Variant report

Variant	nsv874894
Chromosome Location	chr2:113830057-113832981
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:183)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:113830298-113830596	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr2:113830100-113830250	HMEC	breast:	n/a	n/a
3	CTCF	chr2:113829920-113830070	NHEK	skin:	n/a	chr2:113830061-113830070
4	CTCF	chr2:113830020-113830170	SAEC	small airway:	n/a	chr2:113830061-113830070
5	CTCF	chr2:113829980-113830130	HEEpiC	esophagus:	n/a	chr2:113830061-113830070
6	CTCF	chr2:113830020-113830170	K562	blood:	n/a	chr2:113830061-113830070
7	CTCF	chr2:113830040-113830190	HEEpiC	esophagus:	n/a	chr2:113830061-113830070
8	CTCF	chr2:113830020-113830170	HMEC	breast:	n/a	chr2:113830061-113830070
9	CTCF	chr2:113830054-113830154	NHEK	skin:	n/a	chr2:113830061-113830070
10	CTCF	chr2:113829960-113830110	AoAF	blood vessel:	n/a	chr2:113830061-113830070
11	FOS	chr2:113830265-113830487	MCF10A-Er-Src	breast:	n/a	n/a
12	MAFF	chr2:113830280-113830600	HepG2	liver:	n/a	chr2:113830405-113830423
13	MAFK	chr2:113830301-113830680	H1-hESC	embryonic stem cell:	n/a	chr2:113830407-113830422 chr2:113830412-113830422 chr2:113830412-113830421
14	MAFK	chr2:113830278-113830563	HepG2	liver:	n/a	chr2:113830407-113830422 chr2:113830412-113830422 chr2:113830412-113830421
15	MAFK	chr2:113830263-113830592	HepG2	liver:	n/a	chr2:113830407-113830422 chr2:113830412-113830422 chr2:113830412-113830421

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:113830191-113830241	AG04449	skin:	fetal
2	chr2:113830191-113830241	SK-N-SH	brain:	n/a
3	chr2:113832957-113833007	GM12892	blood:	n/a
4	chr2:113830191-113830241	HCM	heart:	n/a
5	chr2:113831203-113831253	HRPEpiC	eye:	n/a
6	chr2:113832957-113833007	AoSMC	blood vessel:	n/a
7	chr2:113831203-113831253	Jurkat	blood:	n/a
8	chr2:113831203-113831253	AG09309	skin:	n/a
9	chr2:113831203-113831253	HCF	heart:	n/a
10	chr2:113830191-113830241	SK-N-MC	brain:	n/a
11	chr2:113830191-113830241	AG09309	skin:	n/a
12	chr2:113832957-113833007	HL-60	blood:	n/a
13	chr2:113830191-113830241	NHDF-neo	bronchial:	n/a
14	chr2:113830191-113830241	HEEpiC	esophagus:	n/a
15	chr2:113832957-113833007	HRE	kidney:	n/a
16	chr2:113832957-113833007	GM12878	blood:	n/a
17	chr2:113830191-113830241	HMEC	breast:	n/a
18	chr2:113831203-113831253	HRE	kidney:	n/a
19	chr2:113832957-113833007	NT2-D1	testis:	n/a
20	chr2:113832957-113833007	CMK	blood:	n/a
21	chr2:113832957-113833007	SK-N-SH_RA	brain:	n/a
22	chr2:113830191-113830241	HRPEpiC	eye:	n/a
23	chr2:113831203-113831253	Caco-2	colon:	n/a
24	chr2:113830191-113830241	SK-N-SH_RA	brain:	n/a
25	chr2:113832957-113833007	PANC-1	pancreas:	n/a
26	chr2:113832957-113833007	Caco-2	colon:	n/a
27	chr2:113830191-113830241	AoSMC	blood vessel:	n/a
28	chr2:113831203-113831253	HAEpiC	amniotic membrane:	n/a
29	chr2:113831203-113831253	U87	brain:	n/a
30	chr2:113832957-113833007	K562	blood:	n/a
31	chr2:113830191-113830241	LNCaP	prostate:	n/a
32	chr2:113830191-113830241	GM12891	blood:	n/a
33	chr2:113832957-113833007	GM19239	blood:	n/a
34	chr2:113830191-113830241	HAEpiC	amniotic membrane:	n/a
35	chr2:113831203-113831253	SKMC	muscle:	n/a
36	chr2:113832957-113833007	HMEC	breast:	n/a
37	chr2:113832957-113833007	AG04449	skin:	fetal
38	chr2:113831203-113831253	NHBE	bronchial:	n/a
39	chr2:113831203-113831253	HIPEpiC	eye:	n/a
40	chr2:113832957-113833007	HUVEC	blood vessel:	n/a
41	chr2:113832957-113833007	GM12891	blood:	n/a
42	chr2:113832957-113833007	Hepatocyte	liver:	n/a
43	chr2:113832957-113833007	BJ	skin:	n/a
44	chr2:113830191-113830241	IMR90	lung:	fetal
45	chr2:113830191-113830241	MCF-7	breast:	n/a
46	chr2:113831203-113831253	T-47D	breast:	n/a
47	chr2:113832957-113833007	HCT-116	colon:	n/a
48	chr2:113831203-113831253	Hepatocyte	liver:	n/a
49	chr2:113830191-113830241	Jurkat	blood:	n/a
50	chr2:113831203-113831253	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113798210..113800371-chr2:113830392..113832016,2	MCF-7	breast:

