Variant report

Variant	nsv549567
Chromosome Location	chr1:247279802-247306833
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	ATF2	chr1:247282166-247282519	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr1:247282209-247282493	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr1:247289652-247289887	GM12878	blood:	n/a	n/a
4	BCL11A	chr1:247289560-247289964	GM12878	blood:	n/a	chr1:247289597-247289605 chr1:247289660-247289673 chr1:247289814-247289827
5	BCL11A	chr1:247290186-247290402	GM12878	blood:	n/a	n/a
6	BCL11A	chr1:247289613-247289860	GM12878	blood:	n/a	chr1:247289660-247289673 chr1:247289814-247289827
7	BHLHE40	chr1:247282190-247282604	HepG2	liver:	n/a	n/a
8	BHLHE40	chr1:247289249-247289254	GM12878	blood:	n/a	n/a
9	BHLHE40	chr1:247289527-247289878	HepG2	liver:	n/a	chr1:247289814-247289830 chr1:247289811-247289827
10	CBX3	chr1:247279956-247280480	K562	blood:	n/a	n/a
11	CBX3	chr1:247278814-247282541	K562	blood:	n/a	n/a
12	CBX3	chr1:247280516-247280801	K562	blood:	n/a	n/a
13	CBX3	chr1:247290086-247290284	K562	blood:	n/a	n/a
14	CBX3	chr1:247302741-247303171	K562	blood:	n/a	n/a
15	CBX3	chr1:247279022-247279825	K562	blood:	n/a	n/a
16	CBX3	chr1:247303822-247304172	K562	blood:	n/a	n/a
17	CBX3	chr1:247303207-247303461	K562	blood:	n/a	n/a
18	CBX3	chr1:247280963-247282452	K562	blood:	n/a	n/a
19	CBX3	chr1:247289444-247289894	K562	blood:	n/a	n/a
20	CCNT2	chr1:247305013-247305271	K562	blood:	n/a	n/a
21	CCNT2	chr1:247288386-247288451	K562	blood:	n/a	n/a
22	CEBPB	chr1:247288518-247288799	K562	blood:	n/a	chr1:247288661-247288672
23	CEBPB	chr1:247288527-247288747	HepG2	liver:	n/a	chr1:247288661-247288672
24	CEBPB	chr1:247288526-247288840	H1-hESC	embryonic stem cell:	n/a	chr1:247288661-247288672
25	CEBPD	chr1:247289599-247289921	K562	blood:	n/a	n/a
26	CEBPD	chr1:247290667-247291211	K562	blood:	n/a	n/a
27	CHD2	chr1:247282281-247282544	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr1:247285987-247286131	K562	blood:	n/a	n/a
29	CTCF	chr1:247288540-247288690	HCFaa	heart:	n/a	n/a
30	CTCF	chr1:247282279-247282390	HUVEC	blood vessel:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
31	CTCF	chr1:247282300-247282450	HEK293	kidney:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
32	CTCF	chr1:247282300-247282450	HRE	kidney:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
33	CTCF	chr1:247282300-247282450	RPTEC	kidney:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
34	CTCF	chr1:247282320-247282470	GM06990	blood:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
35	CTCF	chr1:247282300-247282450	NHEK	skin:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
36	CTCF	chr1:247290083-247290210	LNCaP	prostate:	n/a	n/a
37	CTCF	chr1:247282320-247282470	GM12871	blood:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
38	CTCF	chr1:247282304-247282378	GM13976	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
39	CTCF	chr1:247282280-247282430	AG09309	skin:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
40	CTCF	chr1:247282304-247282369	A549	lung:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
41	CTCF	chr1:247282565-247282567	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr1:247282280-247282430	AG04449	skin:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
43	CTCF	chr1:247288520-247288670	HAc	cerebellar:	n/a	n/a
44	CTCF	chr1:247282320-247282470	Hela-S3	cervix:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
45	CTCF	chr1:247282367-247282448	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:247282300-247282450	GM12872	blood:	n/a	chr1:247282312-247282330 chr1:247282308-247282317 chr1:247282314-247282327
47	CTCF	chr1:247282215-247282598	H1-hESC	embryonic stem cell:	n/a	chr1:247282440-247282461 chr1:247282312-247282330 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456 chr1:247282308-247282317 chr1:247282314-247282327
48	CTCF	chr1:247282320-247282470	GM12878	blood:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
49	CTCF	chr1:247282320-247282470	AG09319	gingival:	n/a	chr1:247282440-247282461 chr1:247282439-247282455 chr1:247282441-247282454 chr1:247282438-247282456
50	CTCF	chr1:247289974-247290271	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:247282458-247282508	ovcar-3	ovarian:	n/a
