Variant report

Variant	nsv1006362
Chromosome Location	chr1:246300348-246354658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1062)
CpG islands
(count:490)
Chromatin interactive
region (count:70)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1062 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:246351173-246351659	K562	blood:	n/a	n/a
2	ARID3A	chr1:246305649-246306059	K562	blood:	n/a	n/a
3	ARID3A	chr1:246332132-246332717	K562	blood:	n/a	n/a
4	ARID3A	chr1:246351102-246351709	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:246340416-246340426	K562	blood:	n/a	n/a
6	ARID3A	chr1:246329377-246329956	K562	blood:	n/a	n/a
7	ARID3A	chr1:246315871-246317843	K562	blood:	n/a	n/a
8	ARID3A	chr1:246339570-246339954	K562	blood:	n/a	n/a
9	ARID3A	chr1:246345414-246346141	K562	blood:	n/a	n/a
10	ARID3A	chr1:246339492-246340117	HepG2	liver:	n/a	n/a
11	ARID3A	chr1:246303129-246303329	HepG2	liver:	n/a	n/a
12	ARID3A	chr1:246333485-246334689	K562	blood:	n/a	n/a
13	ARID3A	chr1:246306858-246307142	K562	blood:	n/a	n/a
14	ARID3A	chr1:246303013-246303421	K562	blood:	n/a	n/a
15	ARID3A	chr1:246317239-246317589	HepG2	liver:	n/a	n/a
16	ATF1	chr1:246303038-246303366	K562	blood:	n/a	n/a
17	ATF1	chr1:246304350-246304649	K562	blood:	n/a	n/a
18	ATF1	chr1:246305671-246306307	K562	blood:	n/a	n/a
19	ATF1	chr1:246345391-246346206	K562	blood:	n/a	n/a
20	ATF1	chr1:246316226-246316752	K562	blood:	n/a	n/a
21	ATF1	chr1:246332388-246332644	K562	blood:	n/a	n/a
22	ATF1	chr1:246317155-246317561	K562	blood:	n/a	n/a
23	ATF1	chr1:246333942-246334272	K562	blood:	n/a	n/a
24	ATF1	chr1:246329490-246330061	K562	blood:	n/a	n/a
25	ATF3	chr1:246317068-246317567	K562	blood:	n/a	chr1:246317227-246317242
26	ATF3	chr1:246302791-246303544	HCT-116	colon:	n/a	n/a
27	ATF3	chr1:246302787-246303663	HCT-116	colon:	n/a	n/a
28	ATF3	chr1:246305592-246306031	K562	blood:	n/a	n/a
29	ATF3	chr1:246302969-246303439	A549	lung:	n/a	n/a
30	BACH1	chr1:246320102-246320303	K562	blood:	n/a	n/a
31	BACH1	chr1:246345481-246345569	K562	blood:	n/a	n/a
32	BACH1	chr1:246351235-246351409	K562	blood:	n/a	n/a
33	BACH1	chr1:246330166-246330170	K562	blood:	n/a	n/a
34	BACH1	chr1:246329773-246329841	K562	blood:	n/a	n/a
35	BACH1	chr1:246319997-246320403	H1-hESC	embryonic stem cell:	n/a	n/a
36	BATF	chr1:246335864-246336205	GM12878	blood:	n/a	n/a
37	BCL3	chr1:246302964-246303540	A549	lung:	n/a	n/a
38	BHLHE40	chr1:246345487-246345852	K562	blood:	n/a	n/a
39	BHLHE40	chr1:246351045-246351814	K562	blood:	n/a	n/a
40	BHLHE40	chr1:246332301-246332712	K562	blood:	n/a	n/a
41	BHLHE40	chr1:246344600-246344773	K562	blood:	n/a	n/a
42	BHLHE40	chr1:246338246-246338277	GM12878	blood:	n/a	n/a
43	BHLHE40	chr1:246350195-246350531	K562	blood:	n/a	n/a
44	BHLHE40	chr1:246329378-246329918	K562	blood:	n/a	n/a
45	BHLHE40	chr1:246314887-246314923	K562	blood:	n/a	n/a
46	BHLHE40	chr1:246317195-246317566	K562	blood:	n/a	n/a
47	BHLHE40	chr1:246316377-246316668	K562	blood:	n/a	n/a
48	BHLHE40	chr1:246339707-246340060	HepG2	liver:	n/a	n/a
49	BHLHE40	chr1:246305718-246306283	K562	blood:	n/a	n/a
50	BHLHE40	chr1:246315411-246315726	K562	blood:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:246310411-246310461	AG04450	lung:	fetal
2	chr1:246324811-246324861	U87	brain:	n/a
3	chr1:246310411-246310461	AG04450	lung:	fetal
4	chr1:246324811-246324861	U87	brain:	n/a
5	chr1:246304208-246304258	IMR90	lung:	fetal
6	chr1:246310411-246310461	HIPEpiC	eye:	n/a
7	chr1:246315928-246315978	MCF-7	breast:	n/a
8	chr1:246324811-246324861	GM12892	blood:	n/a
9	chr1:246310411-246310461	HRPEpiC	eye:	n/a
10	chr1:246320475-246320525	SK-N-MC	brain:	n/a
11	chr1:246320475-246320525	IMR90	lung:	fetal
12	chr1:246305399-246305449	AG10803	skin:	n/a
13	chr1:246305399-246305449	K562	blood:	n/a
14	chr1:246310349-246310399	HCM	heart:	n/a
15	chr1:246310485-246310535	HMEC	breast:	n/a
16	chr1:246310411-246310461	HL-60	blood:	n/a
17	chr1:246310485-246310535	LNCaP	prostate:	n/a
18	chr1:246310349-246310399	HMEC	breast:	n/a
19	chr1:246304208-246304258	U87	brain:	n/a
20	chr1:246324811-246324861	NB4	blood:	n/a
21	chr1:246324811-246324861	SK-N-MC	brain:	n/a
22	chr1:246324811-246324861	NHBE	bronchial:	n/a
23	chr1:246310411-246310461	SK-N-SH_RA	brain:	n/a
24	chr1:246310411-246310461	Jurkat	blood:	n/a
25	chr1:246304208-246304258	SAEC	small airway:	n/a
