Variant report

Variant	nsv511806
Chromosome Location	chr2:113841061-113844598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:235)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:235 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:113841883-113842184	K562	blood:	n/a	n/a
2	ARID3A	chr2:113841833-113842200	HepG2	liver:	n/a	n/a
3	ATF1	chr2:113842468-113842646	K562	blood:	n/a	n/a
4	BHLHE40	chr2:113841820-113842100	K562	blood:	n/a	n/a
5	BHLHE40	chr2:113841852-113842105	GM12878	blood:	n/a	n/a
6	CBX3	chr2:113841780-113842272	HCT-116	colon:	n/a	n/a
7	CTCF	chr2:113841500-113841650	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr2:113842060-113842210	HFF	foreskin:	n/a	n/a
9	CTCF	chr2:113841957-113842091	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr2:113841960-113842110	GM12871	blood:	n/a	n/a
11	CTCF	chr2:113842260-113842410	AG10803	skin:	n/a	n/a
12	CTCF	chr2:113841940-113842090	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr2:113841900-113842050	GM12874	blood:	n/a	n/a
14	CTCF	chr2:113841755-113842249	HCT-116	colon:	n/a	n/a
15	CTCF	chr2:113841940-113842090	AG09309	skin:	n/a	n/a
16	CTCF	chr2:113841080-113841230	GM12874	blood:	n/a	n/a
17	CTCF	chr2:113841960-113842110	GM12872	blood:	n/a	n/a
18	CTCF	chr2:113841920-113842070	GM12873	blood:	n/a	n/a
19	CTCF	chr2:113841956-113842136	Lung_OC	lung:	n/a	n/a
20	CTCF	chr2:113841913-113842130	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr2:113841920-113842070	GM12878	blood:	n/a	n/a
22	CTCF	chr2:113841940-113842090	HPF	lung:	n/a	n/a
23	CTCF	chr2:113841580-113841730	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr2:113841940-113842090	AG09319	gingival:	n/a	n/a
25	CTCF	chr2:113841906-113842126	LNCaP	prostate:	n/a	n/a
26	CTCF	chr2:113841940-113842090	GM12869	blood:	n/a	n/a
27	CTCF	chr2:113841920-113842070	GM12875	blood:	n/a	n/a
28	CTCF	chr2:113841960-113842110	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr2:113841740-113842240	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:113841420-113841570	GM12875	blood:	n/a	n/a
31	CTCF	chr2:113841960-113842110	GM12865	blood:	n/a	n/a
32	CTCF	chr2:113841900-113842050	HCFaa	heart:	n/a	n/a
33	CTCF	chr2:113841991-113842053	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:113843120-113843270	SAEC	small airway:	n/a	n/a
35	CTCF	chr2:113841250-113842446	A549	lung:	n/a	n/a
36	CTCF	chr2:113841907-113842158	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr2:113841520-113841670	HMEC	breast:	n/a	n/a
38	CTCF	chr2:113841940-113842090	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr2:113841484-113841556	NHEK	skin:	n/a	n/a
40	CTCF	chr2:113841380-113841530	K562	blood:	n/a	n/a
41	CTCF	chr2:113841900-113842050	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr2:113841940-113842090	NHEK	skin:	n/a	n/a
43	CTCF	chr2:113841960-113842110	GM06990	blood:	n/a	n/a
44	CTCF	chr2:113841888-113842243	A549	lung:	n/a	n/a
45	CTCF	chr2:113841951-113842118	Medullo	brain:	n/a	n/a
46	CTCF	chr2:113841900-113842050	HMF	breast:	n/a	n/a
47	CTCF	chr2:113841940-113842090	AG10803	skin:	n/a	n/a
48	CTCF	chr2:113842140-113842290	GM12872	blood:	n/a	n/a
49	CTCF	chr2:113841920-113842070	HVMF	connective:	n/a	n/a
50	CTCF	chr2:113841888-113842143	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:113841554..113842111-chr2:113896078..113896943,2	MCF-7	breast:
2	chr2:113839317..113841682-chr2:113938699..113940328,2	K562	blood:
3	chr2:113840604..113842115-chr2:113843174..113845209,2	K562	blood:
4	chr2:113842260..113843239-chr2:113894352..113895397,3	MCF-7	breast:
5	chr2:113842067..113843806-chr2:113845279..113847597,2	K562	blood:
6	chr2:113834467..113836706-chr2:113841489..113843964,2	MCF-7	breast:
7	chr2:113840473..113842575-chr2:113882514..113884830,2	MCF-7	breast:
8	chr2:113840523..113843293-chr2:113890844..113893174,3	MCF-7	breast:
9	chr2:113741483..113743922-chr2:113839528..113841138,2	K562	blood:
10	chr2:113840365..113842107-chr2:113890479..113892989,2	MCF-7	breast:
11	chr2:113840278..113841811-chr2:113847020..113849083,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-1180P	TF binding region
ENSG00000201805	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs539071790	chr2:113841075-113841076	Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371238557	chr2:113841099-113841100	Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs568566134	chr2:113841115-113841116	Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs80057954	chr2:113841119-113841120	Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116156831	chr2:113841122-113841123	Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556022789	chr2:113841129-113841130	Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs188568060	chr2:113841137-113841138	Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs57475682	chr2:113841177-113841178	Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs533251546	chr2:113841225-113841226	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs193245076	chr2:113841339-113841340	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs557978027	chr2:113841364-113841365	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs115177445	chr2:113841367-113841368	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540256216	chr2:113841441-113841442	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs560083232	