Variant report

Variant	rs72802493
Chromosome Location	chr2:47004209-47004210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:47003930-47004241	ECC-1	luminal epithelium:	n/a	n/a
2	SMC3	chr2:47003861-47004243	HepG2	liver:	n/a	n/a
3	CTCF	chr2:47003662-47004471	A549	lung:	n/a	n/a
4	RAD21	chr2:47003863-47004242	Hela-S3	cervix:	n/a	n/a
5	HCFC1	chr2:47003923-47004241	K562	blood:	n/a	n/a
6	RAD21	chr2:47003792-47004286	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr2:47003863-47004280	K562	blood:	n/a	n/a
8	FOSL2	chr2:47003936-47004300	MCF-7	breast:	n/a	n/a
9	CTCF	chr2:47003905-47004228	SK-N-SH_RA	brain:	n/a	n/a
10	RAD21	chr2:47003734-47004331	A549	lung:	n/a	n/a
11	YY1	chr2:47003872-47004220	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr2:47004080-47004230	HAc	cerebellar:	n/a	n/a
13	CTCF	chr2:47003863-47004278	GM12878	blood:	n/a	n/a
14	CTCF	chr2:47003882-47004238	K562	blood:	n/a	n/a
15	CTCF	chr2:47004080-47004230	WI-38	lung:	n/a	n/a
16	FOS	chr2:47003908-47004224	MCF10A-Er-Src	breast:	n/a	chr2:47004083-47004094
17	CTCF	chr2:47003857-47004242	MCF-7	breast:	n/a	n/a
18	RAD21	chr2:47003844-47004328	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr2:47003711-47004360	HepG2	liver:	n/a	n/a
20	JUND	chr2:47003955-47004235	HepG2	liver:	n/a	chr2:47004083-47004094
21	SMC3	chr2:47003475-47004406	SK-N-SH	brain:	n/a	n/a
22	JUND	chr2:47003923-47004241	H1-hESC	embryonic stem cell:	n/a	chr2:47004083-47004094
23	RAD21	chr2:47003659-47004866	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr2:47003842-47004266	K562	blood:	n/a	n/a
25	SMC3	chr2:47003865-47004258	GM12878	blood:	n/a	n/a
26	RAD21	chr2:47003891-47004244	A549	lung:	n/a	n/a
27	CREB1	chr2:47003841-47004322	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr2:47003843-47004416	HCT-116	colon:	n/a	n/a
29	CEBPB	chr2:47003768-47004251	A549	lung:	n/a	n/a
30	RAD21	chr2:47003833-47004339	ECC-1	luminal epithelium:	n/a	n/a
31	CTCF	chr2:47003864-47004226	K562	blood:	n/a	n/a
32	FOS	chr2:47003913-47004282	HUVEC	blood vessel:	n/a	chr2:47004083-47004094
33	CTCF	chr2:47003840-47004278	A549	lung:	n/a	n/a
34	SMC3	chr2:47003927-47004217	K562	blood:	n/a	n/a
35	RAD21	chr2:47003876-47004248	GM12878	blood:	n/a	n/a
36	RAD21	chr2:47003750-47004420	MCF-7	breast:	n/a	n/a
37	RFX5	chr2:47003864-47004215	Hela-S3	cervix:	n/a	n/a
38	RAD21	chr2:47003900-47004240	HepG2	liver:	n/a	n/a
39	CTCF	chr2:47003932-47004214	K562	blood:	n/a	n/a
40	FOS	chr2:47003899-47004223	MCF10A-Er-Src	breast:	n/a	chr2:47004083-47004094
41	CTCF	chr2:47003854-47004264	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr2:47003856-47004243	IMR90	lung:	n/a	n/a
43	CTCF	chr2:47003785-47004216	HepG2	liver:	n/a	n/a
44	RAD21	chr2:47003852-47004252	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr2:47003770-47004317	MCF-7	breast:	n/a	n/a
46	MYC	chr2:47003885-47004213	MCF10A-Er-Src	breast:	n/a	n/a
47	RAD21	chr2:47003782-47004318	MCF-7	breast:	n/a	n/a
48	JUN	chr2:47003943-47004211	K562	blood:	n/a	n/a
49	RAD21	chr2:47003897-47004274	H1-hESC	embryonic stem cell:	n/a	n/a
50	MAFK	chr2:47003927-47004235	K562	blood:	n/a	chr2:47004136-47004150

