Variant report

Variant	nsv431713
Chromosome Location	chr2:134316522-134413604
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:134334204-134334594	HepG2	liver:	n/a	n/a
2	ATF1	chr2:134318802-134318942	K562	blood:	n/a	n/a
3	BHLHE40	chr2:134348127-134348457	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:134357949-134358221	HepG2	liver:	n/a	chr2:134358076-134358085 chr2:134358075-134358084 chr2:134358075-134358084 chr2:134358069-134358090 chr2:134358073-134358086
5	BHLHE40	chr2:134348631-134349043	HepG2	liver:	n/a	chr2:134348906-134348915 chr2:134348907-134348916 chr2:134348907-134348916 chr2:134348901-134348922 chr2:134348908-134348917
6	BHLHE40	chr2:134348833-134349033	K562	blood:	n/a	chr2:134348906-134348915 chr2:134348907-134348916 chr2:134348907-134348916 chr2:134348901-134348922 chr2:134348908-134348917
7	BHLHE40	chr2:134318760-134318986	GM12878	blood:	n/a	n/a
8	CBX3	chr2:134398921-134399586	HCT-116	colon:	n/a	n/a
9	CEBPB	chr2:134382543-134382851	HepG2	liver:	n/a	chr2:134382703-134382714 chr2:134382702-134382715
10	CEBPB	chr2:134391361-134391770	IMR90	lung:	n/a	chr2:134391515-134391532
11	CEBPB	chr2:134360733-134360971	A549	lung:	n/a	chr2:134360853-134360864
12	CEBPB	chr2:134395842-134395967	A549	lung:	n/a	chr2:134395891-134395902
13	CEBPB	chr2:134356823-134357160	HepG2	liver:	n/a	chr2:134356993-134357004 chr2:134357074-134357082
14	CEBPB	chr2:134395720-134396054	IMR90	lung:	n/a	chr2:134395891-134395902
15	CEBPB	chr2:134324586-134324858	IMR90	lung:	n/a	n/a
16	CEBPB	chr2:134395802-134395976	Hela-S3	cervix:	n/a	chr2:134395891-134395902
17	CEBPB	chr2:134360801-134360871	Hela-S3	cervix:	n/a	chr2:134360853-134360864
18	CEBPB	chr2:134345597-134345824	IMR90	lung:	n/a	n/a
19	CEBPB	chr2:134360675-134360978	MCF-7	breast:	n/a	chr2:134360853-134360864
20	CEBPB	chr2:134356692-134356729	A549	lung:	n/a	n/a
21	CEBPB	chr2:134360722-134360943	IMR90	lung:	n/a	chr2:134360853-134360864
22	CEBPB	chr2:134399284-134399541	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr2:134382552-134382837	A549	lung:	n/a	chr2:134382703-134382714 chr2:134382702-134382715
24	CEBPB	chr2:134360678-134360981	HepG2	liver:	n/a	chr2:134360853-134360864
25	CEBPB	chr2:134395716-134396032	HepG2	liver:	n/a	chr2:134395891-134395902
26	CEBPB	chr2:134395817-134396021	H1-hESC	embryonic stem cell:	n/a	chr2:134395891-134395902
27	CEBPB	chr2:134382554-134382834	IMR90	lung:	n/a	chr2:134382703-134382714 chr2:134382702-134382715
28	CEBPB	chr2:134349676-134350255	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr2:134339549-134339813	HepG2	liver:	n/a	chr2:134339553-134339565 chr2:134339691-134339702
30	CEBPB	chr2:134346210-134346223	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:134352377-134352446	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:134399040-134399646	MCF-7	breast:	n/a	n/a
33	CEBPB	chr2:134360831-134360922	H1-hESC	embryonic stem cell:	n/a	chr2:134360853-134360864
34	CEBPB	chr2:134363005-134363306	IMR90	lung:	n/a	chr2:134363162-134363175
35	CEBPB	chr2:134345620-134345801	HepG2	liver:	n/a	n/a
36	CEBPB	chr2:134338548-134338862	IMR90	lung:	n/a	n/a
37	CEBPB	chr2:134382622-134382822	Hela-S3	cervix:	n/a	chr2:134382703-134382714 chr2:134382702-134382715
38	CEBPD	chr2:134405627-134405916	K562	blood:	n/a	n/a
39	CTCF	chr2:134318780-134318930	HVMF	connective:	n/a	chr2:134318811-134318829 chr2:134318806-134318827
40	CTCF	chr2:134389639-134389784	MCF-7	breast:	n/a	chr2:134389711-134389721 chr2:134389706-134389724
41	CTCF	chr2:134322480-134322630	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr2:134325780-134325930	NHLF	lung:	n/a	n/a
43	CTCF	chr2:134318760-134318910	HMEC	breast:	n/a	chr2:134318811-134318829 chr2:134318806-134318827
44	CTCF	chr2:134325800-134325950	RPTEC	kidney:	n/a	n/a
45	CTCF	chr2:134339100-134339250	GM12865	blood:	n/a	n/a
46	CTCF	chr2:134318740-134318890	HAc	cerebellar:	n/a	chr2:134318811-134318829 chr2:134318806-134318827
47	CTCF	chr2:134318440-134318590	AG10803	skin:	n/a	n/a
48	CTCF	chr2:134399232-134399481	LNCaP	prostate:	n/a	chr2:134399315-134399323
49	CTCF	chr2:134325720-134325870	HAc	cerebellar:	n/a	n/a
50	CTCF	chr2:134399280-134399430	HCPEpiC	choroid plexus:	n/a	chr2:134399315-134399323

