Variant report

Variant	rs55657505
Chromosome Location	chr5:127874779-127874780
allele	A/T
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	POLR2A	chr5:127873698-127875045	A549	lung:	n/a	n/a
2	TCF12	chr5:127873142-127874965	A549	lung:	n/a	chr5:127874714-127874722
3	POLR2A	chr5:127874658-127875212	ProgFib	skin:	n/a	n/a
4	MAZ	chr5:127872770-127875254	IMR90	lung:	n/a	chr5:127874030-127874039
5	POLR2A	chr5:127874104-127875124	H1-hESC	embryonic stem cell:	n/a	n/a
6	TBP	chr5:127873148-127875197	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:127873632-127875183	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr5:127872912-127875135	NB4	blood:	n/a	chr5:127874030-127874039
9	TAF1	chr5:127874366-127875032	A549	lung:	n/a	n/a
10	RAD21	chr5:127874283-127874951	IMR90	lung:	n/a	n/a
11	ZBTB7A	chr5:127873821-127875102	ECC-1	luminal epithelium:	n/a	chr5:127874012-127874021 chr5:127874376-127874385
12	SP1	chr5:127873646-127875086	A549	lung:	n/a	chr5:127874513-127874527 chr5:127874348-127874359 chr5:127874518-127874532 chr5:127874345-127874359 chr5:127874405-127874426 chr5:127874519-127874528
13	CTCF	chr5:127874740-127874890	HMF	breast:	n/a	n/a
14	POLR2A	chr5:127872030-127875377	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:127873347-127874984	HUVEC	blood vessel:	n/a	n/a
16	SP1	chr5:127873718-127874937	A549	lung:	n/a	chr5:127874513-127874527 chr5:127874348-127874359 chr5:127874518-127874532 chr5:127874345-127874359 chr5:127874405-127874426 chr5:127874519-127874528
17	RCOR1	chr5:127871794-127875413	IMR90	lung:	n/a	n/a
18	CTCF	chr5:127874680-127874830	HA-sp	spinal cord:	n/a	n/a
19	CREB1	chr5:127873712-127874982	A549	lung:	n/a	n/a
20	RAD21	chr5:127874146-127875272	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTBP2	chr5:127871959-127875032	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr5:127873079-127875173	NB4	blood:	n/a	chr5:127874030-127874039
23	KAP1	chr5:127874312-127875334	HEK293	kidney:	n/a	n/a
24	GATA3	chr5:127873469-127874839	A549	lung:	n/a	chr5:127874265-127874275
25	POLR2A	chr5:127874739-127875080	A549	lung:	n/a	n/a
26	MAX	chr5:127872867-127875155	A549	lung:	n/a	chr5:127874030-127874039
27	MXI1	chr5:127871987-127875368	IMR90	lung:	n/a	n/a
28	ZNF143	chr5:127874123-127874833	H1-hESC	embryonic stem cell:	n/a	chr5:127874784-127874802 chr5:127874693-127874711
29	CTCF	chr5:127874760-127874910	HFF	foreskin:	n/a	n/a
30	POLR2A	chr5:127872958-127875128	MCF10A-Er-Src	breast:	n/a	n/a
31	MAX	chr5:127874330-127875199	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZBTB7A	chr5:127873685-127875101	ECC-1	luminal epithelium:	n/a	chr5:127874012-127874021 chr5:127874376-127874385
33	MAX	chr5:127872796-127875284	A549	lung:	n/a	chr5:127874030-127874039
34	SIN3A	chr5:127871997-127875223	H1-hESC	embryonic stem cell:	n/a	chr5:127872272-127872286 chr5:127874925-127874938
35	POLR2A	chr5:127874356-127874783	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr5:127873185-127875262	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
FBN2	TF binding region

Extended variants
information (count: 189 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs10520003	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11241962	1.00[ASN][1000 genomes]
rs11241964	1.00[ASN][1000 genomes]
rs11241965	1.00[ASN][1000 genomes]
rs11948376	1.00[ASN][1000 genomes]
rs11948920	1.00[ASN][1000 genomes]
rs11949017	1.00[ASN][1000 genomes]
rs11949649	1.00[ASN][1000 genomes]
rs11949660	1.00[ASN][1000 genomes]
rs11949692	1.00[ASN][1000 genomes]
rs11950568	1.00[ASN][1000 genomes]
rs11950625	1.00[ASN][1000 genomes]
rs11951267	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952247	1.00[ASN][1000 genomes]
rs11952334	1.00[ASN][1000 genomes]
rs11952524	1.00[ASN][1000 genomes]
rs11952602	1.00[ASN][1000 genomes]
rs11953201	1.00[ASN][1000 genomes]
rs11954034	1.00[ASN][1000 genomes]
rs11954070	1.00[ASN][1000 genomes]
rs11955937	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956467	1.00[ASN][1000 genomes]
rs11956495	1.00[ASN][1000 genomes]
rs11957280	1.00[ASN][1000 genomes]
rs11957487	1.00[ASN][1000 genomes]
rs11958508	1.00[ASN][1000 genomes]
rs11958996	1.00[ASN][1000 genomes]
rs11959560	1.00[ASN][1000 genomes]
rs13153812	1.00[ASN][1000 genomes]
rs13160701	1.00[ASN][1000 genomes]
rs13168271	1.00[ASN][1000 genomes]
rs1435512	1.00[ASN][1000 genomes]
rs17164083	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17164086	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17615636	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17677244	1.00[ASN][1000 genomes]
rs34012094	1.00[ASN][1000 genomes]
rs34139509	1.00[ASN][1000 genomes]
rs34615740	1.00[ASN][1000 genomes]
rs34665677	1.00[ASN][1000 genomes]
rs34881645	1.00[ASN][1000 genomes]
rs35043622	1.00[ASN][1000 genomes]
rs36003105	1.00[ASN][1000 genomes]
rs36052309	1.00[ASN][1000 genomes]
rs36071106	1.00[ASN][1000 genomes]
rs36125852	1.00[ASN][1000 genomes]
rs3924302	1.00[ASN][1000 genomes]
rs4133248	1.00[ASN][1000 genomes]
rs4318822	1.00[ASN][1000 genomes]
rs4339399	1.00[ASN][1000 genomes]
rs4345355	1.00[ASN][1000 genomes]
rs4365880	1.00[ASN][1000 genomes]
rs4380709	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4386769	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400171	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4410683	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425555	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4425556	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455613	1.00[ASN][1000 genomes]
