Variant report

Variant	rs72773513
Chromosome Location	chr5:93954054-93954055
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:310)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:93953532-93954786	U87	brain:	n/a	n/a
2	MAFK	chr5:93953541-93954939	Hela-S3	cervix:	n/a	n/a
3	GATA1	chr5:93953405-93955460	PBDE	blood:	n/a	n/a
4	MYC	chr5:93953576-93954639	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr5:93953725-93954954	Raji	blood:	n/a	n/a
6	SIN3AK20	chr5:93953558-93955054	HCT-116	colon:	n/a	n/a
7	CBX3	chr5:93953671-93954907	K562	blood:	n/a	n/a
8	EGR1	chr5:93953980-93954427	K562	blood:	n/a	chr5:93954107-93954122 chr5:93954108-93954121 chr5:93954105-93954119 chr5:93954107-93954121 chr5:93954151-93954161
9	HCFC1	chr5:93953476-93955162	K562	blood:	n/a	n/a
10	CTCF	chr5:93954020-93954170	HCFaa	heart:	n/a	n/a
11	RCOR1	chr5:93953806-93954532	HepG2	liver:	n/a	n/a
12	RCOR1	chr5:93954020-93954783	GM12878	blood:	n/a	n/a
13	NR2F2	chr5:93953782-93954397	K562	blood:	n/a	n/a
14	BRCA1	chr5:93953436-93954697	Hela-S3	cervix:	n/a	n/a
15	NR3C1	chr5:93953631-93954267	A549	lung:	n/a	n/a
16	MXI1	chr5:93953606-93955115	GM12878	blood:	n/a	n/a
17	HMGN3	chr5:93953853-93954871	K562	blood:	n/a	n/a
18	GABPA	chr5:93953845-93954122	GM12878	blood:	n/a	n/a
19	TAF1	chr5:93953460-93954830	A549	lung:	n/a	n/a
20	POLR2A	chr5:93953601-93954903	Hela-S3	cervix:	n/a	n/a
21	YY1	chr5:93953725-93954491	A549	lung:	n/a	n/a
22	YY1	chr5:93954007-93954474	SK-N-SH_RA	brain:	n/a	n/a
23	POLR2A	chr5:93953765-93955125	K562	blood:	n/a	n/a
24	POLR2A	chr5:93954046-93954887	PANC-1	pancreas:	n/a	n/a
25	SIN3AK20	chr5:93953714-93954513	A549	lung:	n/a	n/a
26	ELK1	chr5:93953757-93954512	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr5:93953759-93954771	A549	lung:	n/a	n/a
28	POLR2A	chr5:93953217-93954636	MCF10A-Er-Src	breast:	n/a	n/a
29	TAF1	chr5:93953870-93954678	H1-neurons	neurons:	n/a	n/a
30	RCOR1	chr5:93953594-93955232	K562	blood:	n/a	n/a
31	ZNF143	chr5:93953847-93954776	H1-hESC	embryonic stem cell:	n/a	n/a
32	NFIC	chr5:93953871-93954494	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:93953726-93954938	H1-neurons	neurons:	n/a	n/a
34	TBP	chr5:93953671-93954984	H1-hESC	embryonic stem cell:	n/a	n/a
35	TBL1XR1	chr5:93954003-93954542	GM12878	blood:	n/a	n/a
36	TBP	chr5:93953514-93954947	K562	blood:	n/a	n/a
37	GATA3	chr5:93953825-93954493	MCF-7	breast:	n/a	n/a
38	MAX	chr5:93953658-93954867	H1-hESC	embryonic stem cell:	n/a	n/a
39	NR2C2	chr5:93953912-93954699	HepG2	liver:	n/a	n/a
40	MAX	chr5:93953676-93954936	ECC-1	luminal epithelium:	n/a	n/a
41	MAX	chr5:93953565-93955119	A549	lung:	n/a	n/a
42	RUNX3	chr5:93954016-93955101	GM12878	blood:	n/a	n/a
43	SP1	chr5:93953630-93954670	A549	lung:	n/a	chr5:93954473-93954480
44	FOXA2	chr5:93954005-93954651	A549	lung:	n/a	n/a
45	POLR2A	chr5:93953276-93955130	Hela-S3	cervix:	n/a	n/a
46	BCLAF1	chr5:93953872-93955051	GM12878	blood:	n/a	chr5:93954800-93954813
47	POLR2A	chr5:93953699-93954876	H1-hESC	embryonic stem cell:	n/a	n/a
48	GATA3	chr5:93953729-93954487	T-47D	breast:	n/a	n/a
49	HEY1	chr5:93954022-93954620	HepG2	liver:	n/a	n/a
50	TCF12	chr5:93953766-93954775	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62609119..62609748-chr5:93953385..93954209,2	Hela-S3	cervix:
2	chr12:49658839..49659340-chr5:93953848..93954348,2	Hela-S3	cervix:
3	chr17:58467919..58470665-chr5:93953000..93954883,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000270133	TF binding region
ANKRD32	TF binding region
ENSG00000167553	Chromatin interaction
ENSG00000170832	Chromatin interaction
ENSG00000141371	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1006626	0.88[ASN][1000 genomes]
rs1006627	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1026232	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11135406	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11135407	0.91[ASN][1000 genomes]
rs11135408	0.90[ASN][1000 genomes]
rs11135409	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11135410	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1124668	0.87[ASN][1000 genomes]
