Variant report

Variant	nsv213378
Chromosome Location	chr2:47001834-47006121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:255)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:47003953-47004251	K562	blood:	n/a	n/a
2	ATF1	chr2:47003897-47004124	K562	blood:	n/a	n/a
3	CEBPB	chr2:47003768-47004251	A549	lung:	n/a	n/a
4	CEBPB	chr2:47003720-47004097	A549	lung:	n/a	n/a
5	CEBPB	chr2:47002740-47003251	A549	lung:	n/a	n/a
6	CEBPB	chr2:47002577-47003395	A549	lung:	n/a	n/a
7	CEBPB	chr2:47002910-47003226	IMR90	lung:	n/a	n/a
8	CEBPB	chr2:47001653-47001875	IMR90	lung:	n/a	n/a
9	CEBPB	chr2:47002920-47003209	HepG2	liver:	n/a	n/a
10	CREB1	chr2:47003841-47004322	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr2:47004000-47004150	AG09319	gingival:	n/a	n/a
12	CTCF	chr2:47003980-47004130	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr2:47003913-47004215	Medullo	brain:	n/a	n/a
14	CTCF	chr2:47003882-47004238	K562	blood:	n/a	n/a
15	CTCF	chr2:47004580-47004730	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr2:47003980-47004130	AG09309	skin:	n/a	n/a
17	CTCF	chr2:47003990-47004142	GM19239	blood:	n/a	n/a
18	CTCF	chr2:47004040-47004190	GM12866	blood:	n/a	n/a
19	CTCF	chr2:47003863-47004278	GM12878	blood:	n/a	n/a
20	CTCF	chr2:47004026-47004104	GM12891	blood:	n/a	n/a
21	CTCF	chr2:47003940-47004090	HAc	cerebellar:	n/a	n/a
22	CTCF	chr2:47003980-47004130	HCM	heart:	n/a	n/a
23	CTCF	chr2:47004040-47004190	SAEC	small airway:	n/a	n/a
24	CTCF	chr2:47003884-47004257	T-47D	breast:	n/a	n/a
25	CTCF	chr2:47004003-47004127	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:47004000-47004150	GM12878	blood:	n/a	n/a
27	CTCF	chr2:47004051-47004085	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:47004080-47004230	HAc	cerebellar:	n/a	n/a
29	CTCF	chr2:47003949-47004164	Lung_OC	lung:	n/a	n/a
30	CTCF	chr2:47004460-47004610	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr2:47004040-47004190	GM12871	blood:	n/a	n/a
32	CTCF	chr2:47003960-47004110	NB4	blood:	n/a	n/a
33	CTCF	chr2:47003857-47004379	HCT-116	colon:	n/a	n/a
34	CTCF	chr2:47003958-47004175	Gliobla	brain:	n/a	n/a
35	CTCF	chr2:47003948-47004202	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr2:47003960-47004110	HCM	heart:	n/a	n/a
37	CTCF	chr2:47003945-47004185	LNCaP	prostate:	n/a	n/a
38	CTCF	chr2:47003843-47004416	HCT-116	colon:	n/a	n/a
39	CTCF	chr2:47004000-47004150	AG04450	lung:	n/a	n/a
40	CTCF	chr2:47003980-47004130	AG04449	skin:	n/a	n/a
41	CTCF	chr2:47003864-47004226	K562	blood:	n/a	n/a
42	CTCF	chr2:47004000-47004150	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr2:47003943-47004184	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr2:47004000-47004150	AG10803	skin:	n/a	n/a
45	CTCF	chr2:47003959-47004192	GM13976	blood:	n/a	n/a
46	CTCF	chr2:47003986-47004153	NHEK	skin:	n/a	n/a
47	CTCF	chr2:47004000-47004150	Caco-2	colon:	n/a	n/a
48	CTCF	chr2:47003842-47004266	K562	blood:	n/a	n/a
49	CTCF	chr2:47003785-47004216	HepG2	liver:	n/a	n/a
50	CTCF	chr2:47003980-47004130	HCPEpiC	choroid plexus:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:46995520..46997154-chr2:47000594..47003342,2	MCF-7	breast:
2	chr2:46877374..46878299-chr2:47003611..47004563,3	K562	blood:
3	chr2:46890137..46890667-chr2:47003575..47004531,2	MCF-7	breast:
4	chr2:47000943..47003874-chr2:47028312..47030730,2	MCF-7	breast:
5	chr2:46859166..46860148-chr2:47003282..47004503,4	K562	blood:
6	chr2:47005678..47008315-chr2:47011541..47013639,2	MCF-7	breast:
7	chr2:46872190..46873901-chr2:47005919..47008590,2	K562	blood:
8	chr2:46881672..46884638-chr2:47005149..47007963,2	MCF-7	breast:
9	chr2:46883801..46884795-chr2:47003531..47004465,4	MCF-7	breast:
10	chr2:46691759..46692350-chr2:47003556..47004124,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SOCS5-1	chr2:47004922-47007384	ENSG00000260977.1