26	chr1:246324811-246324861	ovcar-3	ovarian:	n/a
27	chr1:246320475-246320525	GM12892	blood:	n/a
28	chr1:246310411-246310461	Hepatocyte	liver:	n/a
29	chr1:246305399-246305449	NHBE	bronchial:	n/a
30	chr1:246315928-246315978	Hepatocyte	liver:	n/a
31	chr1:246320475-246320525	SK-N-SH_RA	brain:	n/a
32	chr1:246310349-246310399	AG09309	skin:	n/a
33	chr1:246304208-246304258	HCM	heart:	n/a
34	chr1:246324811-246324861	CMK	blood:	n/a
35	chr1:246305399-246305449	MCF-7	breast:	n/a
36	chr1:246310411-246310461	AoSMC	blood vessel:	n/a
37	chr1:246310411-246310461	HMEC	breast:	n/a
38	chr1:246310349-246310399	HEK293	kidney:	embryo
39	chr1:246324811-246324861	HPAEpiC	pulmonary alveolar:	n/a
40	chr1:246310411-246310461	T-47D	breast:	n/a
41	chr1:246310485-246310535	HNPCEpiC	eye:	n/a
42	chr1:246315928-246315978	HRCEpiC	kidney:	n/a
43	chr1:246304208-246304258	HRCEpiC	kidney:	n/a
44	chr1:246320475-246320525	SAEC	small airway:	n/a
45	chr1:246320475-246320525	HUVEC	blood vessel:	n/a
46	chr1:246310349-246310399	AoSMC	blood vessel:	n/a
47	chr1:246310349-246310399	Hela-S3	cervix:	n/a
48	chr1:246305399-246305449	BE2_C	brain:	n/a
49	chr1:246324811-246324861	Hela-S3	cervix:	n/a
50	chr1:246310485-246310535	K562	blood:	n/a

(count:70 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:246283420..246285442-chr1:246309239..246311230,2	K562	blood:
2	chr1:246303495..246306229-chr1:246309475..246311302,2	MCF-7	breast:
3	chr1:246333304..246334819-chr1:246336998..246339159,2	K562	blood:
4	chr1:246325662..246328463-chr1:246355771..246358059,2	K562	blood:
5	chr1:246304167..246305671-chr1:246388175..246390464,2	K562	blood:
6	chr1:246339516..246341539-chr1:246347667..246350231,2	K562	blood:
7	chr1:246312948..246315744-chr1:246316397..246318467,2	MCF-7	breast:
8	chr1:246337373..246339084-chr1:246350131..246351894,2	K562	blood:
9	chr1:246278852..246281294-chr1:246310121..246311911,2	K562	blood:
10	chr1:246349919..246351757-chr1:246469177..246472168,2	K562	blood:
11	chr1:246303495..246306229-chr1:246309475..246311302,2	MCF-7	breast:
12	chr1:246353361..246355066-chr1:246367112..246369364,2	K562	blood:
13	chr1:246314921..246318931-chr1:246320889..246326868,8	K562	blood:
14	chr1:246316166..246317895-chr1:246320248..246322834,2	MCF-7	breast:
15	chr1:246297778..246300991-chr1:246304218..246307827,5	K562	blood:
16	chr1:246259009..246261177-chr1:246350968..246353474,2	K562	blood:
17	chr1:246323812..246327417-chr1:246344916..246347036,3	K562	blood:
18	chr1:246349442..246351799-chr1:246370064..246372967,2	K562	blood:
19	chr1:246318198..246320733-chr1:246329438..246331827,2	K562	blood:
20	chr1:246345662..246347517-chr1:246349747..246352735,2	K562	blood:
21	chr1:246314921..246318931-chr1:246320889..246326868,8	K562	blood:
22	chr1:246346688..246348274-chr1:246353285..246354827,2	K562	blood:
23	chr1:246316166..246317895-chr1:246320248..246322834,2	MCF-7	breast:
24	chr1:246303201..246305225-chr1:246319673..246321317,2	MCF-7	breast:
25	chr1:246342636..246345247-chr1:246351643..246353293,2	K562	blood:
26	chr1:246286174..246287745-chr1:246302664..246304849,2	K562	blood:
27	chr1:246323883..246327083-chr1:246329402..246331782,5	K562	blood:
28	chr1:246304167..246305874-chr1:246388175..246390883,2	K562	blood:
29	chr1:246323883..246327083-chr1:246329402..246331782,5	K562	blood:
30	chr1:246308927..246313479-chr1:246313623..246318049,5	K562	blood:
31	chr1:246295456..246296994-chr1:246303887..246305807,2	K562	blood:
32	chr1:246327940..246330525-chr1:246331503..246335844,5	K562	blood:
33	chr1:246343018..246344728-chr1:246345131..246347522,2	K562	blood:
34	chr1:246345857..246348884-chr1:246378191..246381575,3	K562	blood:
35	chr1:246313570..246315182-chr1:246317792..246320324,2	K562	blood:
36	chr1:246331853..246336135-chr1:246348494..246351528,4	K562	blood:
37	chr1:246297714..246299479-chr1:246301479..246303865,2	MCF-7	breast:
38	chr1:246330748..246332762-chr1:246362456..246364545,2	K562	blood:
39	chr1:246331853..246336135-chr1:246348494..246351528,4	K562	blood:
40	chr1:246312948..246315744-chr1:246316397..246318467,2	MCF-7	breast:
41	chr1:246331480..246334124-chr1:246374874..246378179,3	K562	blood:
42	chr1:246339928..246341615-chr1:246379189..246380773,2	K562	blood:
43	chr1:246349359..246351191-chr1:246361403..246363953,2	K562	blood:
44	chr1:246297778..246300991-chr1:246304218..246307827,5	K562	blood:
