Variant report

Variant	nsv535979
Chromosome Location	chr2:148822091-148859805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:103)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:103 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr2:148842666-148842699	A549	lung:	n/a	n/a
2	CEBPB	chr2:148843497-148843822	HepG2	liver:	n/a	chr2:148843670-148843681
3	CEBPB	chr2:148843505-148843790	A549	lung:	n/a	chr2:148843670-148843681
4	CEBPB	chr2:148844958-148845226	HepG2	liver:	n/a	chr2:148845095-148845106
5	CEBPB	chr2:148843530-148843819	K562	blood:	n/a	chr2:148843670-148843681
6	CEBPB	chr2:148843492-148843803	IMR90	lung:	n/a	chr2:148843670-148843681
7	CTCF	chr2:148853663-148854086	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:148852560-148852710	HepG2	liver:	n/a	n/a
9	CTCF	chr2:148853820-148853970	AG09319	gingival:	n/a	n/a
10	CTCF	chr2:148834740-148834890	HepG2	liver:	n/a	n/a
11	CTCF	chr2:148853800-148853950	HPF	lung:	n/a	n/a
12	CTCF	chr2:148837705-148837711	GM10248	blood:	n/a	n/a
13	CTCF	chr2:148853800-148853950	HCPEpiC	choroid plexus:	n/a	n/a
14	CTCF	chr2:148837722-148837725	GM10248	blood:	n/a	n/a
15	CTCF	chr2:148853760-148853910	HMEC	breast:	n/a	n/a
16	CTCF	chr2:148853871-148853936	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr2:148853840-148853990	HPAF	blood vessel:	n/a	n/a
18	CTCF	chr2:148853800-148853950	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr2:148834900-148835050	HCM	heart:	n/a	n/a
20	CTCF	chr2:148853880-148854030	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr2:148853800-148853950	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr2:148853800-148853950	GM12865	blood:	n/a	n/a
23	CTCF	chr2:148853837-148853981	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:148853840-148853990	AG09309	skin:	n/a	n/a
25	CTCF	chr2:148853920-148854070	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:148833940-148834090	HPAF	blood vessel:	n/a	n/a
27	CTCF	chr2:148853760-148853910	NHEK	skin:	n/a	n/a
28	CTCF	chr2:148853840-148853990	BJ	skin:	n/a	n/a
29	CTCF	chr2:148853817-148853999	MCF-7	breast:	n/a	n/a
30	CTCF	chr2:148853720-148853870	HCFaa	heart:	n/a	n/a
31	CTCF	chr2:148853780-148853930	HMEC	breast:	n/a	n/a
32	CTCF	chr2:148853860-148854010	AG04450	lung:	n/a	n/a
33	CTCF	chr2:148853831-148853935	ProgFib	skin:	n/a	n/a
34	CTCF	chr2:148853820-148853970	AG04449	skin:	n/a	n/a
35	CUX1	chr2:148829108-148829110	K562	blood:	n/a	n/a
36	CUX1	chr2:148823826-148824004	K562	blood:	n/a	n/a
37	E2F4	chr2:148829252-148829362	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr2:148854270-148854286	GM12878	blood:	n/a	n/a
39	FOS	chr2:148843621-148843803	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr2:148853493-148853768	HUVEC	blood vessel:	n/a	chr2:148853670-148853679 chr2:148853641-148853650
41	IRF1	chr2:148858316-148858317	K562	blood:	n/a	n/a
42	JUND	chr2:148843575-148843889	HepG2	liver:	n/a	n/a
43	JUND	chr2:148823743-148823822	K562	blood:	n/a	n/a
44	MAFF	chr2:148833615-148833869	HepG2	liver:	n/a	n/a
45	MAFF	chr2:148823279-148823535	K562	blood:	n/a	n/a
46	MAFF	chr2:148823177-148823519	HepG2	liver:	n/a	n/a
47	MAFK	chr2:148833603-148833905	HepG2	liver:	n/a	n/a
48	MAFK	chr2:148836675-148836920	HepG2	liver:	n/a	chr2:148836761-148836772 chr2:148836762-148836773 chr2:148836761-148836777 chr2:148836760-148836774 chr2:148836780-148836791 chr2:148836762-148836773 chr2:148836761-148836772 chr2:148836780-148836791
49	MAFK	chr2:148843554-148843681	HepG2	liver:	n/a	n/a
50	MAFK	chr2:148824769-148824980	HepG2	liver:	n/a	chr2:148824873-148824888