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:134326273-134326323	AG10803	skin:	n/a
2	chr2:134326172-134326222	RPTEC	kidney:	n/a
3	chr2:134324896-134324946	PrEC	prostate:	n/a
4	chr2:134391847-134391897	CMK	blood:	n/a
5	chr2:134326273-134326323	AG10803	skin:	n/a
6	chr2:134326172-134326222	RPTEC	kidney:	n/a
7	chr2:134324896-134324946	PrEC	prostate:	n/a
8	chr2:134391847-134391897	CMK	blood:	n/a
9	chr2:134357740-134357790	NT2-D1	testis:	n/a
10	chr2:134324896-134324946	MCF-7	breast:	n/a
11	chr2:134325873-134325923	AG04450	lung:	fetal
12	chr2:134368695-134368745	NB4	blood:	n/a
13	chr2:134326204-134326254	HIPEpiC	eye:	n/a
14	chr2:134357740-134357790	HCPEpiC	choroid plexus:	n/a
15	chr2:134326913-134326963	GM06990	blood:	n/a
16	chr2:134326913-134326963	GM12878	blood:	n/a
17	chr2:134391847-134391897	PANC-1	pancreas:	n/a
18	chr2:134333275-134333325	AG10803	skin:	n/a
19	chr2:134326204-134326254	MCF10A-Er-Src	breast:	n/a
20	chr2:134326172-134326222	HRCEpiC	kidney:	n/a
21	chr2:134326273-134326323	HCT-116	colon:	n/a
22	chr2:134326172-134326222	NHBE	bronchial:	n/a
23	chr2:134368695-134368745	PFSK-1	brain:	n/a
24	chr2:134326204-134326254	AG09309	skin:	n/a
25	chr2:134324896-134324946	Hepatocyte	liver:	n/a
26	chr2:134368695-134368745	SK-N-SH	brain:	n/a
27	chr2:134326017-134326067	BE2_C	brain:	n/a
28	chr2:134324896-134324946	HNPCEpiC	eye:	n/a
29	chr2:134326913-134326963	MCF10A-Er-Src	breast:	n/a
30	chr2:134347783-134347833	HIPEpiC	eye:	n/a
31	chr2:134360386-134360436	AG09319	gingival:	n/a
32	chr2:134347783-134347833	AG04449	skin:	fetal
33	chr2:134391847-134391897	SK-N-SH	brain:	n/a
34	chr2:134360386-134360436	GM12892	blood:	n/a
35	chr2:134329911-134329961	Caco-2	colon:	n/a
36	chr2:134326017-134326067	GM12891	blood:	n/a
37	chr2:134326055-134326105	NHDF-neo	bronchial:	n/a
38	chr2:134326273-134326323	NB4	blood:	n/a
39	chr2:134326172-134326222	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:134360386-134360436	GM06990	blood:	n/a
41	chr2:134324896-134324946	NH-A	brain:	n/a
42	chr2:134326055-134326105	ovcar-3	ovarian:	n/a
43	chr2:134318278-134318328	HRPEpiC	eye:	n/a
44	chr2:134326017-134326067	HAEpiC	amniotic membrane:	n/a
45	chr2:134326273-134326323	PFSK-1	brain:	n/a
46	chr2:134357740-134357790	HUVEC	blood vessel:	n/a
47	chr2:134357740-134357790	AG09309	skin:	n/a
48	chr2:134333275-134333325	BJ	skin:	n/a
49	chr2:134326204-134326254	HL-60	blood:	n/a
50	chr2:134326273-134326323	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:134355111..134357281-chr2:134363291..134366211,2	K562	blood:
2	chr2:134393103..134394680-chr2:134395761..134398691,2	MCF-7	breast:
3	chr2:134317582..134320224-chr2:134325327..134327285,2	K562	blood:
4	chr2:134178712..134179890-chr2:134318289..134319234,5	MCF-7	breast:
5	chr2:134404986..134407643-chr2:134417427..134419561,2	MCF-7	breast:
6	chr1:115534913..115537064-chr2:134331546..134333368,2	MCF-7	breast:
7	chr2:134325568..134327875-chr2:134328261..134331038,2	MCF-7	breast:
8	chr2:134277466..134278009-chr2:134318355..134319063,2	MCF-7	breast:
9	chr2:134386454..134389246-chr2:134397997..134400619,2	MCF-7	breast:
10	chr2:134393103..134394680-chr2:134395761..134398691,2	MCF-7	breast:
11	chr2:134365245..134367451-chr2:134398214..134401016,3	MCF-7	breast:
12	chr2:134386454..134389246-chr2:134397997..134400619,2	MCF-7	breast:
13	chr2:134020041..134020759-chr2:134398921..134399467,2	MCF-7	breast:
14	chr2:134383649..134385456-chr2:134399469..134401121,2	MCF-7	breast:
15	chr2:134365245..134367451-chr2:134398214..134401016,3	MCF-7	breast:
16	chr2:134317975..134320308-chr2:134325605..134328573,2	MCF-7	breast:
17	chr2:134383649..134385456-chr2:134399469..134401121,2	MCF-7	breast:
18	chr2:134263749..134265675-chr2:134399274..134401241,2	MCF-7	breast:
19	chr2:134355111..134357281-chr2:134363291..134366211,2	K562	blood:
20	chr2:133106241..133106888-chr2:134318328..134318856,2	K562	blood:
21	chr2:134020255..134021142-chr2:134318343..134319277,2	MCF-7	breast:
22	chr10:42529282..42529919-chr2:134391577..134392424,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MGAT5-5	chr2:134353662-134353970	NONHSAT074550

Variant related genes	Relation type
NCKAP5	TF binding region
RN7SKP93	TF binding region
NCKAP5	CpG island
RN7SKP93	CpG island
