Variant report

Variant	nsv961640
Chromosome Location	chr2:114336681-114342320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:758)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:758 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:114341464-114341790	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:114341528-114341709	K562	blood:	n/a	n/a
3	ARID3A	chr2:114340115-114340374	K562	blood:	n/a	n/a
4	ATF1	chr2:114340089-114340480	K562	blood:	n/a	n/a
5	ATF2	chr2:114341425-114341694	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr2:114341413-114341806	GM12878	blood:	n/a	n/a
7	ATF3	chr2:114341420-114341810	A549	lung:	n/a	n/a
8	ATF3	chr2:114341426-114341722	A549	lung:	n/a	n/a
9	BATF	chr2:114342145-114342363	GM12878	blood:	n/a	n/a
10	BATF	chr2:114341254-114341925	GM12878	blood:	n/a	n/a
11	BATF	chr2:114340809-114341094	GM12878	blood:	n/a	n/a
12	BATF	chr2:114340791-114341141	GM12878	blood:	n/a	n/a
13	BATF	chr2:114337655-114337855	GM12878	blood:	n/a	n/a
14	BATF	chr2:114341927-114342368	GM12878	blood:	n/a	n/a
15	BCL11A	chr2:114338132-114338304	GM12878	blood:	n/a	n/a
16	BCL11A	chr2:114341161-114342683	GM12878	blood:	n/a	chr2:114341890-114341903 chr2:114341855-114341868 chr2:114341592-114341601 chr2:114341601-114341614 chr2:114341854-114341867
17	BCL11A	chr2:114341277-114342392	GM12878	blood:	n/a	chr2:114341890-114341903 chr2:114341855-114341868 chr2:114341592-114341601 chr2:114341601-114341614 chr2:114341854-114341867
18	BCL11A	chr2:114340779-114341050	GM12878	blood:	n/a	n/a
19	BCLAF1	chr2:114341433-114341804	GM12878	blood:	n/a	chr2:114341592-114341601 chr2:114341601-114341614
20	BCLAF1	chr2:114341410-114341746	K562	blood:	n/a	chr2:114341592-114341601 chr2:114341601-114341614
21	BCLAF1	chr2:114341440-114341761	GM12878	blood:	n/a	chr2:114341592-114341601 chr2:114341601-114341614
22	BCLAF1	chr2:114341405-114341749	K562	blood:	n/a	chr2:114341592-114341601 chr2:114341601-114341614
23	BHLHE40	chr2:114341439-114341796	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:114337717-114338231	HepG2	liver:	n/a	n/a
25	BHLHE40	chr2:114341023-114342085	HepG2	liver:	n/a	n/a
26	BHLHE40	chr2:114339443-114339717	HepG2	liver:	n/a	n/a
27	BHLHE40	chr2:114341424-114341790	K562	blood:	n/a	n/a
28	BHLHE40	chr2:114341416-114341782	HepG2	liver:	n/a	n/a
29	BRCA1	chr2:114341592-114341723	HepG2	liver:	n/a	n/a
30	CBX3	chr2:114339835-114341137	K562	blood:	n/a	n/a
31	CBX3	chr2:114341256-114342113	K562	blood:	n/a	n/a
32	CBX3	chr2:114341274-114341768	K562	blood:	n/a	n/a
33	CBX3	chr2:114337593-114339002	K562	blood:	n/a	n/a
34	CBX3	chr2:114335770-114336797	K562	blood:	n/a	n/a
35	CBX3	chr2:114337671-114338800	K562	blood:	n/a	n/a
36	CBX3	chr2:114341495-114341746	HCT-116	colon:	n/a	n/a
37	CCNT2	chr2:114341529-114341828	K562	blood:	n/a	n/a
38	CEBPB	chr2:114341538-114341725	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr2:114341209-114341949	GM12878	blood:	n/a	n/a
40	CEBPB	chr2:114341488-114341742	GM12878	blood:	n/a	n/a