rs12514098	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12517059	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12519472	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12521289	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12652705	0.88[ASN][1000 genomes]
rs12653594	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12653819	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12654602	0.91[ASN][1000 genomes]
rs12655521	0.89[ASN][1000 genomes]
rs12655665	0.89[ASN][1000 genomes]
rs12655669	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12656300	0.89[ASN][1000 genomes]
rs12656694	0.91[ASN][1000 genomes]
rs12657227	0.89[ASN][1000 genomes]
rs12657323	0.91[ASN][1000 genomes]
rs12659125	0.84[ASN][1000 genomes]
rs12659597	0.89[ASN][1000 genomes]
rs1390642	0.91[ASN][1000 genomes]
rs1390644	0.89[ASN][1000 genomes]
rs1451735	0.88[ASN][1000 genomes]
rs1562911	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17083824	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17083825	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083826	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083827	0.91[ASN][1000 genomes]
rs17083828	0.91[ASN][1000 genomes]
rs17083873	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17083887	0.88[ASN][1000 genomes]
rs17083888	0.86[ASN][1000 genomes]
rs17083896	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17083911	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2032813	0.89[ASN][1000 genomes]
rs2044910	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2044911	0.89[ASN][1000 genomes]
rs2047318	0.89[ASN][1000 genomes]
rs2047319	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122984	0.91[ASN][1000 genomes]
rs2122985	0.91[ASN][1000 genomes]
rs2132548	0.89[ASN][1000 genomes]
rs2201620	0.87[ASN][1000 genomes]
rs2220965	0.87[ASN][1000 genomes]
rs2270626	0.84[ASN][1000 genomes]
rs2346764	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2346765	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34074526	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3947399	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4537040	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56242961	0.91[ASN][1000 genomes]
rs56824518	0.88[ASN][1000 genomes]
rs57041121	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57188935	0.91[ASN][1000 genomes]
rs60191000	0.88[ASN][1000 genomes]
rs6556850	0.89[ASN][1000 genomes]
rs6556851	0.89[ASN][1000 genomes]
rs66464936	0.88[ASN][1000 genomes]
rs66483218	0.88[ASN][1000 genomes]
rs66488253	0.91[ASN][1000 genomes]
rs66518525	0.89[ASN][1000 genomes]
rs66578784	0.87[ASN][1000 genomes]
rs66694903	0.91[ASN][1000 genomes]
rs66696350	0.89[ASN][1000 genomes]
rs66936860	0.90[ASN][1000 genomes]
rs67313609	0.88[ASN][1000 genomes]
rs67531524	0.91[ASN][1000 genomes]
rs67831380	0.88[ASN][1000 genomes]
rs67994891	0.89[ASN][1000 genomes]
rs6869588	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6879347	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6879384	0.88[ASN][1000 genomes]
rs6883128	0.88[ASN][1000 genomes]
rs6883326	0.88[ASN][1000 genomes]
rs6891545	0.86[ASN][1000 genomes]
rs6893587	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6897550	0.87[ASN][1000 genomes]
rs72771700	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773504	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773507	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773517	0.91[ASN][1000 genomes]
rs72773522	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773523	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773524	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72773526	0.91[ASN][1000 genomes]
rs72773528	0.85[ASN][1000 genomes]
rs72773533	0.89[ASN][1000 genomes]
rs72773541	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72773547	0.88[ASN][1000 genomes]
rs72773549	0.88[ASN][1000 genomes]
rs72773556	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72773573	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72773575	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72773586	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73136312	0.91[ASN][1000 genomes]