2	chr1:247282458-247282508	GM06990	blood:	n/a
3	chr1:247282458-247282508	HRCEpiC	kidney:	n/a
4	chr1:247282458-247282508	Jurkat	blood:	n/a
5	chr1:247291374-247291424	AG04450	lung:	fetal
6	chr1:247282458-247282508	BJ	skin:	n/a
7	chr1:247291374-247291424	GM12892	blood:	n/a
8	chr1:247291374-247291424	AoSMC	blood vessel:	n/a
9	chr1:247291374-247291424	IMR90	lung:	fetal
10	chr1:247285935-247285985	AG04450	lung:	fetal
11	chr1:247285935-247285985	PANC-1	pancreas:	n/a
12	chr1:247291374-247291424	HCT-116	colon:	n/a
13	chr1:247282458-247282508	PANC-1	pancreas:	n/a
14	chr1:247291374-247291424	Caco-2	colon:	n/a
15	chr1:247291374-247291424	CMK	blood:	n/a
16	chr1:247282458-247282508	AG10803	skin:	n/a
17	chr1:247291374-247291424	SK-N-SH	brain:	n/a
18	chr1:247282458-247282508	SK-N-MC	brain:	n/a
19	chr1:247285935-247285985	NHDF-neo	bronchial:	n/a
20	chr1:247285935-247285985	NT2-D1	testis:	n/a
21	chr1:247291374-247291424	HCM	heart:	n/a
22	chr1:247285935-247285985	HUVEC	blood vessel:	n/a
23	chr1:247291374-247291424	Hela-S3	cervix:	n/a
24	chr1:247291374-247291424	Hepatocyte	liver:	n/a
25	chr1:247291374-247291424	HMEC	breast:	n/a
26	chr1:247285935-247285985	HCT-116	colon:	n/a
27	chr1:247282458-247282508	HCT-116	colon:	n/a
28	chr1:247282458-247282508	NT2-D1	testis:	n/a
29	chr1:247285935-247285985	CMK	blood:	n/a
30	chr1:247285935-247285985	AG09319	gingival:	n/a
31	chr1:247282458-247282508	HCF	heart:	n/a
32	chr1:247291374-247291424	MCF10A-Er-Src	breast:	n/a
33	chr1:247291374-247291424	PANC-1	pancreas:	n/a
34	chr1:247291374-247291424	HAEpiC	amniotic membrane:	n/a
35	chr1:247282458-247282508	HRE	kidney:	n/a
36	chr1:247282458-247282508	AoSMC	blood vessel:	n/a
37	chr1:247285935-247285985	BJ	skin:	n/a
38	chr1:247285935-247285985	GM12891	blood:	n/a
39	chr1:247285935-247285985	HepG2	liver:	n/a
40	chr1:247291374-247291424	BJ	skin:	n/a
41	chr1:247285935-247285985	HRE	kidney:	n/a
42	chr1:247282458-247282508	LNCaP	prostate:	n/a
43	chr1:247285935-247285985	GM12878	blood:	n/a
44	chr1:247291374-247291424	ProgFib	skin:	n/a
45	chr1:247285935-247285985	RPTEC	kidney:	n/a
46	chr1:247282458-247282508	HCPEpiC	choroid plexus:	n/a
47	chr1:247282458-247282508	NHDF-neo	bronchial:	n/a
48	chr1:247285935-247285985	ProgFib	skin:	n/a
49	chr1:247285935-247285985	AG04449	skin:	fetal
50	chr1:247285935-247285985	HCF	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:247293627..247296153-chr1:247297059..247298639,2	MCF-7	breast:
2	chr1:247293627..247296153-chr1:247297059..247298639,2	MCF-7	breast:
3	chr1:247265068..247267248-chr1:247305560..247307197,2	MCF-7	breast:
4	chr1:247305865..247308781-chr1:247312082..247316125,4	K562	blood:
5	chr1:247273239..247275061-chr1:247277041..247280302,3	K562	blood:
6	chr1:247291347..247292905-chr1:247330458..247332447,2	K562	blood:
7	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:
8	chr1:247303971..247305642-chr1:247323338..247325925,2	K562	blood:
9	chr1:247291341..247292905-chr1:247330458..247334056,3	K562	blood:
10	chr1:247094086..247096067-chr1:247294057..247295936,2	MCF-7	breast:
11	chr1:247289906..247291409-chr1:247327499..247329050,2	K562	blood:
12	chr1:247241666..247243646-chr1:247278123..247279948,2	K562	blood:
13	chr1:247291385..247292961-chr1:247332715..247334283,2	MCF-7	breast:
14	chr1:247289044..247290928-chr1:247292410..247294436,2	MCF-7	breast:
15	chr1:247291043..247292946-chr1:247332755..247334621,3	MCF-7	breast:
16	chr1:247289823..247292787-chr1:247327556..247329184,2	K562	blood:
17	chr1:247270781..247273183-chr1:247283776..247285390,2	MCF-7	breast:
18	chr1:247303809..247306920-chr1:247310014..247313822,3	MCF-7	breast:
19	chr1:247304460..247307892-chr1:247308798..247311379,4	K562	blood:
20	chr1:247267372..247270234-chr1:247298107..247300511,2	MCF-7	breast:
21	chr1:247285727..247286228-chr3:81753505..81754005,2	NB4	blood:
22	chr1:247289580..247291356-chr1:247334098..247335622,2	MCF-7	breast:
23	chr1:247305778..247307279-chr20:47900377..47902023,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf229-2	chr1:247302018-247302059	NONHSAT010753
2	lnc-C1orf229-2	chr1:247303567-247304646	NONHSAT010755
3	lnc-C1orf229-2	chr1:247285278-247287173	NONHSAT010753
4	lnc-NLRP3-9	chr1:247282971-247283580	NONHSAT010752

