Variant report

Variant	rs73101732
Chromosome Location	chr20:25228246-25228247
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	CCNT2	chr20:25227947-25229451	K562	blood:	n/a	chr20:25229398-25229407
2	MXI1	chr20:25227853-25229524	Hela-S3	cervix:	n/a	n/a
3	NFIC	chr20:25227628-25228598	HepG2	liver:	n/a	n/a
4	MAX	chr20:25227734-25229632	MCF-7	breast:	n/a	chr20:25229402-25229412
5	REST	chr20:25227484-25228251	A549	lung:	n/a	n/a
6	SP1	chr20:25228233-25229146	A549	lung:	n/a	chr20:25228404-25228418 chr20:25229068-25229077 chr20:25229067-25229079
7	POLR2A	chr20:25227668-25228620	A549	lung:	n/a	n/a
8	EP300	chr20:25228200-25229685	ECC-1	luminal epithelium:	n/a	chr20:25228336-25228352 chr20:25228370-25228386 chr20:25229243-25229259
9	ELF1	chr20:25228039-25228620	GM12878	blood:	n/a	chr20:25228569-25228578
10	POLR2A	chr20:25228120-25229114	GM12878	blood:	n/a	n/a
11	TAF1	chr20:25227722-25229193	A549	lung:	n/a	n/a
12	POLR2A	chr20:25227358-25229473	MCF-7	breast:	n/a	n/a
13	POLR2A	chr20:25228195-25229126	U87	brain:	n/a	n/a
14	UBTF	chr20:25227726-25229649	K562	blood:	n/a	n/a
15	BHLHE40	chr20:25227796-25229055	K562	blood:	n/a	chr20:25228438-25228454
16	POLR2A	chr20:25226914-25229518	A549	lung:	n/a	n/a
17	MAZ	chr20:25227757-25229374	Hela-S3	cervix:	n/a	n/a
18	CTBP2	chr20:25227752-25228531	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr20:25227835-25229460	K562	blood:	n/a	chr20:25228371-25228383
20	TAF1	chr20:25228106-25229167	ECC-1	luminal epithelium:	n/a	n/a
21	RCOR1	chr20:25227702-25229660	K562	blood:	n/a	n/a
22	SIN3AK20	chr20:25227655-25229605	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr20:25227586-25229412	HepG2	liver:	n/a	n/a
24	CREB1	chr20:25227471-25229630	HepG2	liver:	n/a	n/a
25	BRCA1	chr20:25227868-25228449	HepG2	liver:	n/a	n/a
26	JUND	chr20:25227722-25228970	K562	blood:	n/a	n/a
27	ZBTB7A	chr20:25227590-25228487	ECC-1	luminal epithelium:	n/a	chr20:25228414-25228422
28	MAX	chr20:25227696-25229134	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr20:25227568-25229198	HCT-116	colon:	n/a	n/a
30	POLR2A	chr20:25227421-25229681	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr20:25227805-25228939	K562	blood:	n/a	n/a
32	NR2F2	chr20:25227616-25229060	MCF-7	breast:	n/a	n/a
33	MXI1	chr20:25227721-25229594	HepG2	liver:	n/a	n/a
34	POLR2A	chr20:25227393-25229182	HCT-116	colon:	n/a	n/a
35	MAX	chr20:25228181-25229259	MCF-7	breast:	n/a	n/a
36	POLR2A	chr20:25226835-25229543	A549	lung:	n/a	n/a
37	POLR2A	chr20:25227820-25229020	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr20:25228233-25229275	Hela-S3	cervix:	n/a	n/a
39	MYBL2	chr20:25227557-25228630	HepG2	liver:	n/a	n/a
40	CHD1	chr20:25227574-25230347	IMR90	lung:	n/a	chr20:25229396-25229406
41	CREB1	chr20:25227264-25229533	A549	lung:	n/a	n/a
42	RCOR1	chr20:25228230-25228430	GM12878	blood:	n/a	n/a
43	FOSL2	chr20:25227553-25228333	A549	lung:	n/a	n/a
44	MAX	chr20:25227434-25229693	HepG2	liver:	n/a	chr20:25229402-25229412
45	E2F6	chr20:25228243-25228489	K562	blood:	n/a	chr20:25228371-25228383
46	POLR2A	chr20:25227664-25229254	PBDE	blood:	n/a	n/a
47	TBL1XR1	chr20:25228170-25228344	GM12878	blood:	n/a	n/a
48	POLR2A	chr20:25227750-25229434	MCF-7	breast:	n/a	n/a
49	MAZ	chr20:25227768-25229241	HepG2	liver:	n/a	n/a
50	E2F6	chr20:25227764-25228656	A549	lung:	n/a	chr20:25228371-25228383