41	CEBPB	chr2:114337607-114338681	K562	blood:	n/a	n/a
42	CEBPB	chr2:114337659-114337982	K562	blood:	n/a	n/a
43	CEBPB	chr2:114341433-114341712	HepG2	liver:	n/a	n/a
44	CEBPB	chr2:114341529-114341724	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr2:114341492-114341684	HepG2	liver:	n/a	n/a
46	CEBPB	chr2:114337775-114337980	IMR90	lung:	n/a	n/a
47	CEBPD	chr2:114337666-114338679	K562	blood:	n/a	n/a
48	CEBPD	chr2:114341452-114341767	HepG2	liver:	n/a	n/a
49	CEBPD	chr2:114336333-114336751	K562	blood:	n/a	n/a
50	CEBPD	chr2:114341425-114341722	HepG2	liver:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:114341680-114341730	ProgFib	skin:	n/a
2	chr2:114341680-114341730	PFSK-1	brain:	n/a
3	chr2:114340391-114340441	HepG2	liver:	n/a
4	chr2:114340391-114340441	HUVEC	blood vessel:	n/a
5	chr2:114341111-114341161	HepG2	liver:	n/a
6	chr2:114340391-114340441	GM12878	blood:	n/a
7	chr2:114341680-114341730	SAEC	small airway:	n/a
8	chr2:114341631-114341681	H1-hESC	embryonic stem cell:	embryo
9	chr2:114340391-114340441	AG09319	gingival:	n/a
10	chr2:114340391-114340441	HNPCEpiC	eye:	n/a
11	chr2:114341631-114341681	GM12878	blood:	n/a
12	chr2:114341680-114341730	ovcar-3	ovarian:	n/a
13	chr2:114341631-114341681	HEEpiC	esophagus:	n/a
14	chr2:114341631-114341681	GM12891	blood:	n/a
15	chr2:114341631-114341681	BJ	skin:	n/a
16	chr2:114342108-114342158	NH-A	brain:	n/a
17	chr2:114341631-114341681	MCF10A-Er-Src	breast:	n/a
18	chr2:114341680-114341730	Caco-2	colon:	n/a
19	chr2:114341680-114341730	GM12878	blood:	n/a
20	chr2:114341111-114341161	Hela-S3	cervix:	n/a
21	chr2:114341111-114341161	HAEpiC	amniotic membrane:	n/a
22	chr2:114342108-114342158	Hela-S3	cervix:	n/a
23	chr2:114341680-114341730	SK-N-SH_RA	brain:	n/a
24	chr2:114341111-114341161	BE2_C	brain:	n/a
25	chr2:114341631-114341681	U87	brain:	n/a
26	chr2:114341111-114341161	HUVEC	blood vessel:	n/a
27	chr2:114341631-114341681	K562	blood:	n/a
28	chr2:114341111-114341161	AG04449	skin:	fetal
29	chr2:114341680-114341730	AG09319	gingival:	n/a
30	chr2:114340391-114340441	HL-60	blood:	n/a
31	chr2:114341111-114341161	HCPEpiC	choroid plexus:	n/a
32	chr2:114342108-114342158	SK-N-SH	brain:	n/a
33	chr2:114340391-114340441	HCT-116	colon:	n/a
34	chr2:114341631-114341681	AG04450	lung:	fetal
35	chr2:114340391-114340441	BE2_C	brain:	n/a
36	chr2:114340391-114340441	U87	brain:	n/a
37	chr2:114341680-114341730	HCF	heart:	n/a
38	chr2:114341680-114341730	GM19239	blood:	n/a
39	chr2:114340391-114340441	HRE	kidney:	n/a
40	chr2:114341631-114341681	HPAEpiC	pulmonary alveolar:	n/a
41	chr2:114341111-114341161	A549	lung:	n/a
42	chr2:114340391-114340441	HAEpiC	amniotic membrane:	n/a
43	chr2:114341111-114341161	SK-N-MC	brain:	n/a
44	chr2:114340391-114340441	NT2-D1	testis:	n/a
45	chr2:114340391-114340441	NH-A	brain:	n/a
46	chr2:114340391-114340441	AG10803	skin:	n/a
47	chr2:114341680-114341730	HCPEpiC	choroid plexus:	n/a
48	chr2:114342108-114342158	A549	lung:	n/a
49	chr2:114342108-114342158	PrEC	prostate:	n/a
50	chr2:114341111-114341161	HRPEpiC	eye:	n/a

