Variant report

Variant	nsv3543
Chromosome Location	chr1:172323563-172334586
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:711)
CpG islands
(count:122)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:172329576-172330030	HepG2	liver:	n/a	n/a
2	ATF1	chr1:172327616-172327774	K562	blood:	n/a	n/a
3	ATF1	chr1:172326813-172326817	K562	blood:	n/a	n/a
4	ATF1	chr1:172325809-172326009	K562	blood:	n/a	n/a
5	ATF2	chr1:172327285-172328349	GM12878	blood:	n/a	n/a
6	ATF2	chr1:172329568-172330003	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr1:172327295-172328330	GM12878	blood:	n/a	n/a
8	ATF3	chr1:172327521-172328530	A549	lung:	n/a	n/a
9	ATF3	chr1:172327412-172328569	A549	lung:	n/a	n/a
10	ATF3	chr1:172325625-172326173	A549	lung:	n/a	n/a
11	BATF	chr1:172327458-172327926	GM12878	blood:	n/a	n/a
12	BATF	chr1:172327447-172328227	GM12878	blood:	n/a	chr1:172328086-172328096 chr1:172328085-172328096
13	BATF	chr1:172327946-172328297	GM12878	blood:	n/a	chr1:172328086-172328096 chr1:172328085-172328096
14	BCL11A	chr1:172327952-172328245	GM12878	blood:	n/a	chr1:172328084-172328093 chr1:172328085-172328094
15	BCL11A	chr1:172327495-172327895	GM12878	blood:	n/a	n/a
16	BCL11A	chr1:172329652-172329852	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr1:172327279-172329216	A549	lung:	n/a	chr1:172328084-172328093 chr1:172328085-172328094
18	BCL3	chr1:172325625-172326253	A549	lung:	n/a	n/a
19	BCL3	chr1:172327472-172327979	GM12878	blood:	n/a	n/a
20	BCL3	chr1:172327352-172328924	A549	lung:	n/a	chr1:172328084-172328093 chr1:172328085-172328094
21	BCLAF1	chr1:172327406-172327954	GM12878	blood:	n/a	n/a
22	BCLAF1	chr1:172327334-172328315	GM12878	blood:	n/a	chr1:172328084-172328093 chr1:172328085-172328094
23	BHLHE40	chr1:172328717-172329081	A549	lung:	n/a	n/a
24	BHLHE40	chr1:172327058-172328277	GM12878	blood:	n/a	n/a
25	BHLHE40	chr1:172328043-172328243	A549	lung:	n/a	n/a
26	BRCA1	chr1:172327442-172328518	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr1:172329632-172329885	HepG2	liver:	n/a	n/a
28	CEBPB	chr1:172328000-172328604	MCF-7	breast:	n/a	n/a
29	CEBPB	chr1:172329531-172330014	MCF-7	breast:	n/a	n/a
30	CEBPB	chr1:172328272-172328534	HepG2	liver:	n/a	n/a
31	CEBPB	chr1:172328714-172329206	ECC-1	luminal epithelium:	n/a	n/a
32	CEBPB	chr1:172329590-172330015	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPB	chr1:172328116-172328582	ECC-1	luminal epithelium:	n/a	n/a
34	CEBPB	chr1:172329573-172329988	HepG2	liver:	n/a	n/a
35	CEBPB	chr1:172325637-172326200	A549	lung:	n/a	n/a
36	CEBPB	chr1:172327269-172328582	IMR90	lung:	n/a	chr1:172327367-172327378
37	CEBPB	chr1:172327490-172327824	GM12878	blood:	n/a	n/a
38	CEBPB	chr1:172329637-172330029	HepG2	liver:	n/a	n/a
39	CEBPB	chr1:172327557-172328065	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr1:172327919-172328587	A549	lung:	n/a	n/a
41	CEBPB	chr1:172329613-172329912	IMR90	lung:	n/a	n/a
42	CEBPB	chr1:172327195-172329238	A549	lung:	n/a	chr1:172327367-172327378
43	CEBPB	chr1:172329587-172330034	HepG2	liver:	n/a	n/a
44	CEBPB	chr1:172329650-172330042	ECC-1	luminal epithelium:	n/a	n/a
45	CEBPB	chr1:172327283-172327531	A549	lung:	n/a	chr1:172327367-172327378
46	CEBPB	chr1:172328826-172329213	ECC-1	luminal epithelium:	n/a	n/a
47	CEBPB	chr1:172329592-172329959	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr1:172329604-172329966	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr1:172327722-172328651	HCT-116	colon:	n/a	n/a
50	CEBPB	chr1:172327251-172329229	Hela-S3	cervix:	n/a	chr1:172327367-172327378

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:172330400-172330450	HCPEpiC	choroid plexus:	n/a
2	chr1:172330400-172330450	SK-N-MC	brain:	n/a
3	chr1:172330400-172330450	GM06990	blood:	n/a
4	chr1:172330400-172330450	HCT-116	colon:	n/a
5	chr1:172330400-172330450	HUVEC	blood vessel:	n/a
6	chr1:172328377-172328427	HIPEpiC	eye:	n/a
7	chr1:172330400-172330450	HIPEpiC	eye:	n/a
8	chr1:172328377-172328427	RPTEC	kidney:	n/a
9	chr1:172328377-172328427	HRPEpiC	eye:	n/a
10	chr1:172330400-172330450	Hepatocyte	liver:	n/a
11	chr1:172330400-172330450	HL-60	blood:	n/a
12	chr1:172330400-172330450	PrEC	prostate:	n/a
13	chr1:172330400-172330450	HMEC	breast:	n/a
14	chr1:172328377-172328427	AG09319	gingival:	n/a
15	chr1:172328377-172328427	ECC-1	luminal epithelium:	n/a
16	chr1:172330400-172330450	AoSMC	blood vessel:	n/a
17	chr1:172330400-172330450	AG09319	gingival:	n/a
18	chr1:172330400-172330450	AG10803	skin:	n/a
19	chr1:172328377-172328427	HAEpiC	amniotic membrane:	n/a
20	chr1:172330400-172330450	HNPCEpiC	eye:	n/a
21	chr1:172328377-172328427	HPAEpiC	pulmonary alveolar:	n/a
22	chr1:172330400-172330450	GM19239	blood:	n/a
23	chr1:172328377-172328427	HCM	heart:	n/a
24	chr1:172328377-172328427	BJ	skin:	n/a
25	chr1:172328377-172328427	HUVEC	blood vessel:	n/a
26	chr1:172330400-172330450	PANC-1	pancreas:	n/a
27	chr1:172328377-172328427	GM12891	blood:	n/a
28	chr1:172328377-172328427	BE2_C	brain:	n/a
29	chr1:172328377-172328427	Hepatocyte	liver:	n/a
30	chr1:172328377-172328427	LNCaP	prostate:	n/a
31	chr1:172328377-172328427	Jurkat	blood:	n/a
32	chr1:172328377-172328427	HL-60	blood:	n/a
33	chr1:172328377-172328427	GM12878	blood:	n/a
34	chr1:172328377-172328427	HEEpiC	esophagus:	n/a
35	chr1:172330400-172330450	GM12878	blood:	n/a
36	chr1:172328377-172328427	AG04449	skin:	fetal