No data

Variant related genes	Relation type
IL1F10	TF binding region
IL1F10	CpG island

Extended variants
information (count: 148 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13425740	chr2:113830057-113830058	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545464630	chr2:113830084-113830085	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs3811049	chr2:113830150-113830151	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs3811050	chr2:113830173-113830174	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373507235	chr2:113830180-113830181	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs562397389	chr2:113830192-113830193	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs539520371	chr2:113830200-113830201	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs3811051	chr2:113830201-113830202	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs28928293	chr2:113830212-113830213	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs3811052	chr2:113830229-113830230	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs371838423	chr2:113830233-113830234	Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs4849149	chr2:113830251-113830252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200089465	chr2:113830273-113830274	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs188407486	chr2:113830282-113830283	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370732470	chr2:113830290-113830291	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529283115	chr2:113830292-113830293	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs374088158	chr2:113830299-113830300	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200206335	chr2:113830308-113830309	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs141453953	chr2:113830314-113830315	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs146878378	chr2:113830347-113830348	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs368664734	chr2:113830360-113830361	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs370263960	chr2:113830362-113830363	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs373769142	chr2:113830365-113830366	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs367937263	chr2:113830366-113830367	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs536900277	chr2:113830371-113830372	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371707309	chr2:113830388-113830389	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs181198960	chr2:113830413-113830414	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs370806385	chr2:113830436-113830437	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs77133319	chr2:113830460-113830461	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs186398645	chr2:113830461-113830462	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs191242686	chr2:113830540-113830541	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs12469822	chr2:113830563-113830564	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs546002657	chr2:113830569-113830570	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs576032013	chr2:113830570-113830571	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs4849150	chr2:113830582-113830583	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564705689	chr2:113830583-113830584	Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs183491965	chr2:113830614-113830615	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs4849151	chr2:113830626-113830627	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs560622860	chr2:113830628-113830629	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs541058382	chr2:113830662-113830663	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs374039394	chr2:113830668-113830669	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs4145013	chr2:113830688-113830689	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs549358338	chr2:113830701-113830702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562515695	chr2:113830739-113830740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113761685	chr2:113830769-113830770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34510844	chr2:113830794-113830795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550444092	chr2:113830829-113830830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578012939	chr2:113830899-113830900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570339662	chr2:113830919-113830920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3811053	chr2:113830926-113830927	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113825400-113833000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:113825800-113832800	Enhancers	NHEK	skin
3	chr2:113825800-113839600	Enhancers	HMEC	breast
4	chr2:113826200-113833200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:113827400-113832400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:113827800-113832600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:113829200-113832800	Enhancers	Esophagus	oesophagus
8	chr2:113829800-113830200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:113829800-113830200	Enhancers	Placenta	Placenta
10	chr2:113829800-113830200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr2:113829800-113830400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:113829800-113830400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:113829800-113830400	Enhancers	Lung	lung
14	chr2:113829800-113832000	Enhancers	Left Ventricle	heart
15	chr2:113830200-113832000	Weak transcription	Placenta	Placenta
16	chr2:113830400-113830600	ZNF genes & repeats	Lung	lung
17	chr2:113830400-113832000	Enhancers	Fetal Heart	heart
18	chr2:113830600-113831600	Weak transcription	Lung	lung
19	chr2:113830800-113831400	Enhancers	Stomach Mucosa	stomach
20	chr2:113830800-113831800	Enhancers	Fetal Lung	lung
21	chr2:113830800-113833800	Enhancers	Fetal Muscle Leg	muscle
22	chr2:113831000-113831400	Enhancers	Gastric	stomach
23	chr2:113831400-113831800	Weak transcription	Gastric	stomach
24	chr2:113831400-113834000	Weak transcription	Stomach Mucosa	stomach
25	chr2:113831600-113831800	Enhancers	Fetal Intestine Small	intestine
26	chr2:113831600-113832600	Enhancers	Lung	lung
27	chr2:113831800-113832400	Weak transcription	Fetal Intestine Small	intestine
28	chr2:113831800-113832600	Enhancers	Gastric	stomach
29	chr2:113831800-113833000	Enhancers	Primary T cells from cord blood	blood
30	chr2:113831800-113833000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr2:113831800-113833200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr2:113832000-113832400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:113832000-113832800	Enhancers	Placenta	Placenta
34	chr2:113832000-113833000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr2:113832000-113833800	Enhancers	Fetal Thymus	thymus
36	chr2:113832200-113832800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr2:113832200-113833000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:113832200-113833000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:113832400-113833000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr2:113832400-113833200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:113832400-113833200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr2:113832400-113834600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr2:113832400-113835600	Enhancers	Fetal Intestine Small	intestine
44	chr2:113832600-113833000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:113832600-113834600	Weak transcription	Gastric	stomach
46	chr2:113832600-113835000	Enhancers	Fetal Intestine Large	intestine
47	chr2:113832600-113835800	Weak transcription	Lung	lung
48	chr2:113832800-113834000	Weak transcription	NHEK	skin
49	chr2:113832800-113835800	Weak transcription	Esophagus	oesophagus

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