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:148839265-148839315	Caco-2	colon:	n/a
2	chr2:148839265-148839315	HRCEpiC	kidney:	n/a
3	chr2:148839265-148839315	HRE	kidney:	n/a
4	chr2:148839265-148839315	HepG2	liver:	n/a
5	chr2:148839265-148839315	NB4	blood:	n/a
6	chr2:148839265-148839315	PFSK-1	brain:	n/a
7	chr2:148839265-148839315	HEEpiC	esophagus:	n/a
8	chr2:148839265-148839315	AG10803	skin:	n/a
9	chr2:148839265-148839315	SK-N-SH	brain:	n/a
10	chr2:148839265-148839315	SKMC	muscle:	n/a
11	chr2:148839265-148839315	HIPEpiC	eye:	n/a
12	chr2:148839265-148839315	AG04450	lung:	fetal
13	chr2:148839265-148839315	ovcar-3	ovarian:	n/a
14	chr2:148839265-148839315	MCF-7	breast:	n/a
15	chr2:148839265-148839315	HNPCEpiC	eye:	n/a
16	chr2:148839265-148839315	IMR90	lung:	fetal
17	chr2:148839265-148839315	PrEC	prostate:	n/a
18	chr2:148839265-148839315	ProgFib	skin:	n/a
19	chr2:148839265-148839315	PANC-1	pancreas:	n/a
20	chr2:148839265-148839315	T-47D	breast:	n/a
21	chr2:148839265-148839315	CMK	blood:	n/a
22	chr2:148839265-148839315	Hela-S3	cervix:	n/a
23	chr2:148839265-148839315	GM12891	blood:	n/a
24	chr2:148839265-148839315	SK-N-MC	brain:	n/a
25	chr2:148839265-148839315	Jurkat	blood:	n/a
26	chr2:148839265-148839315	HRPEpiC	eye:	n/a
27	chr2:148839265-148839315	HEK293	kidney:	embryo
28	chr2:148839265-148839315	Hepatocyte	liver:	n/a
29	chr2:148839265-148839315	AG09319	gingival:	n/a
30	chr2:148839265-148839315	HCT-116	colon:	n/a
31	chr2:148839265-148839315	GM12878	blood:	n/a
32	chr2:148839265-148839315	HCM	heart:	n/a
33	chr2:148839265-148839315	RPTEC	kidney:	n/a
34	chr2:148839265-148839315	SAEC	small airway:	n/a
35	chr2:148839265-148839315	BJ	skin:	n/a
36	chr2:148839265-148839315	AG04449	skin:	fetal
37	chr2:148839265-148839315	NHBE	bronchial:	n/a
38	chr2:148839265-148839315	HL-60	blood:	n/a
39	chr2:148839265-148839315	NH-A	brain:	n/a
40	chr2:148839265-148839315	HPAEpiC	pulmonary alveolar:	n/a
41	chr2:148839265-148839315	BE2_C	brain:	n/a
42	chr2:148839265-148839315	GM12892	blood:	n/a
43	chr2:148839265-148839315	HUVEC	blood vessel:	n/a
44	chr2:148839265-148839315	NT2-D1	testis:	n/a
45	chr2:148839265-148839315	HAEpiC	amniotic membrane:	n/a
46	chr2:148839265-148839315	HCF	heart:	n/a
47	chr2:148839265-148839315	HMEC	breast:	n/a
48	chr2:148839265-148839315	H1-hESC	embryonic stem cell:	embryo
49	chr2:148839265-148839315	GM19239	blood:	n/a
50	chr2:148839265-148839315	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:148839523..148841211-chr2:148842127..148844445,2	K562	blood:
2	chr2:148831814..148833866-chr2:148838337..148840088,2	K562	blood:
3	chr2:148790035..148791910-chr2:148820838..148823392,2	K562	blood:
4	chr2:148857706..148860074-chr2:148877712..148879777,2	K562	blood:
5	chr2:148839523..148841211-chr2:148842127..148844445,2	K562	blood:
6	chr2:148852527..148854088-chr2:148860647..148862456,2	MCF-7	breast:
7	chr2:148747178..148748066-chr2:148853587..148854325,3	MCF-7	breast:
8	chr2:148831814..148833866-chr2:148838337..148840088,2	K562	blood:
9	chr2:148818705..148820589-chr2:148824017..148825657,2	MCF-7	breast:
10	chr2:148859675..148863197-chr2:148868107..148869963,3	MCF-7	breast:
11	chr2:148826768..148827504-chr6:20350150..20350710,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBD5-1	chr2:148826141-148826162	NONHSAT074878

