Variant report

Variant	nsv874198
Chromosome Location	chr2:57987593-58068741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:270)
CpG islands
(count:183)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:58004102-58004565	K562	blood:	n/a	n/a
2	ATF2	chr2:58023643-58024051	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr2:58023548-58024173	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr2:58036301-58036756	GM12878	blood:	n/a	n/a
5	ATF2	chr2:58036295-58036793	GM12878	blood:	n/a	n/a
6	BATF	chr2:57987544-57987875	GM12878	blood:	n/a	n/a
7	BATF	chr2:57987600-57987899	GM12878	blood:	n/a	n/a
8	BCL11A	chr2:58023700-58023881	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL11A	chr2:58023688-58023959	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCLAF1	chr2:58036584-58036924	GM12878	blood:	n/a	n/a
11	CBX3	chr2:58025644-58026095	HCT-116	colon:	n/a	n/a
12	CCNT2	chr2:58003915-58004345	K562	blood:	n/a	chr2:58004252-58004272
13	CEBPB	chr2:58031044-58031333	HepG2	liver:	n/a	chr2:58031196-58031207 chr2:58031195-58031206 chr2:58031195-58031208
14	CEBPB	chr2:58047259-58047309	A549	lung:	n/a	n/a
15	CEBPB	chr2:58023708-58024097	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr2:57992915-57993112	HepG2	liver:	n/a	chr2:57993006-57993015 chr2:57993004-57993017 chr2:57993006-57993015 chr2:57993006-57993015
17	CEBPB	chr2:58047253-58047267	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPD	chr2:58003994-58004534	K562	blood:	n/a	n/a
19	CEBPD	chr2:58003956-58004557	K562	blood:	n/a	n/a
20	CHD1	chr2:58023946-58024228	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr2:58023614-58024021	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr2:58031275-58031297	GM13977	blood:	n/a	n/a
23	CTCF	chr2:57987700-57987850	GM12875	blood:	n/a	n/a
24	CTCF	chr2:57987720-57987870	GM12874	blood:	n/a	n/a
25	CTCF	chr2:57987740-57987890	GM12873	blood:	n/a	n/a
26	CTCF	chr2:57987741-57988019	GM12878	blood:	n/a	n/a
27	CTCF	chr2:57987600-57987750	GM12864	blood:	n/a	n/a
28	CTCF	chr2:57987781-57987884	GM12878	blood:	n/a	n/a
29	CTCF	chr2:58029757-58029767	K562	blood:	n/a	n/a
30	CTCF	chr2:57987780-57987930	Caco-2	colon:	n/a	n/a
31	CTCF	chr2:58029739-58029789	K562	blood:	n/a	n/a
32	CTCF	chr2:57987720-57987870	GM12872	blood:	n/a	n/a
33	CTCF	chr2:57986623-57988126	A549	lung:	n/a	chr2:57987139-57987160 chr2:57987138-57987154 chr2:57987137-57987155 chr2:57987142-57987150
34	CTCF	chr2:58029734-58029800	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr2:57987780-57987930	GM12871	blood:	n/a	n/a
36	CTCF	chr2:57987840-57987990	GM06990	blood:	n/a	n/a
37	CTCF	chr2:58029660-58029810	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:58029740-58029890	HMF	breast:	n/a	n/a
39	CTCF	chr2:58066960-58067110	HepG2	liver:	n/a	n/a
40	CTCF	chr2:57986812-57987611	HCT-116	colon:	n/a	chr2:57987139-57987160 chr2:57987138-57987154 chr2:57987137-57987155 chr2:57987142-57987150
41	CTCF	chr2:57992800-57992950	HepG2	liver:	n/a	n/a
42	CTCF	chr2:57987760-57987910	GM12864	blood:	n/a	n/a
43	CTCF	chr2:57987780-57987930	GM12872	blood:	n/a	n/a
44	CTCF	chr2:58046560-58046710	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr2:57987740-57987890	GM12874	blood:	n/a	n/a
46	CTCF	chr2:58029260-58029410	A549	lung:	n/a	n/a
47	CTCF	chr2:57989820-57989970	AG04449	skin:	n/a	n/a
48	CTCF	chr2:58029660-58029810	GM12866	blood:	n/a	n/a
49	CTCF	chr2:57987840-57987990	GM12871	blood:	n/a	n/a
50	CTCF	chr2:57987740-57987890	GM12869	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:58023996-58024046	PrEC	prostate:	n/a
2	chr2:58029503-58029553	NB4	blood:	n/a
3	chr2:58029565-58029615	NB4	blood:	n/a
4	chr2:58029503-58029553	Caco-2	colon:	n/a
5	chr2:58029503-58029553	HRCEpiC	kidney:	n/a
6	chr2:58029565-58029615	GM12892	blood:	n/a
7	chr2:58029565-58029615	HCM	heart:	n/a
8	chr2:58029565-58029615	HIPEpiC	eye:	n/a
9	chr2:58029503-58029553	HNPCEpiC	eye:	n/a
10	chr2:58029565-58029615	HRE	kidney:	n/a
11	chr2:58023996-58024046	SK-N-MC	brain:	n/a
12	chr2:58029565-58029615	Caco-2	colon:	n/a
13	chr2:58029503-58029553	SK-N-SH_RA	brain:	n/a
14	chr2:58029565-58029615	U87	brain:	n/a
15	chr2:58029565-58029615	PFSK-1	brain:	n/a
16	chr2:58023996-58024046	Hela-S3	cervix:	n/a
17	chr2:58029565-58029615	NH-A	brain:	n/a
18	chr2:58029565-58029615	GM19239	blood:	n/a
19	chr2:58029565-58029615	ProgFib	skin:	n/a
20	chr2:58023996-58024046	HCPEpiC	choroid plexus:	n/a
21	chr2:58029503-58029553	Hela-S3	cervix:	n/a
22	chr2:58023996-58024046	NB4	blood:	n/a
23	chr2:58029565-58029615	HL-60	blood:	n/a
24	chr2:58023996-58024046	MCF10A-Er-Src	breast:	n/a
25	chr2:58029503-58029553	AG04449	skin:	fetal
26	chr2:58023996-58024046	AG04449	skin:	fetal
27	chr2:58023996-58024046	A549	lung:	n/a
28	chr2:58023996-58024046	HUVEC	blood vessel:	n/a
29	chr2:58029503-58029553	SAEC	small airway:	n/a
30	chr2:58029565-58029615	HCPEpiC	choroid plexus:	n/a
31	chr2:58029503-58029553	GM12878	blood:	n/a
32	chr2:58023996-58024046	HRE	kidney:	n/a