rs4493715	1.00[ASN][1000 genomes]
rs4496752	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4557470	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4577751	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4580821	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582335	1.00[ASN][1000 genomes]
rs4620068	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4628037	1.00[ASN][1000 genomes]
rs4628038	1.00[ASN][1000 genomes]
rs4836374	1.00[ASN][1000 genomes]
rs55683423	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55715053	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55770077	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55791343	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55839668	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55944506	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56018106	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56072924	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173634	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56232757	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56766733	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57454105	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58143160	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58295967	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58955919	1.00[ASN][1000 genomes]
rs59143127	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59567527	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60324229	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60574263	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61358597	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61375240	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62390696	1.00[ASN][1000 genomes]
rs62390705	1.00[ASN][1000 genomes]
rs62390715	1.00[ASN][1000 genomes]
rs62390716	1.00[ASN][1000 genomes]
rs62390718	1.00[ASN][1000 genomes]
rs62390719	1.00[ASN][1000 genomes]
rs62390724	1.00[ASN][1000 genomes]
rs62390725	1.00[ASN][1000 genomes]
rs62390726	1.00[ASN][1000 genomes]
rs6595840	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66899065	1.00[ASN][1000 genomes]
rs67539441	1.00[ASN][1000 genomes]
rs67941180	1.00[ASN][1000 genomes]
rs6863062	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863262	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863380	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6863460	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864449	1.00[ASN][1000 genomes]
rs6865828	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870737	1.00[ASN][1000 genomes]
rs6870746	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6871698	1.00[ASN][1000 genomes]
rs6875600	1.00[ASN][1000 genomes]
rs6876597	1.00[ASN][1000 genomes]
rs6876609	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877748	1.00[ASN][1000 genomes]
rs6877872	1.00[ASN][1000 genomes]
rs6877956	1.00[ASN][1000 genomes]
rs6878062	1.00[ASN][1000 genomes]
rs6878172	1.00[ASN][1000 genomes]
rs6880762	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885752	1.00[ASN][1000 genomes]
rs6886451	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891153	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891166	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892406	1.00[ASN][1000 genomes]
rs6897170	1.00[ASN][1000 genomes]
rs6898190	1.00[ASN][1000 genomes]
rs73334912	1.00[ASN][1000 genomes]
rs73346354	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348066	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348070	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348077	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348078	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348080	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348085	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348087	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348099	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348102	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348278	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348280	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348287	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348295	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348296	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348299	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350104	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73350106	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350109	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350115	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350129	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350134	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73350195	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73352205	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73352207	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73352225	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7443826	1.00[ASN][1000 genomes]
rs7446246	1.00[ASN][1000 genomes]
rs7446359	1.00[ASN][1000 genomes]