37	chr1:172330400-172330450	SK-N-SH_RA	brain:	n/a
38	chr1:172330400-172330450	HepG2	liver:	n/a
39	chr1:172330400-172330450	U87	brain:	n/a
40	chr1:172328377-172328427	SK-N-MC	brain:	n/a
41	chr1:172330400-172330450	HRPEpiC	eye:	n/a
42	chr1:172328377-172328427	A549	lung:	n/a
43	chr1:172330400-172330450	H1-hESC	embryonic stem cell:	embryo
44	chr1:172330400-172330450	HRCEpiC	kidney:	n/a
45	chr1:172328377-172328427	PANC-1	pancreas:	n/a
46	chr1:172328377-172328427	MCF10A-Er-Src	breast:	n/a
47	chr1:172328377-172328427	MCF-7	breast:	n/a
48	chr1:172328377-172328427	PFSK-1	brain:	n/a
49	chr1:172330400-172330450	HAEpiC	amniotic membrane:	n/a
50	chr1:172330400-172330450	PFSK-1	brain:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:172322016..172323683-chr1:172323746..172325652,2	MCF-7	breast:
2	chr1:172224104..172227089-chr1:172327866..172331463,5	MCF-7	breast:
3	chr1:172184147..172186042-chr1:172327490..172329598,2	MCF-7	breast:
4	chr1:172293750..172296257-chr1:172325539..172327779,3	MCF-7	breast:
5	chr1:172326973..172328918-chr1:172367040..172369212,2	MCF-7	breast:
6	chr1:172221315..172226024-chr1:172325981..172331432,5	MCF-7	breast:
7	chr1:172291112..172293715-chr1:172326566..172328931,2	MCF-7	breast:
8	chr1:171981195..171983142-chr1:172327626..172330465,2	MCF-7	breast:
9	chr1:172147006..172149581-chr1:172326946..172329408,2	MCF-7	breast:
10	chr1:172327243..172328745-chr1:172418219..172419831,2	MCF-7	breast:
11	chr1:172294512..172295506-chr1:172329394..172330284,2	MCF-7	breast:
12	chr1:171972033..171974516-chr1:172324931..172327450,2	MCF-7	breast:
13	chr1:172075448..172077009-chr1:172323727..172325300,2	MCF-7	breast:
14	chr1:172327222..172329054-chr1:172342258..172344982,2	MCF-7	breast:
15	chr1:172330690..172333183-chr1:172340261..172343230,2	K562	blood:
16	chr1:172247437..172249233-chr1:172327614..172329827,2	MCF-7	breast:
17	chr1:172327680..172330506-chr1:172362622..172365988,3	MCF-7	breast:
18	chr1:172313803..172316128-chr1:172326731..172328991,2	MCF-7	breast:
19	chr1:172324502..172327438-chr1:172328565..172330761,2	K562	blood:
20	chr1:172318035..172320026-chr1:172322027..172324198,2	K562	blood:
21	chr1:172322016..172323683-chr1:172323746..172325652,2	MCF-7	breast:
22	chr1:172057858..172060800-chr1:172327369..172328971,2	MCF-7	breast:
23	chr1:172319507..172323495-chr1:172324646..172327530,4	MCF-7	breast:
24	chr1:172315289..172319406-chr1:172322030..172325808,4	MCF-7	breast:
25	chr1:172324502..172327438-chr1:172328565..172330761,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-157P	TF binding region
RNU6-157P	CpG island
ENSG00000252354	chromatin interactions

Extended variants
information (count: 375 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150529729	chr1:172323577-172323578	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs367878035	chr1:172323578-172323579	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553759954	chr1:172323625-172323626	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537417525	chr1:172323643-172323644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs74752320	chr1:172323657-172323658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs199526676	chr1:172323664-172323665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527922335	chr1:172323734-172323735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75410040	chr1:172323735-172323736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79798629	chr1:172323742-172323743	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77612031	chr1:172323743-172323744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187602192	chr1:172323757-172323758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558645323	chr1:172323781-172323782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181522971	chr1:172323824-172323825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534515507	chr1:172323833-172323834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11579844	chr1:172323884-172323885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147245793	chr1:172323900-172323901	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574575310	chr1:172323944-172323945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78878313	chr1:172323953-172323954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75333412	chr1:172323954-172323955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541789281	chr1:172323955-172323956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs114844490	chr1:172324014-172324015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575148382	chr1:172324022-172324023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140668802	chr1:172324088-172324089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116331902	chr1:172324111-172324112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536395921	chr1:172324114-172324115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs9425570	chr1:172324139-172324140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564173304	chr1:172324177-172324178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs151233850	chr1:172324194-172324195	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576995987	chr1:172324223-172324224	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs139188180	chr1:172324224-172324225	