chr2:113841459-113841460	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528406227	chr2:113841481-113841482	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541701711	chr2:113841495-113841496	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs34380841	chr2:113841507-113841508	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs561966953	chr2:113841509-113841510	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs6722922	chr2:113841515-113841516	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6750559	chr2:113841532-113841533	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570457357	chr2:113841548-113841549	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533025413	chr2:113841599-113841600	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546652436	chr2:113841624-113841625	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs145434557	chr2:113841648-113841649	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs114629723	chr2:113841748-113841749	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs11687782	chr2:113841782-113841783	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs538056342	chr2:113841785-113841786	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs184040577	chr2:113841786-113841787	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs113176028	chr2:113841829-113841830	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs386649288	chr2:113841838-113841839	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs191179303	chr2:113841839-113841840	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs374485251	chr2:113841850-113841851	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs367766615	chr2:113841857-113841858	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs183678335	chr2:113841890-113841891	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs147683985	chr2:113841963-113841964	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs55932259	chr2:113841968-113841969	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575448999	chr2:113842002-113842003	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574585082	chr2:113842022-113842023	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs544091297	chr2:113842037-113842038	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564289722	chr2:113842095-113842096	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs200652254	chr2:113842124-113842125	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs546008477	chr2:113842125-113842126	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs78234037	chr2:113842134-113842135	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs560186902	chr2:113842135-113842136	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs56078424	chr2:113842136-113842137	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs17042833	chr2:113842279-113842280	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142352705	chr2:113842280-113842281	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560230064	chr2:113842339-113842340	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs146271656	chr2:113842375-113842376	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs528904189	chr2:113842388-113842389	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113838200-113842200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113838200-113842200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:113838200-113842200	Weak transcription	Stomach Mucosa	stomach
4	chr2:113838600-113842000	Weak transcription	NHEK	skin
5	chr2:113838800-113842000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:113839400-113843600	Weak transcription	Esophagus	oesophagus
7	chr2:113839600-113842200	Weak transcription	HMEC	breast
8	chr2:113840000-113842200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:113840600-113842000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:113840800-113841200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:113840800-113841400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr2:113840800-113842400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr2:113841000-113841200	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
14	chr2:113841400-113847400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr2:113842000-113843800	Enhancers	NHEK	skin
16	chr2:113842200-113842400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:113842200-113842400	Enhancers	Lung	lung
18	chr2:113842200-113842600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:113842200-113842600	Enhancers	Stomach Mucosa	stomach
20	chr2:113842200-113843800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:113842200-113843800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:113842200-113844000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:113842200-113844200	Enhancers	HMEC	breast
24	chr2:113842400-113842600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr2:113842600-113842800	Weak transcription	Stomach Mucosa	stomach
26	chr2:113842800-113843400	Enhancers	Stomach Mucosa	stomach
27	chr2:113843200-113843600	Enhancers	HepG2	liver
28	chr2:113843600-113843800	Enhancers	Esophagus	oesophagus
29	chr2:113843600-113845000	Weak transcription	HepG2	liver
30	chr2:113843800-113847600	Weak transcription	Esophagus	oesophagus

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