rs7447218	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764369	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700287	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7704921	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709202	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709476	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7709634	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7712769	1.00[ASN][1000 genomes]
rs7714023	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714465	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7714623	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720190	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724233	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724383	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725452	1.00[ASN][1000 genomes]
rs7725949	1.00[ASN][1000 genomes]
rs7727413	1.00[ASN][1000 genomes]
rs7728409	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730875	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732171	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734405	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734534	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735831	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs892864	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968008	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv2763497	chr5:127745955-127882468	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv530822	chr5:127777365-127900742	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv427734	chr5:127805281-128088632	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3426737	chr5:127874753-127876851	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs55657505	FBN2	cis	Artery Aorta	GTEx
rs55657505	FBN2	cis	Whole Blood	GTEx
rs55657505	FBN2	cis	Thyroid	GTEx
rs55657505	FBN2	cis	Adipose Subcutaneous	GTEx
rs55657505	FBN2	cis	lung	GTEx
rs55657505	FBN2	cis	Nerve Tibial	GTEx
rs55657505	FBN2	cis	Artery Tibial	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127869200-127875000	Active TSS	Fetal Heart	heart
2	chr5:127870800-127875200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:127871000-127875400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr5:127871200-127875400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:127871600-127875000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
6	chr5:127871800-127874800	Bivalent/Poised TSS	NHDF-Ad	bronchial
7	chr5:127871800-127875200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:127871800-127875200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
9	chr5:127871800-127875200	Active TSS	Left Ventricle	heart
10	chr5:127871800-127875200	Active TSS	Right Ventricle	heart
11	chr5:127871800-127875400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:127872000-127875200	Bivalent/Poised TSS	Fetal Stomach	stomach
13	chr5:127872000-127875400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:127872200-127875000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:127872200-127875200	Active TSS	Right Atrium	heart
16	chr5:127872200-127875400	Active TSS	Muscle Satellite Cultured Cells	--
17	chr5:127872200-127875400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:127872400-127875000	Active TSS	Ovary	ovary
19	chr5:127872400-127875400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:127872400-127875400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr5:127872600-127874800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
22	chr5:127872600-127875000	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:127872600-127875000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr5:127872600-127875200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:127872600-127875200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
26	chr5:127872600-127875200	Active TSS	Placenta Amnion	Placenta Amnion
27	chr5:127872600-127875400	Active TSS	Fetal Kidney	kidney
28	chr5:127872800-127874800	Active TSS	Aorta	Aorta
29	chr5:127872800-127875000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:127872800-127875000	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:127872800-127875200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:127872800-127875200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:127872800-127875200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
34	chr5:127872800-127875200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
35	chr5:127872800-127875200	Active TSS	NHLF	lung
36	chr5:127872800-127875400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:127873000-127875000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr5:127873000-127875000	Bivalent/Poised TSS	HSMMtube	muscle
39	chr5:127873000-127875200	Active TSS	H9 Cell Line	embryonic stem cell
40	chr5:127873000-127875200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:127873200-127875000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
42	chr5:127873200-127875200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:127873200-127875200	Active TSS	Brain Substantia Nigra	brain
44	chr5:127873200-127875400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:127873400-127874800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
46	chr5:127873400-127874800	Active TSS	Rectal Smooth Muscle	rectum
47	chr5:127873400-127875000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr5:127873400-127875000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:127873400-127875000	Active TSS	Psoas Muscle	Psoas
50	chr5:127873400-127875400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links