Variant related genes	Relation type
FGFR3P6	TF binding region
C1orf229	TF binding region
FGFR3P6	CpG island
C1orf229	CpG island
ENSG00000196418	chromatin interactions
ENSG00000135747	chromatin interactions
ENSG00000188295	chromatin interactions
ENSG00000153207	chromatin interactions

Extended variants
information (count: 1110 )
Associated
traits (count: 30 )

Variant overlapped rSNPs/rCNVs (count:1110 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55815441	chr1:247279802-247279803	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs201706516	chr1:247279873-247279874	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs201274933	chr1:247279962-247279963	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs200698161	chr1:247280136-247280137	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs373975432	chr1:247280273-247280274	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs55851721	chr1:247280312-247280313	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs200448724	chr1:247280466-247280467	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs201450624	chr1:247280700-247280701	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs200371324	chr1:247281295-247281296	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566569058	chr1:247281328-247281329	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs1212570	chr1:247281510-247281511	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs1212898	chr1:247281525-247281526	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs1212899	chr1:247281602-247281603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs55787515	chr1:247281769-247281770	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs538005065	chr1:247281874-247281875	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs367889905	chr1:247281904-247281905	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs12748377	chr1:247281942-247281943	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371998562	chr1:247281950-247281951	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs12748386	chr1:247281963-247281964	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs12748393	chr1:247281982-247281983	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs1192845	chr1:247282077-247282078	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs555954667	chr1:247282104-247282105	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs12748601	chr1:247282123-247282124	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs567984731	chr1:247282150-247282151	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs376364523	chr1:247282169-247282170	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs113806528	chr1:247282180-247282181	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs372735385	chr1:247282201-247282202	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs12121338	chr1:247282226-247282227	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34942837	chr1:247282229-247282230	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs535340511	chr1:247282242-247282243	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs192072164	chr1:247282250-247282251	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs553683571	chr1:247282261-247282262	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs554781698	chr1:247282262-247282263	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs373941114	chr1:247282266-247282267	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs12121363	chr1:247282272-247282273	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12128943	chr1:247282291-247282292	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs576970648	chr1:247282304-247282305	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs181736145	chr1:247282310-247282311	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs200962231	chr1:247282326-247282327	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs186943660	chr1:247282368-247282369	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs190539161	chr1:247282370-247282371	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs544557610	chr1:247282382-247282383	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs545838259	chr1:247282393-247282394	Weak transcription Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs147483032	chr1:247282404-247282405	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs182380224	chr1:247282405-247282406	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs554658756	chr1:247282413-247282414	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs540388541	chr1:247282423-247282424	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs34957612	chr1:247282450-247282451	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs114944850	chr1:247282451-247282452	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs35518934	chr1:247282454-247282455	Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:30)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20435627	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	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

Chromatin state (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247276600-247284600	Weak transcription	Right Ventricle	heart
2	chr1:247276800-247283000	Weak transcription	Spleen	Spleen
3	chr1:247279000-247290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:247279200-247282400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:247282200-247282600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:247282200-247283600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:247282400-247283800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:247282600-247291000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:247283000-247283800	ZNF genes & repeats	Spleen	Spleen
10	chr1:247283400-247283600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:247283600-247283800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:247285400-247285600	Weak transcription	Right Ventricle	heart
13	chr1:247286400-247290800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:247286600-247288200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:247287000-247291000	Weak transcription	Hela-S3	cervix
16	chr1:247288000-247291000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:247288200-247288800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:247288200-247289200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:247288200-247291000	Weak transcription	HSMMtube	muscle
20	chr1:247288800-247289000	Enhancers	Fetal Muscle Trunk	muscle
21	chr1:247288800-247289200	ZNF genes & repeats	A549	lung
22	chr1:247288800-247294200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:247289000-247289200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:247289000-247289200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:247289000-247289200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:247289000-247289400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr1:247289000-247289400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:247289000-247289400	Enhancers	Dnd41	blood
29	chr1:247289200-247289400	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr1:247289200-247289400	Enhancers	Primary T cells fromperipheralblood	blood
31	chr1:247289200-247289400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:247289200-247289400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:247289200-247289400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:247289200-247290800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:247289200-247291000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:247289200-247291000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:247289200-247293200	Weak transcription	A549	lung
38	chr1:247289200-247294400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:247289400-247290800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:247289400-247291000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:247289400-247291000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr1:247289400-247291000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:247289400-247291000	Weak transcription	Dnd41	blood
44	chr1:247289400-247293600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:247289600-247290800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:247289800-247291000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:247290800-247291000	Enhancers	Primary B cells from cord blood	blood
48	chr1:247290800-247291000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:247290800-247291000	Enhancers	Adipose Nuclei	Adipose
50	chr1:247290800-247291000	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links