Variant report

Variant	esv3457757
Chromosome Location	chr2:55323788-55336864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:438)
CpG islands
(count:61)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:55333339-55333652	K562	blood:	n/a	n/a
2	ARID3A	chr2:55324829-55325004	K562	blood:	n/a	n/a
3	ARID3A	chr2:55327031-55327942	K562	blood:	n/a	chr2:55327796-55327812
4	ARID3A	chr2:55336364-55337044	HepG2	liver:	n/a	n/a
5	ATF1	chr2:55327022-55327751	K562	blood:	n/a	n/a
6	ATF1	chr2:55333344-55333688	K562	blood:	n/a	n/a
7	ATF3	chr2:55326937-55327390	K562	blood:	n/a	n/a
8	ATF3	chr2:55336357-55337150	A549	lung:	n/a	n/a
9	ATF3	chr2:55333276-55333643	K562	blood:	n/a	n/a
10	BCL3	chr2:55336285-55337161	A549	lung:	n/a	n/a
11	BCL3	chr2:55336395-55337177	A549	lung:	n/a	n/a
12	BRCA1	chr2:55326986-55327540	Hela-S3	cervix:	n/a	n/a
13	CCNT2	chr2:55324862-55325282	K562	blood:	n/a	n/a
14	CCNT2	chr2:55333403-55333632	K562	blood:	n/a	n/a
15	CCNT2	chr2:55324567-55324609	K562	blood:	n/a	n/a
16	CEBPB	chr2:55333241-55333703	K562	blood:	n/a	chr2:55333495-55333506
17	CEBPB	chr2:55327013-55327408	ECC-1	luminal epithelium:	n/a	chr2:55327205-55327216 chr2:55327204-55327215
18	CEBPB	chr2:55333309-55333691	K562	blood:	n/a	chr2:55333495-55333506
19	CEBPB	chr2:55326888-55327787	A549	lung:	n/a	chr2:55327566-55327579 chr2:55327205-55327216 chr2:55327204-55327215
20	CEBPB	chr2:55327042-55327431	ECC-1	luminal epithelium:	n/a	chr2:55327205-55327216 chr2:55327204-55327215
21	CEBPB	chr2:55333332-55333669	Hela-S3	cervix:	n/a	chr2:55333495-55333506
22	CEBPB	chr2:55326888-55328104	HCT-116	colon:	n/a	chr2:55327566-55327579 chr2:55327205-55327216 chr2:55327204-55327215
23	CEBPB	chr2:55327008-55328037	A549	lung:	n/a	chr2:55327566-55327579 chr2:55327205-55327216 chr2:55327204-55327215
24	CEBPB	chr2:55327081-55327354	H1-hESC	embryonic stem cell:	n/a	chr2:55327205-55327216 chr2:55327204-55327215
25	CEBPB	chr2:55333336-55333671	A549	lung:	n/a	chr2:55333495-55333506
26	CEBPB	chr2:55324294-55324461	A549	lung:	n/a	n/a
27	CEBPB	chr2:55326983-55327991	K562	blood:	n/a	chr2:55327566-55327579 chr2:55327205-55327216 chr2:55327204-55327215
28	CEBPB	chr2:55336461-55337156	A549	lung:	n/a	n/a
29	CEBPB	chr2:55326958-55327386	A549	lung:	n/a	chr2:55327205-55327216 chr2:55327204-55327215
30	CEBPB	chr2:55333333-55333660	HepG2	liver:	n/a	chr2:55333495-55333506
31	CEBPB	chr2:55324253-55324699	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr2:55326821-55328075	Hela-S3	cervix:	n/a	chr2:55327566-55327579 chr2:55327205-55327216 chr2:55327204-55327215
33	CEBPB	chr2:55333308-55333695	IMR90	lung:	n/a	chr2:55333495-55333506
34	CEBPB	chr2:55327027-55327400	HepG2	liver:	n/a	chr2:55327205-55327216 chr2:55327204-55327215
35	CEBPB	chr2:55333281-55333658	A549	lung:	n/a	chr2:55333495-55333506
36	CEBPB	chr2:55333289-55333667	K562	blood:	n/a	chr2:55333495-55333506
37	CEBPB	chr2:55328839-55329536	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr2:55326985-55328061	IMR90	lung:	n/a	chr2:55327566-55327579 chr2:55327205-55327216 chr2:55327204-55327215
39	CEBPB	chr2:55327013-55328046	K562	blood:	n/a	chr2:55327566-55327579 chr2:55327205-55327216 chr2:55327204-55327215
40	CEBPB	chr2:55329109-55329508	IMR90	lung:	n/a	n/a
41	CEBPB	chr2:55327096-55327286	K562	blood:	n/a	chr2:55327205-55327216 chr2:55327204-55327215
42	CEBPB	chr2:55327779-55327912	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:55333280-55333596	A549	lung:	n/a	chr2:55333495-55333506
44	CEBPD	chr2:55333255-55333641	K562	blood:	n/a	chr2:55333496-55333507
45	CEBPD	chr2:55333315-55333789	K562	blood:	n/a	chr2:55333496-55333507
46	CREB1	chr2:55336765-55337008	A549	lung:	n/a	n/a
47	CTCF	chr2:55335560-55335710	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr2:55331080-55331230	GM12873	blood:	n/a	n/a
49	CTCF	chr2:55335620-55335770	Caco-2	colon:	n/a	n/a
50	CTCF	chr2:55327721-55327723	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:55327371-55327421	BE2_C	brain:	n/a
2	chr2:55327371-55327421	HRPEpiC	eye:	n/a
3	chr2:55327371-55327421	T-47D	breast:	n/a