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560016214	chr1:172324247-172324248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149940374	chr1:172324324-172324325	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559049328	chr1:172324350-172324351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541244173	chr1:172324368-172324369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561221518	chr1:172324380-172324381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs139153206	chr1:172324381-172324382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548616564	chr1:172324463-172324464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187042776	chr1:172324473-172324474	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575647438	chr1:172324517-172324518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12143377	chr1:172324535-172324536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs189420342	chr1:172324540-172324541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181391573	chr1:172324574-172324575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186532300	chr1:172324595-172324596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553031179	chr1:172324612-172324613	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189684646	chr1:172324644-172324645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370780765	chr1:172324762-172324763	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78131837	chr1:172324781-172324782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530082952	chr1:172324857-172324858	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556996812	chr1:172324911-172324912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12117159	chr1:172324915-172324916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172313400-172327000	Weak transcription	Aorta	Aorta
2	chr1:172320800-172332800	Enhancers	Fetal Intestine Small	intestine
3	chr1:172321200-172324200	Enhancers	GM12878-XiMat	blood
4	chr1:172321200-172325000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:172321200-172325000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:172321200-172326400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:172321200-172327000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:172321200-172327200	Weak transcription	Right Atrium	heart
9	chr1:172321200-172329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:172321400-172324000	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:172321400-172324200	Enhancers	Hela-S3	cervix
12	chr1:172321400-172325000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:172321400-172325200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:172321400-172325600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:172321400-172326600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:172321400-172327000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:172321400-172327000	Weak transcription	Small Intestine	intestine
18	chr1:172321400-172327200	Weak transcription	Ovary	ovary
19	chr1:172321600-172325000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:172321600-172327200	Weak transcription	Fetal Heart	heart
21	chr1:172322000-172325200	Weak transcription	HUVEC	blood vessel
22	chr1:172322000-172325600	Weak transcription	NHDF-Ad	bronchial
23	chr1:172322000-172327000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:172322000-172327000	Weak transcription	Fetal Stomach	stomach
25	chr1:172322200-172325200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:172322200-172325200	Weak transcription	HSMM	muscle
27	chr1:172322200-172325800	Weak transcription	Fetal Lung	lung
28	chr1:172322400-172324800	Weak transcription	Osteobl	bone
29	chr1:172322400-172325000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:172322400-172325000	Weak transcription	Fetal Kidney	kidney
31	chr1:172322400-172325200	Weak transcription	HMEC	breast
32	chr1:172322400-172325400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:172322400-172325800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:172322400-172326000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:172322400-172326000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:172322400-172326400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:172322400-172327000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:172322400-172327000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:172322400-172327000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr1:172322400-172327600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:172322400-172329600	Weak transcription	Gastric	stomach
42	chr1:172322400-172331000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:172322600-172325200	Weak transcription	NHEK	skin
44	chr1:172322600-172325800	Weak transcription	NHLF	lung
45	chr1:172322600-172327800	Weak transcription	Psoas Muscle	Psoas
46	chr1:172322600-172328000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:172322800-172324200	Enhancers	HSMMtube	muscle
48	chr1:172323000-172323800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:172323000-172324000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:172323000-172324200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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