No data

Variant related genes	Relation type
ENSG00000260977	TF binding region

Extended variants
information (count: 164 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10187754	chr2:47001834-47001835	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186547968	chr2:47001867-47001868	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs72802489	chr2:47001928-47001929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533186250	chr2:47001941-47001942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537209618	chr2:47001942-47001943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558794149	chr2:47001949-47001950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570712175	chr2:47001965-47001966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373096344	chr2:47002082-47002083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190935223	chr2:47002125-47002126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138282482	chr2:47002138-47002139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370721206	chr2:47002144-47002145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35722922	chr2:47002226-47002227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs554665898	chr2:47002228-47002229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116373200	chr2:47002296-47002297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557397086	chr2:47002305-47002306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575348547	chr2:47002313-47002314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545947540	chr2:47002358-47002359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115686053	chr2:47002363-47002364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548914424	chr2:47002375-47002376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573194158	chr2:47002379-47002380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35330069	chr2:47002384-47002385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371396484	chr2:47002415-47002416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142983684	chr2:47002445-47002446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13385156	chr2:47002462-47002463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11680875	chr2:47002473-47002474	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183643614	chr2:47002524-47002525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145099625	chr2:47002525-47002526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138902416	chr2:47002527-47002528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373850691	chr2:47002532-47002533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552397023	chr2:47002541-47002542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565907327	chr2:47002542-47002543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534598409	chr2:47002550-47002551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35420648	chr2:47002570-47002571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546897934	chr2:47002582-47002583	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs568283580	chr2:47002624-47002625	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs112973148	chr2:47002626-47002627	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs556251801	chr2:47002662-47002663	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs535806208	chr2:47002679-47002680	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs556943983	chr2:47002684-47002685	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs72882838	chr2:47002690-47002691	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188833354	chr2:47002746-47002747	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs530235489	chr2:47002860-47002861	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs557918809	chr2:47002938-47002939	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs558463459	chr2:47002963-47002964	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs573131660	chr2:47003031-47003032	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs192879631	chr2:47003032-47003033	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs76169189	chr2:47003053-47003054	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs574262652	chr2:47003075-47003076	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs560885697	chr2:47003076-47003077	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs370007164	chr2:47003127-47003128	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	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
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
2	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:46987400-47005600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:46987400-47005600	Weak transcription	Left Ventricle	heart
5	chr2:46987600-47006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:46992400-47005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:46996000-47005200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:46998800-47002000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:46998800-47002400	Weak transcription	Ovary	ovary
10	chr2:46998800-47005600	Weak transcription	Fetal Brain Male	brain
11	chr2:46999000-47002200	Weak transcription	NHLF	lung
12	chr2:46999000-47002600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:46999800-47004000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:47000200-47002000	Weak transcription	A549	lung
15	chr2:47000800-47005000	Weak transcription	HepG2	liver
16	chr2:47001000-47003200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:47001000-47004000	Enhancers	NHDF-Ad	bronchial
18	chr2:47001000-47008600	Enhancers	Osteobl	bone
19	chr2:47001800-47003200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:47001800-47004000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:47002000-47004400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:47002000-47004600	Enhancers	A549	lung
23	chr2:47002200-47002800	Enhancers	NHLF	lung
24	chr2:47002400-47002800	Enhancers	Ovary	ovary
25	chr2:47002600-47002800	Enhancers	Right Atrium	heart
26	chr2:47002600-47003000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:47002600-47005400	Weak transcription	Right Ventricle	heart
28	chr2:47002800-47005400	Weak transcription	NHLF	lung
29	chr2:47002800-47005600	Weak transcription	Right Atrium	heart
30	chr2:47002800-47007000	Weak transcription	Ovary	ovary
31	chr2:47003000-47003800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:47003200-47005400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:47003200-47005800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:47003800-47004000	Enhancers	Colon Smooth Muscle	Colon
35	chr2:47003800-47004000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr2:47003800-47004400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:47004000-47005400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:47004000-47005600	Weak transcription	NHDF-Ad	bronchial
39	chr2:47004000-47006200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:47004000-47006600	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:47004400-47005800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:47004400-47005800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:47004600-47005000	Weak transcription	A549	lung
44	chr2:47005000-47006400	Enhancers	A549	lung
45	chr2:47005000-47008600	Enhancers	HepG2	liver
46	chr2:47005200-47005400	Weak transcription	Fetal Stomach	stomach
47	chr2:47005200-47009400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:47005200-47010000	Enhancers	Fetal Lung	lung
49	chr2:47005400-47005600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr2:47005400-47005600	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links