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46859166..46860148-chr2:47003282..47004503,4	K562	blood:
2	chr2:46890137..46890667-chr2:47003575..47004531,2	MCF-7	breast:
3	chr2:46883801..46884795-chr2:47003531..47004465,4	MCF-7	breast:
4	chr2:46877374..46878299-chr2:47003611..47004563,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260977	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10495937	1.00[ASN][1000 genomes]
rs1446496	1.00[ASN][1000 genomes]
rs1446497	1.00[ASN][1000 genomes]
rs1446498	1.00[ASN][1000 genomes]
rs17035524	1.00[ASN][1000 genomes]
rs17771098	1.00[ASN][1000 genomes]
rs17771201	1.00[ASN][1000 genomes]
rs17771942	1.00[ASN][1000 genomes]
rs17773016	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17823065	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17823581	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41453849	0.83[ASN][1000 genomes]
rs41489952	0.81[EUR][1000 genomes]
rs55928499	1.00[ASN][1000 genomes]
rs56060227	0.83[ASN][1000 genomes]
rs56199036	1.00[ASN][1000 genomes]
rs56800355	1.00[ASN][1000 genomes]
rs57124017	1.00[ASN][1000 genomes]
rs57420323	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58200475	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58362257	0.83[ASN][1000 genomes]
rs58509367	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58903656	1.00[ASN][1000 genomes]
rs59186028	1.00[ASN][1000 genomes]
rs59785662	1.00[ASN][1000 genomes]
rs59882453	0.83[ASN][1000 genomes]
rs60506146	1.00[ASN][1000 genomes]
rs61075718	0.83[ASN][1000 genomes]
rs61654472	0.83[ASN][1000 genomes]
rs72802441	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802445	1.00[ASN][1000 genomes]
rs72802456	1.00[ASN][1000 genomes]
rs72802458	1.00[ASN][1000 genomes]
rs72802462	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802463	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72802464	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802465	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802468	0.83[AMR][1000 genomes]
rs72802469	0.83[AMR][1000 genomes]
rs72802470	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72802486	1.00[ASN][1000 genomes]
rs72802487	1.00[ASN][1000 genomes]
rs72802492	1.00[ASN][1000 genomes]
rs72802498	1.00[ASN][1000 genomes]
rs72802499	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802501	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802502	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72804404	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72804430	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7566275	1.00[ASN][1000 genomes]
rs7578911	1.00[ASN][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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv213378	chr2:47001834-47006121	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
2	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:46987400-47005600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:46987400-47005600	Weak transcription	Left Ventricle	heart
5	chr2:46987600-47006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:46992400-47005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:46996000-47005200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:46998800-47005600	Weak transcription	Fetal Brain Male	brain
9	chr2:47000800-47005000	Weak transcription	HepG2	liver
10	chr2:47001000-47008600	Enhancers	Osteobl	bone
11	chr2:47002000-47004400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:47002000-47004600	Enhancers	A549	lung
13	chr2:47002600-47005400	Weak transcription	Right Ventricle	heart
14	chr2:47002800-47005400	Weak transcription	NHLF	lung
15	chr2:47002800-47005600	Weak transcription	Right Atrium	heart
16	chr2:47002800-47007000	Weak transcription	Ovary	ovary
17	chr2:47003200-47005400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:47003200-47005800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:47003800-47004400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:47004000-47005400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:47004000-47005600	Weak transcription	NHDF-Ad	bronchial
22	chr2:47004000-47006200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:47004000-47006600	Weak transcription	Colon Smooth Muscle	Colon

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