Variant report

Variant	rs71313511
Chromosome Location	chr3:98696872-98696873
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	NFIC	chr3:98696242-98696974	ECC-1	luminal epithelium:	n/a	n/a
2	JUND	chr3:98696172-98697125	SK-N-SH	brain:	n/a	chr3:98696637-98696646 chr3:98696635-98696647 chr3:98696635-98696646 chr3:98696636-98696646 chr3:98696637-98696645 chr3:98696633-98696644 chr3:98696638-98696645
3	FOXM1	chr3:98696034-98697098	SK-N-SH	brain:	n/a	n/a
4	TEAD4	chr3:98696329-98696910	SK-N-SH	brain:	n/a	n/a
5	RXRA	chr3:98696192-98696890	SK-N-SH	brain:	n/a	chr3:98696636-98696645 chr3:98696637-98696646
6	TCF12	chr3:98696134-98697661	A549	lung:	n/a	chr3:98697639-98697646 chr3:98697052-98697061
7	POLR2A	chr3:98696348-98696943	SK-N-SH	brain:	n/a	n/a
8	FOS	chr3:98696368-98696886	MCF10A-Er-Src	breast:	n/a	chr3:98696637-98696646 chr3:98696635-98696647 chr3:98696636-98696646 chr3:98696637-98696645 chr3:98696633-98696644 chr3:98696635-98696646 chr3:98696638-98696645
9	EP300	chr3:98696092-98697028	SK-N-SH	brain:	n/a	chr3:98696636-98696645 chr3:98696637-98696646 chr3:98696403-98696417
10	TCF12	chr3:98696150-98697020	SK-N-SH	brain:	n/a	n/a
11	MAX	chr3:98696249-98696960	HCT-116	colon:	n/a	chr3:98696637-98696646 chr3:98696636-98696645
12	JUND	chr3:98696224-98696988	SK-N-SH	brain:	n/a	chr3:98696637-98696646 chr3:98696635-98696647 chr3:98696635-98696646 chr3:98696636-98696646 chr3:98696637-98696645 chr3:98696633-98696644 chr3:98696638-98696645
13	EP300	chr3:98696228-98696905	ECC-1	luminal epithelium:	n/a	chr3:98696636-98696645 chr3:98696637-98696646 chr3:98696403-98696417
14	CBX3	chr3:98696211-98696912	HCT-116	colon:	n/a	n/a
15	TCF12	chr3:98696294-98696943	ECC-1	luminal epithelium:	n/a	n/a
16	SP1	chr3:98696091-98697005	HCT-116	colon:	n/a	chr3:98696599-98696608
17	JUND	chr3:98696003-98697007	HCT-116	colon:	n/a	chr3:98696637-98696646 chr3:98696635-98696647 chr3:98696635-98696646 chr3:98696636-98696646 chr3:98696637-98696645 chr3:98696633-98696644 chr3:98696638-98696645
18	FOSL1	chr3:98696039-98697250	HCT-116	colon:	n/a	chr3:98697196-98697208 chr3:98696637-98696646 chr3:98696635-98696647 chr3:98696636-98696646 chr3:98696637-98696645 chr3:98696633-98696644 chr3:98696638-98696645
19	FOSL1	chr3:98696164-98697007	HCT-116	colon:	n/a	chr3:98696637-98696646 chr3:98696635-98696647 chr3:98696636-98696646 chr3:98696637-98696645 chr3:98696633-98696644 chr3:98696638-98696645
20	GATA3	chr3:98696155-98697043	SK-N-SH	brain:	n/a	n/a
21	PBX3	chr3:98696311-98696952	SK-N-SH	brain:	n/a	n/a
22	JUND	chr3:98696379-98697077	Hela-S3	cervix:	n/a	chr3:98696637-98696646 chr3:98696635-98696647 chr3:98696635-98696646 chr3:98696636-98696646 chr3:98696637-98696645 chr3:98696633-98696644 chr3:98696638-98696645
23	TCF12	chr3:98696146-98697046	SK-N-SH	brain:	n/a	n/a
24	EP300	chr3:98696145-98697506	A549	lung:	n/a	chr3:98697459-98697469 chr3:98697256-98697270 chr3:98697299-98697307 chr3:98696636-98696645 chr3:98696637-98696646 chr3:98696403-98696417
25	GATA3	chr3:98696210-98697048	SK-N-SH	brain:	n/a	n/a
26	BCL3	chr3:98696078-98697480	A549	lung:	n/a	chr3:98696636-98696645 chr3:98696637-98696646
27	EP300	chr3:98696085-98697051	SK-N-SH	brain:	n/a	chr3:98696636-98696645 chr3:98696637-98696646 chr3:98696403-98696417
28	FOS	chr3:98696304-98696920	HUVEC	blood vessel:	n/a	chr3:98696637-98696646 chr3:98696635-98696647 chr3:98696636-98696646 chr3:98696637-98696645 chr3:98696633-98696644 chr3:98696635-98696646 chr3:98696638-98696645
29	MAX	chr3:98696225-98696911	A549	lung:	n/a	chr3:98696637-98696646 chr3:98696636-98696645
30	TCF12	chr3:98696153-98697038	ECC-1	luminal epithelium:	n/a	n/a
31	JUND	chr3:98696108-98697045	HCT-116	colon:	n/a	chr3:98696637-98696646 chr3:98696635-98696647 chr3:98696635-98696646 chr3:98696636-98696646 chr3:98696637-98696645 chr3:98696633-98696644 chr3:98696638-98696645
32	SP1	chr3:98696112-98697488	A549	lung:	n/a	chr3:98696599-98696608
33	EP300	chr3:98696076-98697519	A549	lung:	n/a	chr3:98697459-98697469 chr3:98697256-98697270 chr3:98697299-98697307 chr3:98696636-98696645 chr3:98696637-98696646 chr3:98696403-98696417
34	CBX3	chr3:98696160-98696921	HCT-116	colon:	n/a	n/a
35	REST	chr3:98696174-98697425	A549	lung:	n/a	n/a
36	FOSL2	chr3:98696193-98696991	SK-N-SH	brain:	n/a	chr3:98696637-98696646 chr3:98696635-98696647 chr3:98696636-98696646 chr3:98696637-98696645 chr3:98696633-98696644 chr3:98696638-98696645
37	GATA3	chr3:98696060-98697575	A549	lung:	n/a	n/a
38	FOXM1	chr3:98696064-98697105	ECC-1	luminal epithelium:	n/a	n/a
39	GATA3	chr3:98696844-98697483	A549	lung:	n/a	n/a
40	SIX5	chr3:98696053-98696907	A549	lung:	n/a	n/a
41	SP1	chr3:98696040-98697362	HCT-116	colon:	n/a	chr3:98696599-98696608
42	CEBPB	chr3:98696152-98697541	A549	lung:	n/a	chr3:98696405-98696418
43	POLR2A	chr3:98696149-98696981	U87	brain:	n/a	n/a
44	POLR2A	chr3:98696357-98696886	HCT-116	colon:	n/a	n/a
45	SRF	chr3:98696150-98697009	HCT-116	colon:	n/a	n/a
46	FOSL2	chr3:98696358-98696921	SK-N-SH	brain:	n/a	chr3:98696637-98696646 chr3:98696635-98696647 chr3:98696636-98696646 chr3:98696637-98696645 chr3:98696633-98696644 chr3:98696638-98696645
47	NFIC	chr3:98696117-98697072	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr3:98696298-98696945	HUVEC	blood vessel:	n/a	n/a
49	FOS	chr3:98696378-98697078	MCF10A-Er-Src	breast:	n/a	chr3:98696637-98696646 chr3:98696635-98696647 chr3:98696636-98696646 chr3:98696637-98696645 chr3:98696633-98696644 chr3:98696635-98696646 chr3:98696638-98696645
50	POLR2A	chr3:98696308-98696975	U87	brain:	n/a	n/a