ENSG00000176771	chromatin interactions

Extended variants
information (count: 3598 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:3598 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1897433	chr2:134316522-134316523	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571631784	chr2:134316533-134316534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72849422	chr2:134316536-134316537	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs547936243	chr2:134316573-134316574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1897434	chr2:134316603-134316604	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191865931	chr2:134316604-134316605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183993024	chr2:134316642-134316643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576721656	chr2:134316655-134316656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537227525	chr2:134316668-134316669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559141341	chr2:134316681-134316682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79821557	chr2:134316720-134316721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540678244	chr2:134316722-134316723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147222576	chr2:134316735-134316736	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574083905	chr2:134316831-134316832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189833101	chr2:134316901-134316902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148682700	chr2:134316907-134316908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530866476	chr2:134316908-134316909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538163721	chr2:134316917-134316918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552201765	chr2:134316924-134316925	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193171725	chr2:134316957-134316958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141273533	chr2:134316968-134316969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547872768	chr2:134316988-134316989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566220331	chr2:134316996-134316997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536645541	chr2:134316999-134317000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111883690	chr2:134317018-134317019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150767199	chr2:134317022-134317023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6717644	chr2:134317070-134317071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568520864	chr2:134317071-134317072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558989497	chr2:134317072-134317073	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113783322	chr2:134317098-134317099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534925660	chr2:134317162-134317163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79207757	chr2:134317170-134317171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574218414	chr2:134317216-134317217	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs185445968	chr2:134317238-134317239	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs115505463	chr2:134317252-134317253	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs575150554	chr2:134317264-134317265	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs534496825	chr2:134317295-134317296	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs546034564	chr2:134317328-134317329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs190751213	chr2:134317349-134317350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs112993505	chr2:134317363-134317364	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs16826437	chr2:134317394-134317395	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs559864391	chr2:134317426-134317427	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530253837	chr2:134317430-134317431	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72849423	chr2:134317525-134317526	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs570005663	chr2:134317582-134317583	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs180830757	chr2:134317702-134317703	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149903819	chr2:134317714-134317715	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146440134	chr2:134317716-134317717	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185484448	chr2:134317738-134317739	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188672015	chr2:134317789-134317790	Weak transcription ZNF genes & repeats	Chromatin interactive 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