4	chr2:55327371-55327421	HEK293	kidney:	embryo
5	chr2:55327371-55327421	Jurkat	blood:	n/a
6	chr2:55327371-55327421	PrEC	prostate:	n/a
7	chr2:55327371-55327421	HNPCEpiC	eye:	n/a
8	chr2:55327371-55327421	SAEC	small airway:	n/a
9	chr2:55327371-55327421	HL-60	blood:	n/a
10	chr2:55327371-55327421	HEEpiC	esophagus:	n/a
11	chr2:55327371-55327421	PANC-1	pancreas:	n/a
12	chr2:55327371-55327421	BJ	skin:	n/a
13	chr2:55327371-55327421	NB4	blood:	n/a
14	chr2:55327371-55327421	CMK	blood:	n/a
15	chr2:55327371-55327421	HepG2	liver:	n/a
16	chr2:55327371-55327421	AG04449	skin:	fetal
17	chr2:55327371-55327421	GM19239	blood:	n/a
18	chr2:55327371-55327421	RPTEC	kidney:	n/a
19	chr2:55327371-55327421	HRE	kidney:	n/a
20	chr2:55327371-55327421	AG09319	gingival:	n/a
21	chr2:55327371-55327421	HCF	heart:	n/a
22	chr2:55327371-55327421	ovcar-3	ovarian:	n/a
23	chr2:55327371-55327421	HCT-116	colon:	n/a
24	chr2:55327371-55327421	HAEpiC	amniotic membrane:	n/a
25	chr2:55327371-55327421	SKMC	muscle:	n/a
26	chr2:55327371-55327421	IMR90	lung:	fetal
27	chr2:55327371-55327421	PFSK-1	brain:	n/a
28	chr2:55327371-55327421	AoSMC	blood vessel:	n/a
29	chr2:55327371-55327421	HPAEpiC	pulmonary alveolar:	n/a
30	chr2:55327371-55327421	GM12891	blood:	n/a
31	chr2:55327371-55327421	HUVEC	blood vessel:	n/a
32	chr2:55327371-55327421	Caco-2	colon:	n/a
33	chr2:55327371-55327421	HRCEpiC	kidney:	n/a
34	chr2:55327371-55327421	K562	blood:	n/a
35	chr2:55327371-55327421	AG10803	skin:	n/a
36	chr2:55327371-55327421	GM12892	blood:	n/a
37	chr2:55327371-55327421	GM12878	blood:	n/a
38	chr2:55327371-55327421	HIPEpiC	eye:	n/a
39	chr2:55327371-55327421	MCF-7	breast:	n/a
40	chr2:55327371-55327421	A549	lung:	n/a
41	chr2:55327371-55327421	H1-hESC	embryonic stem cell:	embryo
42	chr2:55327371-55327421	U87	brain:	n/a
43	chr2:55327371-55327421	ECC-1	luminal epithelium:	n/a
44	chr2:55327371-55327421	HMEC	breast:	n/a
45	chr2:55327371-55327421	ProgFib	skin:	n/a
46	chr2:55327371-55327421	Hepatocyte	liver:	n/a
47	chr2:55327371-55327421	NH-A	brain:	n/a
48	chr2:55327371-55327421	GM06990	blood:	n/a
49	chr2:55327371-55327421	AG04450	lung:	fetal
50	chr2:55327371-55327421	NHDF-neo	bronchial:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55326388..55330538-chr2:55335061..55337994,3	K562	blood:
2	chr2:55323307..55326609-chr2:55326695..55329491,3	K562	blood:
3	chr2:55322759..55325369-chr2:55329915..55332847,3	MCF-7	breast:
4	chr2:55275064..55278271-chr2:55336145..55339086,3	MCF-7	breast:
5	chr2:55274277..55278619-chr2:55322679..55324935,4	K562	blood:
6	chr2:55326463..55328844-chr2:55338475..55342420,4	K562	blood:
7	chr2:55323175..55325737-chr2:55325839..55328414,2	MCF-7	breast:
8	chr2:55273237..55279836-chr2:55336432..55344363,17	K562	blood:
9	chr2:55274277..55275806-chr2:55323435..55326407,2	K562	blood:
10	chr2:55322759..55325369-chr2:55329915..55332847,3	MCF-7	breast:
11	chr2:55323307..55326609-chr2:55326695..55329491,3	K562	blood:
12	chr2:55327279..55331330-chr2:55337574..55341174,5	K562	blood:
13	chr2:55276735..55279463-chr2:55327258..55330571,3	K562	blood:
14	chr2:55312676..55314647-chr2:55325733..55328474,2	K562	blood:
15	chr2:55275100..55278867-chr2:55332257..55335062,4	K562	blood:
16	chr2:55323175..55325737-chr2:55325839..55328414,2	MCF-7	breast:
17	chr2:55325626..55328074-chr2:55345685..55348277,2	K562	blood:
18	chr2:55273237..55280299-chr2:55335301..55344768,18	K562	blood:
19	chr2:55322057..55324846-chr2:55364507..55366032,2	K562	blood:
20	chr2:55331372..55335609-chr2:55337059..55340698,6	K562	blood:
21	chr2:55278300..55281080-chr2:55325086..55327233,3	K562	blood:
22	chr2:55332689..55335529-chr2:55338275..55340328,2	MCF-7	breast:
23	chr2:55276927..55278545-chr2:55322721..55325631,2	K562	blood:
24	chr2:55317970..55321435-chr2:55328777..55332297,3	K562	blood:
25	chr2:55323589..55325752-chr2:55333096..55335881,2	MCF-7	breast:
26	chr2:55287997..55290069-chr2:55324008..55326423,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000266376	TF binding region
ENSG00000266376	CpG island
ENSG00000115310	chromatin interactions
ENSG00000266376	chromatin interactions