Variant related genes	Relation type
LINC00973	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10428160	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10589669	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11552978	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12107272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12108018	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12108142	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13059624	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13065136	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13068317	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13072410	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13074614	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13074787	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13076960	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13078549	0.91[EUR][1000 genomes]
rs13079960	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13080057	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13081992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13083238	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13083613	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13083934	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13084692	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13087627	0.95[EUR][1000 genomes]
rs13087631	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13088532	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13091170	0.95[EUR][1000 genomes]
rs13091236	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13091956	0.84[EUR][1000 genomes]
rs13093128	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13096085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13097876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13100915	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13100937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1983009	0.82[EUR][1000 genomes]
rs2439232	0.89[EUR][1000 genomes]
rs2454687	0.91[EUR][1000 genomes]
rs34008360	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34269725	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34279227	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34284740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34394867	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34428696	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34470469	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34479374	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34489202	0.95[EUR][1000 genomes]
rs34688367	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34711372	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34725039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34826460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34848749	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34860591	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35006699	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35025156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35076733	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs35098355	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35103318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35219252	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35234681	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35239055	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35312318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35366262	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35422064	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35499232	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35514544	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35526367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35539438	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35592768	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35764973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35854439	0.84[EUR][1000 genomes]
rs35894621	0.82[EUR][1000 genomes]
rs35914268	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35947493	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35947806	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36032715	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36098932	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36157152	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36160001	0.86[EUR][1000 genomes]
rs36175276	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs41267851	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55644421	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56083233	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56094988	0.91[AMR][1000 genomes]
rs56246599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56408882	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6764579	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6805362	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71124004	0.81[EUR][1000 genomes]
rs71311393	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71311394	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71311397	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71311398	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71311402	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71313504	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71313506	0.93[EUR][1000 genomes]
rs71313508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71313509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71313510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7614053	1.00[AMR][1000 genomes];0.98[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	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98692000-98699600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:98693600-98697400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:98695000-98697800	Enhancers	HMEC	breast
4	chr3:98695400-98698800	Enhancers	Osteobl	bone
5	chr3:98696000-98697200	Enhancers	HSMMtube	muscle
6	chr3:98696000-98699600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:98696200-98697600	Enhancers	Hela-S3	cervix
8	chr3:98696200-98697600	Enhancers	NHEK	skin
9	chr3:98696400-98697000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:98696400-98697000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:98696400-98697000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:98696400-98697000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:98696400-98697000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:98696400-98697000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:98696400-98697000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:98696400-98697200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr3:98696400-98697400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:98696400-98697600	Enhancers	HSMM	muscle
19	chr3:98696400-98697600	Enhancers	NHDF-Ad	bronchial
20	chr3:98696400-98697800	Enhancers	NHLF	lung
21	chr3:98696400-98698200	Flanking Active TSS	A549	lung
22	chr3:98696400-98699000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:98696400-98699800	Enhancers	GM12878-XiMat	blood
24	chr3:98696600-98697400	Enhancers	HepG2	liver
25	chr3:98696600-98698800	Enhancers	NH-A	brain
26	chr3:98696600-98699800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:98696800-98699000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:98696800-98700400	Enhancers	HUVEC	blood vessel

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