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-1302	chr2:114340581-114340601	MIMAT0005890_4

No data

Variant related genes	Relation type
WASH2P	TF binding region
MIR1302-3	TF binding region
WASH2P	CpG island
MIR1302-3	CpG island

Extended variants
information (count: 232 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566914562	chr2:114336707-114336708	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs139955739	chr2:114336733-114336734	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
3	rs549528038	chr2:114336756-114336757	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs569490223	chr2:114336762-114336763	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs185886415	chr2:114336773-114336774	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs558519891	chr2:114336826-114336827	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs577709443	chr2:114336874-114336875	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs533812128	chr2:114336899-114336900	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553498471	chr2:114336918-114336919	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs199571835	chr2:114336993-114336994	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs573635420	chr2:114337051-114337052	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs113171039	chr2:114337108-114337109	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200536199	chr2:114337386-114337387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373468876	chr2:114337443-114337444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151324693	chr2:114337449-114337450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562686718	chr2:114337507-114337508	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs148243850	chr2:114337520-114337521	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs490877	chr2:114337554-114337555	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs575860070	chr2:114337560-114337561	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs544896229	chr2:114337565-114337566	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs564876275	chr2:114337567-114337568	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs201823416	chr2:114337575-114337576	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs573931274	chr2:114337577-114337578	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs77679156	chr2:114337583-114337584	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs112559669	chr2:114337589-114337590	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs375506106	chr2:114337591-114337592	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs62159317	chr2:114337592-114337593	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs144610293	chr2:114337594-114337595	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs113973470	chr2:114337660-114337661	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs112192131	chr2:114337683-114337684	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs200128966	chr2:114337694-114337695	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs201093305	chr2:114337708-114337709	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs141749731	chr2:114337779-114337780	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs3962431	chr2:114337795-114337796	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs113378037	chr2:114337861-114337862	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs546926071	chr2:114337875-114337876	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs62159318	chr2:114337904-114337905	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200446409	chr2:114337986-114337987	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201499022	chr2:114338056-114338057	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs199514142	chr2:114338146-114338147	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs55983513	chr2:114338220-114338221	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs529355867	chr2:114338222-114338223	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs200630009	chr2:114338232-114338233	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs201461457	chr2:114338238-114338239	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs62159320	chr2:114338304-114338305	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs55940526	chr2:114338308-114338309	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs549245329	chr2:114338323-114338324	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs569451935	chr2:114338340-114338341	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs7349388	chr2:114338387-114338388	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs200545215	chr2:114338391-114338392	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Myelofibrosis	22110671	CNVD

Chromatin state (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114311400-114340400	Weak transcription	Fetal Stomach	stomach
2	chr2:114314600-114339000	Weak transcription	NHLF	lung
3	chr2:114329600-114341000	Weak transcription	NHDF-Ad	bronchial
4	chr2:114333200-114340000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:114333200-114340200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:114334800-114340200	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:114336600-114336800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:114336600-114337000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:114336600-114337000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:114336600-114340200	Enhancers	K562	blood
11	chr2:114336800-114340200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:114337000-114338600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:114337000-114340200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:114338600-114339000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:114339000-114339200	Enhancers	NHLF	lung
16	chr2:114339000-114340200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:114339200-114340200	Weak transcription	NHLF	lung
18	chr2:114340000-114340200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:114340000-114340200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:114340000-114340200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:114340000-114340200	Enhancers	Fetal Kidney	kidney
22	chr2:114340000-114340200	Enhancers	Dnd41	blood
23	chr2:114340000-114340600	Bivalent Enhancer	HepG2	liver
24	chr2:114340000-114340800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:114340000-114341000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:114340000-114341000	Enhancers	Fetal Muscle Trunk	muscle
27	chr2:114340000-114341000	Enhancers	Placenta	Placenta
28	chr2:114340000-114341000	Enhancers	HSMMtube	muscle
29	chr2:114340000-114341200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:114340200-114340400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr2:114340200-114340400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr2:114340200-114340400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:114340200-114340400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr2:114340200-114340400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:114340200-114340400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:114340200-114340400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:114340200-114340400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:114340200-114340400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
39	chr2:114340200-114340400	Enhancers	Brain Substantia Nigra	brain
40	chr2:114340200-114340400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:114340200-114340400	Enhancers	Small Intestine	intestine
42	chr2:114340200-114340400	Enhancers	Thymus	Thymus
43	chr2:114340200-114340400	Enhancers	NHEK	skin
44	chr2:114340200-114340400	Enhancers	NHLF	lung
45	chr2:114340200-114340600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:114340200-114340600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr2:114340200-114340600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:114340200-114340600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:114340200-114340600	Flanking Active TSS	Fetal Kidney	kidney
50	chr2:114340200-114340800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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