No data

Variant related genes	Relation type
MBD5	TF binding region
MBD5	CpG island

Extended variants
information (count: 1216 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1216 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117060233	chr2:148822127-148822128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560204192	chr2:148822129-148822130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186361766	chr2:148822179-148822180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78540662	chr2:148822249-148822250	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs191321423	chr2:148822303-148822304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564166989	chr2:148822307-148822308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182743228	chr2:148822339-148822340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549908652	chr2:148822352-148822353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569383891	chr2:148822405-148822406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13018478	chr2:148822452-148822453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186808103	chr2:148822469-148822470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151266976	chr2:148822510-148822511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567081667	chr2:148822516-148822517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371836860	chr2:148822565-148822566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34188126	chr2:148822599-148822600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140832251	chr2:148822610-148822611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558570602	chr2:148822617-148822618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576839183	chr2:148822623-148822624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537901708	chr2:148822642-148822643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556405204	chr2:148822690-148822691	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs574541007	chr2:148822696-148822697	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs150130072	chr2:148822704-148822705	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs146723896	chr2:148822726-148822727	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs374772724	chr2:148822737-148822738	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs572297260	chr2:148822756-148822757	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545805784	chr2:148822788-148822789	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs564027457	chr2:148822800-148822801	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs12472459	chr2:148822855-148822856	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543513736	chr2:148822944-148822945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561643033	chr2:148822952-148822953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369555793	chr2:148823045-148823046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530294465	chr2:148823079-148823080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548547968	chr2:148823095-148823096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190847990	chr2:148823096-148823097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183087961	chr2:148823123-148823124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140456162	chr2:148823126-148823127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200475499	chr2:148823134-148823135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570486272	chr2:148823193-148823194	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs145539618	chr2:148823233-148823234	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs556607094	chr2:148823258-148823259	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs568487448	chr2:148823317-148823318	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs187777073	chr2:148823319-148823320	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs137900042	chr2:148823359-148823360	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs372639319	chr2:148823428-148823429	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs193057016	chr2:148823437-148823438	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs147029018	chr2:148823451-148823452	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs376488462	chr2:148823518-148823519	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs149447747	chr2:148823641-148823642	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs185242919	chr2:148823673-148823674	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs576070797	chr2:148823707-148823708	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Breast cancer	22522925	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148779600-148844600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:148779800-148825600	Weak transcription	Left Ventricle	heart
3	chr2:148781800-148822800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:148781800-148829600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:148781800-148833400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:148795600-148843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:148799200-148827000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:148799400-148839000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:148799400-148844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:148800000-148844600	Weak transcription	Fetal Lung	lung
11	chr2:148805600-148846200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:148807000-148834000	Weak transcription	Brain Anterior Caudate	brain
13	chr2:148807000-148844600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:148807400-148833400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:148807800-148827800	Weak transcription	Brain Germinal Matrix	brain
16	chr2:148810800-148826000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:148812200-148828600	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:148812400-148831600	Weak transcription	Primary B cells from cord blood	blood
19	chr2:148812600-148823400	Weak transcription	Fetal Kidney	kidney
20	chr2:148812600-148838800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:148812600-148845000	Weak transcription	HSMM	muscle
22	chr2:148815400-148825600	Weak transcription	Psoas Muscle	Psoas
23	chr2:148816400-148839200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:148816600-148825200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr2:148821200-148857600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:148821600-148825200	Weak transcription	Small Intestine	intestine
27	chr2:148821600-148825800	Weak transcription	Primary T cells from cord blood	blood
28	chr2:148821600-148830600	Weak transcription	GM12878-XiMat	blood
29	chr2:148822800-148823000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:148822800-148825400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:148823000-148825600	Weak transcription	Pancreas	Pancrea
32	chr2:148823000-148839200	Weak transcription	Aorta	Aorta
33	chr2:148823400-148823600	Enhancers	Fetal Kidney	kidney
34	chr2:148824600-148832600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:148825200-148826200	Enhancers	Fetal Heart	heart
36	chr2:148825200-148827000	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr2:148825400-148826600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:148825600-148826000	Enhancers	Gastric	stomach
39	chr2:148825600-148826000	Enhancers	Left Ventricle	heart
40	chr2:148825600-148826200	Enhancers	Psoas Muscle	Psoas
41	chr2:148825600-148826200	Enhancers	Right Ventricle	heart
42	chr2:148825800-148826200	Strong transcription	Primary T cells from cord blood	blood
43	chr2:148826000-148826200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:148826000-148861000	Weak transcription	Left Ventricle	heart
45	chr2:148826200-148827400	Weak transcription	Fetal Heart	heart
46	chr2:148826200-148827400	Weak transcription	Right Ventricle	heart
47	chr2:148826200-148840600	Weak transcription	Psoas Muscle	Psoas
48	chr2:148826200-148842400	Weak transcription	Primary T cells from cord blood	blood
49	chr2:148826600-148844800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:148827400-148828000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links