45	chr1:246331255..246333673-chr1:246367321..246369174,2	K562	blood:
46	chr1:246278749..246281660-chr1:246307722..246309243,2	K562	blood:
47	chr1:246292574..246294808-chr1:246305134..246306846,2	K562	blood:
48	chr1:246350132..246352497-chr1:246355470..246357930,3	K562	blood:
49	chr1:246313411..246315648-chr1:246336106..246337851,2	K562	blood:
50	chr1:246344344..246347615-chr1:246349712..246352735,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNST-4	chr1:246342080-246342506	NONHSAT010702

No data

Variant related genes	Relation type
CHCHD4P5	TF binding region
RNU6-1283P	TF binding region
CHCHD4P5	CpG island
RNU6-1283P	CpG island
ENSG00000185420	chromatin interactions
ENSG00000202184	chromatin interactions

Extended variants
information (count: 2348 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2348 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10802335	chr1:246300348-246300349	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576720237	chr1:246300350-246300351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138246921	chr1:246300371-246300372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575352421	chr1:246300373-246300374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574283646	chr1:246300400-246300401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111754912	chr1:246300406-246300407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541669482	chr1:246300435-246300436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547720970	chr1:246300453-246300454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563825084	chr1:246300474-246300475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533683360	chr1:246300475-246300476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550467939	chr1:246300528-246300529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115507605	chr1:246300583-246300584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183937478	chr1:246300635-246300636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555724854	chr1:246300639-246300640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566089856	chr1:246300647-246300648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369058957	chr1:246300722-246300723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541353991	chr1:246300792-246300793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529394082	chr1:246300797-246300798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559396778	chr1:246300806-246300807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12755887	chr1:246300874-246300875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187162887	chr1:246300883-246300884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562058230	chr1:246300884-246300885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12735424	chr1:246300892-246300893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149612035	chr1:246300972-246300973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543332186	chr1:246300990-246300991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529645327	chr1:246301012-246301013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371258242	chr1:246301035-246301036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573771122	chr1:246301036-246301037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115259236	chr1:246301064-246301065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559297298	chr1:246301074-246301075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376860895	chr1:246301075-246301076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191265899	chr1:246301133-246301134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143970441	chr1:246301147-246301148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148631907	chr1:246301198-246301199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533520155	chr1:246301199-246301200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7513426	chr1:246301203-246301204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183630455	chr1:246301204-246301205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529611932	chr1:246301293-246301294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7516264	chr1:246301315-246301316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs59022565	