung:	n/a	n/a
40	CTCF	chr2:34963860-34964010	GM12869	blood:	n/a	n/a
41	CTCF	chr2:34963882-34964032	MCF-7	breast:	n/a	n/a
42	CTCF	chr2:34963840-34963990	GM12869	blood:	n/a	n/a
43	CTCF	chr2:34963721-34964239	GM12878	blood:	n/a	chr2:34963821-34963828
44	CTCF	chr2:34963880-34964030	GM12868	blood:	n/a	n/a
45	CTCF	chr2:34963882-34964054	Pancreas_OC	pancreas:	n/a	n/a
46	CTCF	chr2:34963873-34964032	GM13977	blood:	n/a	n/a
47	CTCF	chr2:34994992-34995048	GM20000	blood:	n/a	n/a
48	CTCF	chr2:34963860-34964010	GM12873	blood:	n/a	n/a
49	CTCF	chr2:34978760-34978910	WERI-Rb-1	eye:	n/a	chr2:34978801-34978809 chr2:34978798-34978819 chr2:34978797-34978813 chr2:34978799-34978812 chr2:34978796-34978814
50	CTCF	chr2:34963880-34964030	GM06990	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
2	chr2:35006274..35008792-chr8:67342394..67345182,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-4	chr2:34978401-34978447	NONHSAT070051
2	lnc-RASGRP3-4	chr2:34962172-34963510	NONHSAT070051
3	lnc-FAM98A-2	chr2:34962148-34962185	ENSG00000232153
4	lnc-RASGRP3-4	chr2:34960145-34960753	ENSG00000228262.4
5	lnc-RASGRP3-4	chr2:34962148-34962183	NONHSAT070048
6	lnc-FAM98A-2	chr2:34960042-34960174	ENSG00000232153
7	lnc-RASGRP3-4	chr2:34962388-34962644	ENSG00000228262.4
8	lnc-RASGRP3-4	chr2:34962388-34963298	ENSG00000228262
9	lnc-RASGRP3-4	chr2:34962388-34962638	ENSG00000228262.4
10	lnc-RASGRP3-4	chr2:34959627-34961285	NONHSAT070048

No data

Variant related genes	Relation type
ENSG00000232153	TF binding region
ENSG00000228262	TF binding region
ENSG00000147576	chromatin interactions

Extended variants
information (count: 1339 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1339 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3108097	chr2:34959421-34959422	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74429840	chr2:34959427-34959428	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs529440735	chr2:34959433-34959434	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs539050162	chr2:34959448-34959449	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs187076202	chr2:34959486-34959487	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs534967610	chr2:34959487-34959488	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs35665312	chr2:34959495-34959496	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs71894786	chr2:34959519-34959520	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs375883627	chr2:34959522-34959523	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs66775696	chr2:34959526-34959527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs398060077	chr2:34959530-34959531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150860315	chr2:34959557-34959558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188867804	chr2:34959583-34959584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574929243	chr2:34959594-34959595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13022736	chr2:34959596-34959597	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs143856138	chr2:34959687-34959688	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs182002078	chr2:34959688-34959689	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs546237694	chr2:34959742-34959743	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs575619058	chr2:34959829-34959830	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs559770697	chr2:34959878-34959879	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs186276239	chr2:34959913-34959914	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs3115267	chr2:34959923-34959924	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558426212	chr2:34959949-34959950	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs77719934	chr2:34959974-34959975	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs576957496	chr2:34960022-34960023	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs530627696	chr2:34960042-34960043	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs190744981	chr2:34960045-34960046	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs570677176	chr2:34960063-34960064	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs539313549	chr2:34960067-34960068	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs141030293	chr2:34960068-34960069	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs566108753	chr2:34960093-34960094	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs182919310	chr2:34960119-34960120	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs555158079	chr2:34960124-34960125	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs575256744	chr2:34960159-34960160	Active TSS Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs543655293	chr2:34960183-34960184	Active TSS Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs144963397	chr2:34960240-34960241	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs185849931	chr2:34960277-34960278	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs566513410	chr2:34960288-34960289	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs147928635	chr2:34960298-34960299	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs559833777	chr2:34960318-34960319	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs115366338	chr2:34960365-34960366	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs10184791	chr2:34960375-34960376	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562046055	chr2:34960386-34960387	Flanking Active TSS Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs538556389	chr2:34960403-34960404	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs550516749	chr2:34960430-34960431	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs556575892	chr2:34960455-34960456	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs74373967	chr2:34960470-34960471	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs533084060	chr2:34960476-34960477	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs369031340	chr2:34960488-34960489	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs535598930	chr2:34960495-34960496	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34955200-34963800	Weak transcription	Pancreas	Pancrea
2	chr2:34956800-34961200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:34957400-34960000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:34958200-34959800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:34958400-34960800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:34958600-34960000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:34958600-34961400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:34958600-34961400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr2:34958800-34961400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:34959000-34959600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:34959000-34960200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:34959000-34960600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:34959000-34961000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:34959200-34960000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:34959600-34960400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:34960000-34960200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr2:34960000-34960400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:34960200-34960400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:34960200-34960400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:34960400-34960600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr2:34960400-34961000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:34960400-34961800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:34960600-34961000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:34961000-34961600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:34961200-34961400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:34961400-34967400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:34961600-34966000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:34961800-34963200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:34963200-34964200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:34963800-34964200	Enhancers	Pancreas	Pancrea
31	chr2:34966000-34966600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:34967400-34968000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr2:34968600-34968800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:34979800-34980400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:34995600-35001000	Weak transcription	Psoas Muscle	Psoas
36	chr2:35010000-35010400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:35010000-35010400	Enhancers	Brain Substantia Nigra	brain
38	chr2:35010400-35010800	Enhancers	Brain Hippocampus Middle	brain
39	chr2:35010400-35011400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:35011600-35011800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr2:35011800-35013200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:35013800-35014600	Enhancers	Stomach Mucosa	stomach
43	chr2:35014000-35018000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:35014400-35015000	Enhancers	H9 Cell Line	embryonic stem cell
45	chr2:35014600-35019000	Weak transcription	Stomach Mucosa	stomach
46	chr2:35015000-35015400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:35015200-35016600	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr2:35016600-35017400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:35017400-35017800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr2:35017800-35019600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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