Extended variants
information (count: 545 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148245487	chr2:55323792-55323793	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs533966620	chr2:55323800-55323801	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2968809	chr2:55323803-55323804	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs35716667	chr2:55323821-55323822	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567621907	chr2:55323828-55323829	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs536358870	chr2:55323849-55323850	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs193197116	chr2:55323856-55323857	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs56287888	chr2:55323883-55323884	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs544394167	chr2:55323928-55323929	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs564290718	chr2:55323993-55323994	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs117017256	chr2:55324045-55324046	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs76586450	chr2:55324047-55324048	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs559783143	chr2:55324136-55324137	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs528507427	chr2:55324163-55324164	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs183372042	chr2:55324171-55324172	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs141489336	chr2:55324174-55324175	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373578092	chr2:55324179-55324180	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs150846506	chr2:55324204-55324205	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550720388	chr2:55324205-55324206	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570713306	chr2:55324225-55324226	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs139899209	chr2:55324244-55324245	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs553292748	chr2:55324261-55324262	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs188388277	chr2:55324268-55324269	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs112604555	chr2:55324269-55324270	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs143693871	chr2:55324276-55324277	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs535133885	chr2:55324277-55324278	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555364816	chr2:55324315-55324316	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs377417592	chr2:55324326-55324327	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs13023249	chr2:55324358-55324359	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537739290	chr2:55324402-55324403	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs147252313	chr2:55324436-55324437	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs138975758	chr2:55324437-55324438	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs111622479	chr2:55324438-55324439	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs5831338	chr2:55324455-55324456	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs76491997	chr2:55324500-55324501	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs557803324	chr2:55324501-55324502	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs577545554	chr2:55324506-55324507	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs10206023	chr2:55324557-55324558	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs80351228	chr2:55324604-55324605	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577960904	chr2:55324698-55324699	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs184017346	chr2:55324706-55324707	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs560102084	chr2:55324732-55324733	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs114044844	chr2:55324765-55324766	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs529206581	chr2:55324766-55324767	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs541821943	chr2:55324781-55324782	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs79993697	chr2:55324785-55324786	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs542610483	chr2:55324844-55324845	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs530861884	chr2:55324849-55324850	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs140984927	chr2:55324865-55324866	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs149826639	chr2:55324893-55324894	Enhancers Weak transcription	Chromatin interactive region	2 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