chr1:246301320-246301321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190224074	chr1:246301348-246301349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566052139	chr1:246301425-246301426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12736352	chr1:246301457-246301458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142709668	chr1:246301473-246301474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182441270	chr1:246301502-246301503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147342791	chr1:246301512-246301513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556727355	chr1:246301513-246301514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573643176	chr1:246301526-246301527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139775355	chr1:246301573-246301574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552727433	chr1:246301588-246301589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246271200-246302200	Weak transcription	Osteobl	bone
2	chr1:246272400-246312000	Weak transcription	Gastric	stomach
3	chr1:246274000-246301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:246277800-246327800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:246281000-246304000	Weak transcription	Primary T cells from cord blood	blood
6	chr1:246281200-246310800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:246281200-246311400	Weak transcription	Primary B cells from cord blood	blood
8	chr1:246281200-246311400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:246281800-246306400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:246285800-246302200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:246294800-246303000	Weak transcription	K562	blood
12	chr1:246299000-246302000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:246300600-246300800	Enhancers	A549	lung
14	chr1:246301000-246302200	Weak transcription	A549	lung
15	chr1:246301400-246301600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:246301400-246302600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:246301400-246303000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:246301400-246306600	Enhancers	NHLF	lung
19	chr1:246301600-246306600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:246302000-246303000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:246302000-246306600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:246302000-246306600	Enhancers	HMEC	breast
23	chr1:246302200-246302400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:246302200-246302400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:246302200-246302800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:246302200-246304000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:246302200-246304000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr1:246302200-246304000	Enhancers	HSMM	muscle
29	chr1:246302200-246306000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:246302200-246306200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:246302200-246306400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:246302200-246306400	Enhancers	NHEK	skin
33	chr1:246302200-246306600	Enhancers	A549	lung
34	chr1:246302200-246306600	Enhancers	NH-A	brain
35	chr1:246302200-246306600	Enhancers	NHDF-Ad	bronchial
36	chr1:246302200-246306600	Enhancers	Osteobl	bone
37	chr1:246302400-246302600	Enhancers	Placenta	Placenta
38	chr1:246302400-246303200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:246302400-246303400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:246302400-246304800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:246302400-246310200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:246302600-246303200	Weak transcription	Placenta	Placenta
43	chr1:246302600-246303400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:246302600-246303600	Enhancers	HUVEC	blood vessel
45	chr1:246302600-246303800	Enhancers	Hela-S3	cervix
46	chr1:246302600-246306200	Weak transcription	HepG2	liver
47	chr1:246302800-246303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:246302800-246303600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:246302800-246303600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:246302800-246303800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links