33	chr2:58029503-58029553	SKMC	muscle:	n/a
34	chr2:58029503-58029553	AG09319	gingival:	n/a
35	chr2:58023996-58024046	HIPEpiC	eye:	n/a
36	chr2:58029503-58029553	PrEC	prostate:	n/a
37	chr2:58029503-58029553	PANC-1	pancreas:	n/a
38	chr2:58029503-58029553	HCT-116	colon:	n/a
39	chr2:58029503-58029553	SK-N-SH	brain:	n/a
40	chr2:58023996-58024046	HCF	heart:	n/a
41	chr2:58023996-58024046	HRCEpiC	kidney:	n/a
42	chr2:58023996-58024046	GM12892	blood:	n/a
43	chr2:58029565-58029615	HAEpiC	amniotic membrane:	n/a
44	chr2:58023996-58024046	HL-60	blood:	n/a
45	chr2:58023996-58024046	PANC-1	pancreas:	n/a
46	chr2:58023996-58024046	U87	brain:	n/a
47	chr2:58029565-58029615	AG10803	skin:	n/a
48	chr2:58029565-58029615	HCF	heart:	n/a
49	chr2:58029503-58029553	H1-hESC	embryonic stem cell:	embryo
50	chr2:58029503-58029553	BJ	skin:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:57986735..57987942-chr2:58674900..58675939,5	MCF-7	breast:
2	chr2:58025264..58027443-chr2:58030430..58032051,2	MCF-7	breast:
3	chr2:57988189..57989874-chr2:57990120..57992632,2	K562	blood:
4	chr2:58035263..58037581-chr2:58040221..58042453,2	K562	blood:
5	chr2:58067853..58070668-chr20:48552901..48554981,2	MCF-7	breast:
6	chr2:57988184..57990505-chr2:57993308..57996155,2	K562	blood:
7	chr2:57988184..57990505-chr2:57993308..57996155,2	K562	blood:
8	chr2:58025264..58027443-chr2:58030430..58032051,2	MCF-7	breast:
9	chr2:58003897..58005970-chr2:58009303..58012151,2	K562	blood:
10	chr2:58035263..58037581-chr2:58040221..58042453,2	K562	blood:
11	chr2:57986795..57987623-chr2:58674835..58675860,4	MCF-7	breast:
12	chr2:58003897..58005970-chr2:58009303..58012151,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK2-10	chr2:57991847-57992345	NONHSAT070842

No data

Variant related genes	Relation type
ENSG00000271615	TF binding region
ENSG00000271615	CpG island
ENSG00000124226	chromatin interactions
ENSG00000271615	chromatin interactions

Extended variants
information (count: 1824 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1824 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11682175	chr2:57987593-57987594	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs145979535	chr2:57987610-57987611	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs140111558	chr2:57987617-57987618	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561359734	chr2:57987636-57987637	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs75313744	chr2:57987651-57987652	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs528911494	chr2:57987664-57987665	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs547468791	chr2:57987704-57987705	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs62142405	chr2:57987749-57987750	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs565681881	chr2:57987759-57987760	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs143820856	chr2:57987774-57987775	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs551314975	chr2:57987787-57987788	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs569904982	chr2:57987794-57987795	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs67973994	chr2:57987808-57987809	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555758955	chr2:57987886-57987887	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs574085359	chr2:57987953-57987954	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs535064075	chr2:57987984-57987985	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs192608712	chr2:57987990-57987991	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs553421371	chr2:57987994-57987995	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs578060643	chr2:57988007-57988008	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs11125731	chr2:57988083-57988084	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184045759	chr2:57988182-57988183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11688767	chr2:57988194-57988195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188873721	chr2:57988256-57988257	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs150892187	chr2:57988276-57988277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs528852173	chr2:57988297-57988298	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547114721	chr2:57988305-57988306	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181628295	chr2:57988317-57988318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs139413982	chr2:57988378-57988379	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551521511	chr2:57988397-57988398	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569876743	chr2:57988409-57988410	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184687141	chr2:57988413-57988414	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549293488	chr2:57988500-57988501	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs56403013	chr2:57988502-57988503	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs535000147	