Variant report

Variant	rs7176472
Chromosome Location	chr15:57029792-57029793
allele	C/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	TEAD4	chr15:57029210-57030106	K562	blood:	n/a	n/a
2	TCF7L2	chr15:57029264-57030079	HEK293	kidney:	n/a	n/a
3	CEBPB	chr15:57029454-57029796	K562	blood:	n/a	n/a
4	GATA2	chr15:57029449-57029958	K562	blood:	n/a	n/a
5	STAT2	chr15:57029511-57029982	K562	blood:	n/a	n/a
6	STAT1	chr15:57028464-57030684	Hela-S3	cervix:	n/a	chr15:57029805-57029816 chr15:57029776-57029787
7	POLR2A	chr15:57029550-57029836	H1-neurons	neurons:	n/a	n/a
8	TAL1	chr15:57029500-57029876	K562	blood:	n/a	n/a
9	ATF1	chr15:57029414-57030015	K562	blood:	n/a	n/a
10	JUND	chr15:57029426-57030070	K562	blood:	n/a	n/a
11	ARID3A	chr15:57029397-57029966	K562	blood:	n/a	n/a
12	GATA2	chr15:57029466-57030016	HUVEC	blood vessel:	n/a	n/a
13	EP300	chr15:57029321-57030282	K562	blood:	n/a	n/a
14	JUN	chr15:57029395-57029935	K562	blood:	n/a	n/a
15	IRF1	chr15:57029483-57030002	K562	blood:	n/a	n/a
16	RCOR1	chr15:57029389-57030014	K562	blood:	n/a	n/a
17	CUX1	chr15:57029425-57029881	K562	blood:	n/a	n/a
18	CEBPB	chr15:57029461-57029796	Hela-S3	cervix:	n/a	n/a
19	STAT5A	chr15:57029497-57029910	K562	blood:	n/a	n/a
20	JUN	chr15:57029367-57029995	K562	blood:	n/a	n/a
21	POLR2A	chr15:57029566-57029837	H1-neurons	neurons:	n/a	n/a
22	STAT1	chr15:57029525-57029973	K562	blood:	n/a	chr15:57029805-57029816 chr15:57029776-57029787
23	CCNT2	chr15:57029455-57029880	K562	blood:	n/a	n/a
24	IRF1	chr15:57029136-57030171	K562	blood:	n/a	n/a
25	MYC	chr15:57029454-57029928	K562	blood:	n/a	n/a
26	PML	chr15:57029402-57029933	K562	blood:	n/a	n/a
27	MYC	chr15:57029274-57030044	K562	blood:	n/a	n/a
28	GATA2	chr15:57029492-57029910	K562	blood:	n/a	n/a
29	TBP	chr15:57029428-57029825	K562	blood:	n/a	n/a
30	FOXA2	chr15:57029737-57030656	HepG2	liver:	n/a	n/a
31	TBL1XR1	chr15:57029459-57030058	K562	blood:	n/a	n/a
32	STAT1	chr15:57029390-57030106	K562	blood:	n/a	chr15:57029805-57029816 chr15:57029776-57029787
33	STAT1	chr15:57029405-57030036	K562	blood:	n/a	chr15:57029805-57029816 chr15:57029776-57029787
34	MAZ	chr15:57029493-57029982	K562	blood:	n/a	n/a
35	TAF1	chr15:57029686-57030021	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65271375..65272060-chr15:57029412..57030284,2	Hela-S3	cervix:
2	chr15:57029486..57031384-chr15:57033144..57035574,2	K562	blood:

Variant related genes	Relation type
ZNF280D	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10518872	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1087705	0.88[EUR][1000 genomes]
rs11071285	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11071286	0.82[AMR][1000 genomes]
rs12437635	1.00[CEU][hapmap]
rs12437714	0.80[AMR][1000 genomes]
rs12437735	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12438377	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12438728	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12439116	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12439563	0.94[EUR][1000 genomes]
rs12439586	0.88[EUR][1000 genomes]
rs12439697	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12440006	0.94[EUR][1000 genomes]
rs12440725	1.00[CEU][hapmap]
rs12440891	1.00[CEU][hapmap]
rs12441746	0.89[EUR][1000 genomes]
rs12441769	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12441792	0.87[AMR][1000 genomes]
rs12442069	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12442630	0.80[AMR][1000 genomes]
rs12442662	1.00[CEU][hapmap]
rs12443178	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12903143	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12907983	0.94[EUR][1000 genomes]
rs1364541	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1564557	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1586022	0.83[EUR][1000 genomes]
rs1600829	0.94[EUR][1000 genomes]
rs1600831	0.89[EUR][1000 genomes]
rs1631905	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1647386	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1647391	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16977123	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17238859	0.82[EUR][1000 genomes]
rs17238880	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17238894	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17238901	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17819592	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17819616	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17819646	1.00[CEU][hapmap]
rs1834199	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2052641	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2161935	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2170461	0.83[EUR][1000 genomes]
rs2170462	0.88[EUR][1000 genomes]
rs2459565	0.88[EUR][1000 genomes]
rs2676178	0.88[EUR][1000 genomes]
rs2676181	0.88[EUR][1000 genomes]
rs2733231	0.83[EUR][1000 genomes]
rs2899599	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4287503	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4424865	0.80[AMR][1000 genomes]
rs4594195	0.83[EUR][1000 genomes]
rs4774869	0.83[EUR][1000 genomes]
rs4774885	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs480701	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6493888	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs74015901	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8029710	0.85[EUR][1000 genomes]
rs966807	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv569576	chr15:57012816-57126917	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3387219	chr15:57027535-57031262	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57026200-57032400	Weak transcription	Pancreas	Pancrea
2	chr15:57026800-57030000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:57027600-57033000	Enhancers	HepG2	liver
4	chr15:57027800-57030200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:57027800-57032600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr15:57028200-57029800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:57028400-57030600	Enhancers	Rectal Smooth Muscle	rectum
8	chr15:57028600-57030400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:57028600-57030400	Enhancers	Colon Smooth Muscle	Colon
10	chr15:57028600-57030600	Enhancers	HUVEC	blood vessel
11	chr15:57028600-57030800	Enhancers	Hela-S3	cervix
12	chr15:57028800-57029800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr15:57028800-57029800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:57028800-57030200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:57028800-57030200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr15:57028800-57030200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr15:57028800-57030400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr15:57028800-57030600	Enhancers	Fetal Stomach	stomach
19	chr15:57028800-57031400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr15:57029000-57029800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr15:57029000-57029800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr15:57029000-57029800	Enhancers	Small Intestine	intestine
23	chr15:57029000-57030400	Enhancers	Fetal Thymus	thymus
24	chr15:57029000-57030600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr15:57029000-57030600	Weak transcription	A549	lung
26	chr15:57029200-57030000	Flanking Active TSS	K562	blood
27	chr15:57029200-57030200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:57029200-57030200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:57029200-57030400	Enhancers	Ovary	ovary
30	chr15:57029200-57030800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:57029200-57032400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr15:57029400-57029800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:57029400-57030000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr15:57029400-57030800	Enhancers	Fetal Kidney	kidney
35	chr15:57029600-57029800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:57029600-57030400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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