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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
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	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1439 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134290800-134324200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:134310400-134324000	Weak transcription	NHEK	skin
3	chr2:134311200-134323000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:134312000-134318400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:134312000-134323600	Weak transcription	NH-A	brain
6	chr2:134312600-134321800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:134314200-134318400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:134314400-134316600	Enhancers	Brain Hippocampus Middle	brain
9	chr2:134314400-134318000	Weak transcription	Hela-S3	cervix
10	chr2:134314600-134316600	Enhancers	Fetal Brain Female	brain
11	chr2:134315400-134316600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr2:134315600-134318200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:134315600-134323600	Weak transcription	NHLF	lung
14	chr2:134315600-134324600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:134315800-134322400	Weak transcription	NHDF-Ad	bronchial
16	chr2:134315800-134324000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:134315800-134324400	Weak transcription	Fetal Brain Male	brain
18	chr2:134316000-134317200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:134316000-134317400	Weak transcription	Brain Anterior Caudate	brain
20	chr2:134316000-134322600	Weak transcription	Fetal Heart	heart
21	chr2:134316000-134323400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:134316200-134317000	Weak transcription	Brain Germinal Matrix	brain
23	chr2:134316200-134318200	Weak transcription	Brain Substantia Nigra	brain
24	chr2:134316200-134320000	Weak transcription	Brain Angular Gyrus	brain
25	chr2:134316200-134322200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:134316400-134318200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:134316600-134318200	Weak transcription	Brain Hippocampus Middle	brain
28	chr2:134316600-134320000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:134317200-134318400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:134317400-134317600	Enhancers	Brain Anterior Caudate	brain
31	chr2:134317600-134318000	Weak transcription	Brain Anterior Caudate	brain
32	chr2:134318000-134318600	Enhancers	Brain Anterior Caudate	brain
33	chr2:134318000-134319200	Enhancers	Hela-S3	cervix
34	chr2:134318200-134318600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:134318200-134318600	Enhancers	Brain Cingulate Gyrus	brain
36	chr2:134318200-134319200	Enhancers	Brain Substantia Nigra	brain
37	chr2:134318200-134319400	Enhancers	Brain Hippocampus Middle	brain
38	chr2:134318200-134319400	Enhancers	Fetal Lung	lung
39	chr2:134318200-134319400	Enhancers	Stomach Mucosa	stomach
40	chr2:134318400-134318600	Enhancers	Fetal Stomach	stomach
41	chr2:134318400-134318800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:134318400-134318800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr2:134318400-134319600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:134318600-134322600	Weak transcription	Brain Anterior Caudate	brain
45	chr2:134318600-134322800	Weak transcription	Fetal Intestine Large	intestine
46	chr2:134318600-134323000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:134318600-134323200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:134318800-134319400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:134318800-134319400	Enhancers	Liver	Liver
50	chr2:134318800-134319400	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links