rs7446179	0.91[ASN][1000 genomes]
rs755900	0.90[ASN][1000 genomes]
rs7735659	0.89[ASN][1000 genomes]
rs7737187	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7737366	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9918142	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758002	chr5:93765205-94042201	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759354	chr5:93765205-94042201	Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv534495	chr5:93789736-93962131	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv598952	chr5:93823951-93956986	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93951000-93957200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:93951200-93955000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:93951800-93956200	Active TSS	Hela-S3	cervix
4	chr5:93952600-93955600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:93952600-93955600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr5:93952600-93955800	Active TSS	Fetal Brain Female	brain
7	chr5:93952600-93955800	Active TSS	HMEC	breast
8	chr5:93952800-93955200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:93952800-93955400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr5:93952800-93955400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr5:93952800-93955600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:93952800-93955600	Active TSS	NHLF	lung
13	chr5:93952800-93955800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:93952800-93956000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:93953000-93954400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:93953000-93954800	Active TSS	Primary T cells fromperipheralblood	blood
17	chr5:93953000-93954800	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr5:93953000-93955000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:93953000-93955000	Active TSS	Fetal Muscle Leg	muscle
20	chr5:93953000-93955200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:93953000-93955200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:93953000-93955200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:93953000-93955400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:93953000-93955400	Active TSS	Brain Angular Gyrus	brain
25	chr5:93953000-93955400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr5:93953000-93955400	Active TSS	Right Atrium	heart
27	chr5:93953000-93955400	Active TSS	Right Ventricle	heart
28	chr5:93953000-93955600	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr5:93953000-93955600	Active TSS	Fetal Intestine Small	intestine
30	chr5:93953000-93955800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:93953000-93956200	Active TSS	K562	blood
32	chr5:93953200-93954200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr5:93953200-93954600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:93953200-93955000	Active TSS	Aorta	Aorta
35	chr5:93953200-93955000	Active TSS	Fetal Thymus	thymus
36	chr5:93953200-93955000	Active TSS	HSMMtube	muscle
37	chr5:93953200-93955200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:93953200-93955200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:93953200-93955200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr5:93953200-93955200	Active TSS	Muscle Satellite Cultured Cells	--
41	chr5:93953200-93955200	Active TSS	Colonic Mucosa	Colon
42	chr5:93953200-93955200	Active TSS	Fetal Kidney	kidney
43	chr5:93953200-93955200	Active TSS	Fetal Stomach	stomach
44	chr5:93953200-93955200	Active TSS	Left Ventricle	heart
45	chr5:93953200-93955200	Active TSS	Psoas Muscle	Psoas
46	chr5:93953200-93955200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr5:93953200-93955200	Active TSS	Stomach Smooth Muscle	stomach
48	chr5:93953200-93955200	Active TSS	HSMM	muscle
49	chr5:93953200-93955400	Active TSS	H1 Cell Line	embryonic stem cell
50	chr5:93953200-93955400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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