Variant report

Variant	rs16971700
Chromosome Location	chr15:41525604-41525605
allele	A/G
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	chr15:41525397-41526185	K562	blood:	n/a	n/a
2	CEBPD	chr15:41525563-41526184	K562	blood:	n/a	n/a
3	MAX	chr15:41525430-41525904	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr15:41525312-41526070	IMR90	lung:	n/a	n/a
5	FOSL2	chr15:41525376-41525971	SK-N-SH	brain:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525687-41525697
6	POLR2A	chr15:41525509-41525884	SK-N-SH	brain:	n/a	n/a
7	TRIM28	chr15:41525560-41526118	K562	blood:	n/a	n/a
8	JUN	chr15:41525546-41526103	K562	blood:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525687-41525697
9	GATA1	chr15:41525588-41526324	PBDE	blood:	n/a	chr15:41525853-41525862 chr15:41525926-41525937 chr15:41525855-41525865 chr15:41525686-41525695 chr15:41525844-41525861
10	CEBPB	chr15:41525566-41525829	Hela-S3	cervix:	n/a	n/a
11	TEAD4	chr15:41525575-41526060	K562	blood:	n/a	n/a
12	JUND	chr15:41525392-41526188	SK-N-SH	brain:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525687-41525697 chr15:41525686-41525697
13	MYC	chr15:41525378-41525966	MCF10A-Er-Src	breast:	n/a	n/a
14	MAX	chr15:41525542-41526117	K562	blood:	n/a	n/a
15	GATA1	chr15:41524808-41527048	K562	blood:	n/a	chr15:41525853-41525862 chr15:41526750-41526766 chr15:41525926-41525937 chr15:41526748-41526769 chr15:41525855-41525865 chr15:41525686-41525695 chr15:41525844-41525861
16	JUN	chr15:41524923-41526277	K562	blood:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525687-41525697
17	MYC	chr15:41525593-41526096	K562	blood:	n/a	n/a
18	MAX	chr15:41525596-41525728	Hela-S3	cervix:	n/a	n/a
19	MYC	chr15:41525439-41525858	MCF10A-Er-Src	breast:	n/a	n/a
20	JUND	chr15:41525499-41525964	HepG2	liver:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525687-41525697 chr15:41525686-41525697
21	FOS	chr15:41525497-41525954	MCF10A-Er-Src	breast:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525686-41525697 chr15:41525687-41525697
22	FOSL2	chr15:41525453-41525965	A549	lung:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525687-41525697
23	PML	chr15:41525571-41526102	K562	blood:	n/a	n/a
24	POLR2A	chr15:41525570-41526029	K562	blood:	n/a	n/a
25	ELF1	chr15:41525426-41525956	SK-N-SH	brain:	n/a	n/a
26	STAT3	chr15:41525551-41525848	MCF10A-Er-Src	breast:	n/a	n/a
27	JUND	chr15:41525475-41525999	SK-N-SH	brain:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525687-41525697 chr15:41525686-41525697
28	FOS	chr15:41525502-41525871	MCF10A-Er-Src	breast:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525686-41525697 chr15:41525687-41525697
29	JUND	chr15:41525558-41526139	K562	blood:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525687-41525697 chr15:41525686-41525697
30	FOSL2	chr15:41525484-41525869	HepG2	liver:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525687-41525697
31	STAT3	chr15:41525409-41525717	MCF10A-Er-Src	breast:	n/a	n/a
32	CEBPB	chr15:41525529-41525855	IMR90	lung:	n/a	n/a
33	FOS	chr15:41525502-41525923	MCF10A-Er-Src	breast:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525686-41525697 chr15:41525687-41525697
34	FOS	chr15:41525516-41525982	MCF10A-Er-Src	breast:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525686-41525697 chr15:41525687-41525697
35	JUN	chr15:41525404-41526035	K562	blood:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525687-41525697
36	ATF3	chr15:41525594-41526108	K562	blood:	n/a	n/a
37	STAT5A	chr15:41525599-41526042	K562	blood:	n/a	n/a
38	MYC	chr15:41525603-41526132	K562	blood:	n/a	n/a
39	FOSL1	chr15:41525581-41526030	K562	blood:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525687-41525697
40	STAT5A	chr15:41525545-41526116	K562	blood:	n/a	n/a
41	CEBPD	chr15:41525576-41526179	K562	blood:	n/a	n/a
42	MXI1	chr15:41525506-41525780	HepG2	liver:	n/a	n/a
43	FOS	chr15:41525496-41525862	HUVEC	blood vessel:	n/a	chr15:41525687-41525697 chr15:41525684-41525695 chr15:41525687-41525697 chr15:41525686-41525697 chr15:41525687-41525697
44	POLR2A	chr15:41525574-41526097	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41522897..41527944-chr15:41573906..41578128,9	K562	blood:
2	chr15:41512004..41513942-chr15:41524174..41526665,2	K562	blood:
3	chr15:41524374..41527322-chr15:41542532..41544931,2	K562	blood:
4	chr15:41219463..41223303-chr15:41521190..41526712,8	K562	blood:
5	chr15:41524238..41526423-chr15:41781115..41782836,2	K562	blood:
6	chr15:41522629..41527275-chr15:41575215..41577611,6	K562	blood:
7	chr15:41523451..41525633-chr15:41623235..41625068,3	K562	blood:
8	chr15:41407188..41409566-chr15:41523202..41527124,5	K562	blood:

Variant related genes	Relation type
EXD1	TF binding region
ENSG00000128908	Chromatin interaction
ENSG00000137804	Chromatin interaction
ENSG00000247556	Chromatin interaction
ENSG00000104147	Chromatin interaction
ENSG00000128917	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10152855	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070321	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11070325	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11070326	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11855102	0.93[ASN][1000 genomes]
rs11858115	0.88[ASN][1000 genomes]
rs11858678	0.82[ASN][1000 genomes]
rs12324159	0.80[ASN][1000 genomes]
rs16971693	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1717198	0.80[ASN][1000 genomes]
rs1866400	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1965139	0.86[ASN][1000 genomes]
rs1965140	0.86[ASN][1000 genomes]
rs1971131	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2083239	0.94[ASN][1000 genomes]
rs2164996	0.88[ASN][1000 genomes]
rs28409265	0.88[ASN][1000 genomes]
rs28493237	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28495204	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28568756	0.88[ASN][1000 genomes]
rs28615543	0.86[ASN][1000 genomes]
rs28665387	0.89[ASN][1000 genomes]
rs28735224	0.88[ASN][1000 genomes]
rs2899013	0.85[ASN][1000 genomes]
rs2928141	0.80[ASN][1000 genomes]
rs41442144	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4258585	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4419033	0.83[ASN][1000 genomes]
rs4445868	0.92[ASN][1000 genomes]
rs537244	0.82[ASN][1000 genomes]
rs551482	0.82[ASN][1000 genomes]
rs55756301	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56082289	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56837771	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57943533	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58083671	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58644012	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59389433	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59616518	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59691280	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60249025	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60422198	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61495227	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61586152	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6492988	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6492991	0.90[ASN][1000 genomes]
rs6492992	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6492993	0.94[ASN][1000 genomes]
rs6492994	0.92[ASN][1000 genomes]
rs6492997	0.88[ASN][1000 genomes]
rs66471237	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66510055	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66602495	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67531333	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs68133575	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs690733	0.82[ASN][1000 genomes]
rs691702	0.82[ASN][1000 genomes]
rs7162443	0.89[ASN][1000 genomes]
rs7162503	0.86[ASN][1000 genomes]
rs7165931	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7166205	0.92[ASN][1000 genomes]
rs7166905	0.90[ASN][1000 genomes]
rs7167813	0.88[ASN][1000 genomes]
rs7170049	0.85[ASN][1000 genomes]
rs7170913	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7173086	0.93[ASN][1000 genomes]
rs7175912	0.86[ASN][1000 genomes]
rs7178840	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7179231	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7179676	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7179969	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72737765	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73396329	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73396336	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73396340	0.90[EUR][1000 genomes]
rs8023638	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8026858	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8029792	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8032589	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8035252	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8036602	0.83[ASN][1000 genomes]
rs8037302	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8038834	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8039915	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8039934	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs909023	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs909024	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs909025	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9972345	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9972349	0.85[ASN][1000 genomes]
rs9972622	0.85[ASN][1000 genomes]
rs9972623	0.85[ASN][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	nsv457120	chr15:41410705-41546631	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv569231	chr15:41410705-41546631	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv1844058	chr15:41511916-41548948	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41524000-41525800	Flanking Active TSS	Hela-S3	cervix
2	chr15:41524200-41525800	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr15:41524200-41525800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr15:41524200-41525800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr15:41524200-41525800	Weak transcription	Lung	lung
6	chr15:41524200-41533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:41524200-41533400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:41524200-41535800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:41524200-41536600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:41524200-41546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:41524200-41554800	Weak transcription	Fetal Thymus	thymus
12	chr15:41524200-41555800	Weak transcription	Aorta	Aorta
13	chr15:41524200-41563800	Weak transcription	Small Intestine	intestine
14	chr15:41524200-41575800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:41524400-41525800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr15:41524400-41525800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr15:41524400-41525800	Enhancers	Dnd41	blood
18	chr15:41524400-41526000	Enhancers	Fetal Heart	heart
19	chr15:41524400-41532400	Weak transcription	Fetal Intestine Small	intestine
20	chr15:41524400-41533400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:41524400-41533600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:41524400-41533600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr15:41524400-41535800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr15:41524400-41536600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:41524400-41555800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr15:41524600-41526000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:41524600-41526000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr15:41524600-41526200	Enhancers	Brain Cingulate Gyrus	brain
29	chr15:41524600-41526200	Enhancers	Right Ventricle	heart
30	chr15:41524600-41526400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:41524600-41526600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr15:41524600-41527800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:41524600-41533400	Weak transcription	Primary B cells from cord blood	blood
34	chr15:41524600-41533600	Weak transcription	Thymus	Thymus
35	chr15:41524600-41536400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr15:41524600-41536600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr15:41524800-41525800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr15:41524800-41525800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:41524800-41525800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:41524800-41525800	Weak transcription	Left Ventricle	heart
41	chr15:41524800-41525800	Enhancers	Right Atrium	heart
42	chr15:41524800-41525800	Enhancers	Stomach Smooth Muscle	stomach
43	chr15:41524800-41526000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:41524800-41526000	Enhancers	Duodenum Mucosa	Duodenum
45	chr15:41524800-41526000	Enhancers	HSMM	muscle
46	chr15:41524800-41526000	Enhancers	HUVEC	blood vessel
47	chr15:41524800-41526200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:41524800-41526200	Enhancers	Colon Smooth Muscle	Colon
49	chr15:41524800-41526400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:41524800-41526400	Enhancers	Pancreas	Pancrea

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