chr2:57988504-57988505	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs34021154	chr2:57988534-57988535	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs190539968	chr2:57988561-57988562	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs62142406	chr2:57988582-57988583	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs538770375	chr2:57988622-57988623	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145191655	chr2:57988681-57988682	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372554244	chr2:57988725-57988726	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575432799	chr2:57988748-57988749	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs374249566	chr2:57988756-57988757	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182419446	chr2:57988817-57988818	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs554829952	chr2:57988829-57988830	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573231242	chr2:57988870-57988871	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs559326593	chr2:57988905-57988906	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540994602	chr2:57988912-57988913	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs6545662	chr2:57988918-57988919	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533005752	chr2:57988962-57988963	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185755810	chr2:57988965-57988966	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57985400-57988400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:57986200-57987800	Enhancers	Primary B cells from peripheral blood	blood
3	chr2:57986200-57987800	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr2:57986400-57987800	Active TSS	Brain Substantia Nigra	brain
5	chr2:57986400-57988000	Active TSS	Brain Angular Gyrus	brain
6	chr2:57986600-57987600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:57986600-57987600	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr2:57986600-57988000	Active TSS	Brain Cingulate Gyrus	brain
9	chr2:57986600-57988000	Enhancers	Fetal Lung	lung
10	chr2:57986800-57987600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:57986800-57987600	Active TSS	Brain Hippocampus Middle	brain
12	chr2:57986800-57987600	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr2:57986800-57987600	Active TSS	Rectal Smooth Muscle	rectum
14	chr2:57986800-57987600	Flanking Active TSS	Osteobl	bone
15	chr2:57986800-57987800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:57986800-57987800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:57986800-57987800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr2:57986800-57987800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:57986800-57987800	Enhancers	Fetal Heart	heart
20	chr2:57986800-57987800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr2:57987000-57987600	Active TSS	Primary T cells from cord blood	blood
22	chr2:57987000-57987600	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr2:57987000-57987800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:57987000-57987800	Enhancers	Primary B cells from cord blood	blood
25	chr2:57987000-57987800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr2:57987000-57987800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:57987000-57987800	Active TSS	Brain Anterior Caudate	brain
28	chr2:57987200-57987600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:57987200-57987600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr2:57987200-57987600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:57987200-57987600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:57987200-57987600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:57987200-57987600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr2:57987200-57987600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:57987200-57987600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:57987200-57987600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:57987200-57987600	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr2:57987200-57987600	Active TSS	Colonic Mucosa	Colon
39	chr2:57987200-57987600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr2:57987200-57987600	Flanking Active TSS	Fetal Muscle Leg	muscle
41	chr2:57987200-57987600	Flanking Active TSS	Fetal Thymus	thymus
42	chr2:57987200-57987600	Enhancers	Right Ventricle	heart
43	chr2:57987200-57987600	Flanking Bivalent TSS/Enh	HepG2	liver
44	chr2:57987200-57987600	Flanking Active TSS	HUVEC	blood vessel
45	chr2:57987200-57987600	Active TSS	NHDF-Ad	bronchial
46	chr2:57987200-57987800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:57987200-57987800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr2:57987200-57987800	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr2:57987200-57987800	Flanking Active TSS	Fetal Brain Male	brain
50	chr2:57987200-57987800	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links