Williams Syndrome	20824207	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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:543 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55316000-55323800	Weak transcription	NHDF-Ad	bronchial
2	chr2:55316800-55327200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:55317200-55323800	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:55318400-55329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:55319800-55324600	Weak transcription	Fetal Intestine Small	intestine
6	chr2:55320000-55327200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:55320200-55323800	Weak transcription	Stomach Mucosa	stomach
8	chr2:55320400-55323800	Weak transcription	Psoas Muscle	Psoas
9	chr2:55321000-55323800	Weak transcription	NH-A	brain
10	chr2:55321000-55324000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:55321000-55324600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:55321000-55326600	Weak transcription	HMEC	breast
13	chr2:55321400-55326400	Weak transcription	Primary B cells from cord blood	blood
14	chr2:55321600-55323800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:55321600-55323800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:55321600-55323800	Weak transcription	A549	lung
17	chr2:55321600-55325000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:55321600-55327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:55321600-55339400	Weak transcription	Thymus	Thymus
20	chr2:55321800-55324000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:55321800-55324600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:55321800-55324600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:55321800-55336400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:55322000-55323800	Weak transcription	Brain Angular Gyrus	brain
25	chr2:55322000-55323800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:55322000-55323800	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:55322000-55323800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:55322000-55323800	Weak transcription	Brain Substantia Nigra	brain
29	chr2:55322000-55324000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:55322000-55324200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:55322000-55324600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:55322000-55324800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:55322000-55326600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:55322000-55326600	Weak transcription	NHEK	skin
35	chr2:55322200-55323800	Weak transcription	Brain Anterior Caudate	brain
36	chr2:55322200-55323800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:55322200-55325200	Enhancers	Ovary	ovary
38	chr2:55322400-55323800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:55322600-55327200	Enhancers	HUVEC	blood vessel
40	chr2:55322600-55327800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:55322800-55327200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:55322800-55327200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:55322800-55327200	Enhancers	Adipose Nuclei	Adipose
44	chr2:55323000-55325200	Enhancers	Pancreas	Pancrea
45	chr2:55323200-55323800	Weak transcription	Lung	lung
46	chr2:55323400-55324600	Enhancers	Right Ventricle	heart
47	chr2:55323600-55323800	Active TSS	Stomach Smooth Muscle	stomach
48	chr2:55323600-55325200	Enhancers	Fetal Brain Male	brain
49	chr2:55323600-55325200	Enhancers	Fetal Heart	heart
50	chr2:55323600-55325200	Enhancers	Rectal Smooth Muscle	rectum

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