No.	Distal block	Cell Line	Cell type
1	chr20:25204037..25205721-chr20:25227160..25229400,2	K562	blood:
2	chr20:25208292..25210129-chr20:25227027..25228548,2	MCF-7	breast:
3	chr12:104531363..104532174-chr20:25228138..25229130,2	NB4	blood:
4	chr20:25057289..25058975-chr20:25226619..25228863,2	MCF-7	breast:
5	chr20:25204221..25206637-chr20:25227058..25229400,2	K562	blood:
6	chr20:25119470..25120469-chr20:25227465..25228346,4	MCF-7	breast:
7	chr20:25200007..25207026-chr20:25227086..25230373,11	MCF-7	breast:
8	chr20:25174902..25179249-chr20:25225017..25231959,9	MCF-7	breast:
9	chr20:25202506..25206898-chr20:25226343..25231297,7	MCF-7	breast:
10	chr20:24971946..24973582-chr20:25227704..25229248,2	MCF-7	breast:
11	chr12:53339776..53342666-chr20:25227973..25230849,2	MCF-7	breast:
12	chr20:25174010..25179528-chr20:25225802..25231331,13	MCF-7	breast:

Variant related genes	Relation type
PYGB	TF binding region
ENSG00000101474	Chromatin interaction
ENSG00000100987	Chromatin interaction
ENSG00000111057	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000197586	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56129418	0.83[AMR][1000 genomes]
rs56291736	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6050456	0.83[EUR][1000 genomes]
rs6107016	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6107023	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6107024	0.87[EUR][1000 genomes]
rs6115092	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6115097	0.85[EUR][1000 genomes]
rs6115115	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6115130	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6115142	0.88[EUR][1000 genomes]
rs6115145	0.88[EUR][1000 genomes]
rs6115151	0.85[EUR][1000 genomes]
rs6115154	0.85[EUR][1000 genomes]
rs66638809	0.87[EUR][1000 genomes]
rs73107411	0.85[EUR][1000 genomes]
rs8119343	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1063494	chr20:25067286-25468557	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv1063016	chr20:25067286-25475629	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
6	nsv1065101	chr20:25068046-25466542	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv544220	chr20:25068046-25466542	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv531480	chr20:25070067-25472684	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv585746	chr20:25071454-25470056	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
10	nsv1062742	chr20:25071454-25475629	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	nsv949389	chr20:25071454-25506582	Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv531481	chr20:25080583-25448944	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv949479	chr20:25096494-25467359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
14	nsv1061109	chr20:25101715-25472685	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
15	nsv544221	chr20:25101715-25472685	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
16	nsv1066667	chr20:25133066-25238976	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
17	nsv544222	chr20:25133066-25238976	Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv828708	chr20:25223895-25231601	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr20:25227000-25228400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr20:25227000-25228600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr20:25227200-25228400	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr20:25227400-25228400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:25227400-25228400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr20:25227400-25228400	Flanking Active TSS	Osteobl	bone
7	chr20:25227400-25228600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr20:25227400-25228600	Flanking Active TSS	Colonic Mucosa	Colon
9	chr20:25227400-25228600	Flanking Active TSS	NHLF	lung
10	chr20:25227600-25228400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr20:25227600-25228400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr20:25227600-25228400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr20:25227600-25228400	Flanking Active TSS	Liver	Liver
14	chr20:25227600-25228400	Flanking Active TSS	GM12878-XiMat	blood
15	chr20:25227600-25228600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:25227600-25228600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr20:25227600-25228600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr20:25227600-25228600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr20:25227600-25228600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr20:25227600-25228600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr20:25227600-25228600	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr20:25227600-25229600	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr20:25227600-25229800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr20:25227600-25229800	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr20:25227600-25230000	Active TSS	Fetal Brain Female	brain
26	chr20:25227600-25230200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr20:25227600-25231200	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr20:25227800-25228400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr20:25227800-25228400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr20:25227800-25228400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr20:25227800-25228400	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr20:25227800-25228400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr20:25227800-25228400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr20:25227800-25228400	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr20:25227800-25228400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr20:25227800-25228400	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr20:25227800-25228400	Flanking Active TSS	Placenta	Placenta
38	chr20:25227800-25228400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr20:25227800-25228400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
40	chr20:25227800-25228400	Flanking Bivalent TSS/Enh	Dnd41	blood
41	chr20:25227800-25228600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr20:25227800-25228600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr20:25227800-25228600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr20:25227800-25228600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr20:25227800-25228800	Weak transcription	Fetal Heart	heart
46	chr20:25227800-25229200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr20:25227800-25229600	Active TSS	Fetal Intestine Small	intestine
48	chr20:25227800-25229600	Active TSS	Fetal Kidney	kidney
49	chr20:25227800-25229800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr20:25227800-25229800	Active TSS	Small Intestine	intestine

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