Variant report

Variant	rs72936691
Chromosome Location	chr3:98625486-98625487
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	CBX3	chr3:98624962-98625582	HCT-116	colon:	n/a	n/a
2	TEAD4	chr3:98624988-98625546	HCT-116	colon:	n/a	n/a
3	SP1	chr3:98624817-98625655	HCT-116	colon:	n/a	n/a
4	MAX	chr3:98624922-98625563	A549	lung:	n/a	n/a
5	NFIC	chr3:98624960-98625533	ECC-1	luminal epithelium:	n/a	n/a
6	FOXM1	chr3:98624874-98625497	SK-N-SH	brain:	n/a	n/a
7	JUND	chr3:98624929-98625523	SK-N-SH	brain:	n/a	chr3:98625032-98625041
8	RXRA	chr3:98624974-98625573	SK-N-SH	brain:	n/a	n/a
9	EP300	chr3:98624816-98625625	SK-N-SH	brain:	n/a	n/a
10	NFIC	chr3:98624951-98625583	SK-N-SH	brain:	n/a	n/a
11	SP1	chr3:98624823-98625650	A549	lung:	n/a	n/a
12	TCF12	chr3:98624758-98625722	A549	lung:	n/a	n/a
13	NFIC	chr3:98624820-98625566	ECC-1	luminal epithelium:	n/a	n/a
14	TCF7L2	chr3:98625094-98625576	HCT-116	colon:	n/a	chr3:98625376-98625392 chr3:98625376-98625392 chr3:98625377-98625391 chr3:98625379-98625388
15	TEAD4	chr3:98624920-98625543	ECC-1	luminal epithelium:	n/a	n/a
16	PBX3	chr3:98624920-98625629	SK-N-SH	brain:	n/a	n/a
17	EP300	chr3:98624908-98625700	A549	lung:	n/a	n/a
18	TCF12	chr3:98624907-98625672	SK-N-SH	brain:	n/a	n/a
19	NR3C1	chr3:98625172-98625548	A549	lung:	n/a	n/a
20	FOXA1	chr3:98625073-98625577	A549	lung:	n/a	chr3:98625262-98625274
21	TAF1	chr3:98625168-98625491	SK-N-SH	brain:	n/a	n/a
22	GATA3	chr3:98624983-98625544	A549	lung:	n/a	n/a
23	FOXM1	chr3:98624906-98625603	ECC-1	luminal epithelium:	n/a	n/a
24	NFIC	chr3:98624827-98625632	SK-N-SH	brain:	n/a	n/a
25	NR3C1	chr3:98625078-98625535	A549	lung:	n/a	n/a
26	REST	chr3:98624959-98625671	A549	lung:	n/a	n/a
27	POLR2A	chr3:98624917-98625563	U87	brain:	n/a	n/a
28	POLR2A	chr3:98624998-98625527	HCT-116	colon:	n/a	n/a
29	SP1	chr3:98624923-98625653	A549	lung:	n/a	n/a
30	POLR2A	chr3:98624945-98625557	U87	brain:	n/a	n/a
31	NR3C1	chr3:98625048-98625575	A549	lung:	n/a	n/a
32	RXRA	chr3:98624965-98625577	SK-N-SH	brain:	n/a	n/a
33	TCF12	chr3:98624817-98625712	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr3:98624945-98625532	SK-N-SH	brain:	n/a	n/a
35	FOSL2	chr3:98624829-98625651	SK-N-SH	brain:	n/a	chr3:98625032-98625041
36	NR3C1	chr3:98625020-98625579	A549	lung:	n/a	n/a
37	FOSL1	chr3:98624938-98625689	HCT-116	colon:	n/a	chr3:98625032-98625041
38	FOXA1	chr3:98625093-98625590	A549	lung:	n/a	chr3:98625262-98625274
39	JUND	chr3:98624908-98625638	SK-N-SH	brain:	n/a	chr3:98625032-98625041
40	JUND	chr3:98625041-98625579	A549	lung:	n/a	n/a
41	CTCF	chr3:98625340-98625490	AG04449	skin:	n/a	n/a
42	MEF2A	chr3:98624957-98625641	SK-N-SH	brain:	n/a	chr3:98625191-98625202 chr3:98625187-98625202 chr3:98625187-98625204 chr3:98625265-98625279
43	BCL3	chr3:98624874-98625661	A549	lung:	n/a	chr3:98625236-98625245 chr3:98625235-98625244
44	EP300	chr3:98624995-98625526	SK-N-SH_RA	brain:	n/a	n/a
45	CREB1	chr3:98625293-98625507	A549	lung:	n/a	n/a
46	TEAD4	chr3:98624998-98625523	A549	lung:	n/a	n/a
47	FOXM1	chr3:98624760-98625769	SK-N-SH	brain:	n/a	n/a
48	MEF2A	chr3:98624959-98625625	SK-N-SH	brain:	n/a	chr3:98625191-98625202 chr3:98625187-98625202 chr3:98625187-98625204 chr3:98625265-98625279
49	EP300	chr3:98624835-98625538	ECC-1	luminal epithelium:	n/a	n/a
50	GATA3	chr3:98624868-98625589	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:98620185..98622258-chr3:98623304..98625603,3	MCF-7	breast:
2	chr3:98609933..98612061-chr3:98623742..98626335,2	K562	blood:
3	chr3:98619082..98623514-chr3:98623819..98627236,6	K562	blood:

Variant related genes	Relation type
RNU6-1263P	TF binding region
DCBLD2	TF binding region
ENSG00000239462	Chromatin interaction
ENSG00000057019	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs58977425	0.91[AFR][1000 genomes]
rs59581962	0.91[AFR][1000 genomes]
rs72936622	0.82[AFR][1000 genomes]
rs72936644	0.82[AFR][1000 genomes]
rs72936652	0.82[AFR][1000 genomes]
rs72936657	0.82[AFR][1000 genomes]
rs72936667	0.82[AFR][1000 genomes]
rs72936668	0.82[AFR][1000 genomes]
rs72936670	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938535	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938539	0.91[AFR][1000 genomes]
rs72938557	0.91[AFR][1000 genomes]
rs72938573	0.91[AFR][1000 genomes]
rs72938584	0.91[AFR][1000 genomes]
rs72938585	0.91[AFR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98623000-98628000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:98623600-98636400	Weak transcription	Fetal Heart	heart
3	chr3:98624800-98625600	Enhancers	HUVEC	blood vessel
4	chr3:98624800-98626600	Enhancers	NHLF	lung
5	chr3:98625000-98625600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:98625000-98625600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:98625000-98625600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:98625000-98625600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:98625000-98625600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr3:98625000-98625600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:98625000-98625600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:98625000-98625600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:98625000-98625600	Enhancers	Hela-S3	cervix
14	chr3:98625000-98625600	Enhancers	HMEC	breast
15	chr3:98625000-98625600	Enhancers	HSMMtube	muscle
16	chr3:98625000-98625800	Flanking Active TSS	A549	lung
17	chr3:98625000-98626000	Flanking Active TSS	NH-A	brain
18	chr3:98625000-98626000	Enhancers	NHEK	skin
19	chr3:98625000-98626200	Enhancers	HSMM	muscle
20	chr3:98625000-98626400	Enhancers	Osteobl	bone
21	chr3:98625200-98625600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:98625200-98625600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:98625200-98625600	Flanking Active TSS	NHDF-Ad	bronchial
24	chr3:98625200-98626400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:98625400-98625600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr3:98625400-98626000	Enhancers	Ovary	ovary
27	chr3:98625400-98636600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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