Variant report

Variant	rs73454520
Chromosome Location	chr15:93421946-93421947
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	UBTF	chr15:93421676-93422481	K562	blood:	n/a	n/a
2	GATA1	chr15:93420919-93422547	PBDE	blood:	n/a	chr15:93421878-93421895 chr15:93422371-93422382 chr15:93421942-93421952
3	REST	chr15:93421730-93422196	K562	blood:	n/a	chr15:93421841-93421850
4	GATA2	chr15:93421661-93422030	K562	blood:	n/a	chr15:93421878-93421895 chr15:93421942-93421952
5	CBX3	chr15:93421480-93422569	K562	blood:	n/a	n/a
6	RCOR1	chr15:93421614-93422193	K562	blood:	n/a	n/a
7	JUND	chr15:93421755-93422360	K562	blood:	n/a	n/a
8	HEY1	chr15:93421766-93422152	K562	blood:	n/a	n/a
9	TBP	chr15:93421712-93422263	K562	blood:	n/a	n/a
10	USF1	chr15:93421695-93422315	K562	blood:	n/a	chr15:93422105-93422116
11	HMGN3	chr15:93421420-93422265	K562	blood:	n/a	n/a
12	ZNF143	chr15:93421738-93422321	K562	blood:	n/a	n/a
13	HCFC1	chr15:93421611-93422130	K562	blood:	n/a	n/a
14	BHLHE40	chr15:93421618-93422257	K562	blood:	n/a	n/a
15	USF1	chr15:93421856-93422300	H1-hESC	embryonic stem cell:	n/a	chr15:93422105-93422116
16	USF1	chr15:93421776-93422257	K562	blood:	n/a	chr15:93422105-93422116
17	EP300	chr15:93421723-93422363	K562	blood:	n/a	n/a
18	POLR2A	chr15:93421680-93422240	K562	blood:	n/a	n/a
19	ZNF263	chr15:93421736-93422604	HEK293-T-REx	kidney:	n/a	chr15:93421940-93421949 chr15:93422007-93422028 chr15:93421941-93421962
20	TBL1XR1	chr15:93421662-93422345	K562	blood:	n/a	n/a
21	MAZ	chr15:93421662-93422146	K562	blood:	n/a	chr15:93422104-93422117 chr15:93422106-93422115
22	TEAD4	chr15:93421510-93422389	K562	blood:	n/a	n/a
23	POLR2A	chr15:93421727-93422128	K562	blood:	n/a	n/a
24	SPI1	chr15:93421832-93422020	K562	blood:	n/a	n/a
25	ZNF384	chr15:93421816-93422655	K562	blood:	n/a	n/a
26	CCNT2	chr15:93421554-93422298	K562	blood:	n/a	chr15:93421878-93421898
27	MYC	chr15:93421727-93422322	K562	blood:	n/a	chr15:93422104-93422117 chr15:93422106-93422115
28	ZC3H11A	chr15:93421496-93422351	K562	blood:	n/a	n/a
29	ATF1	chr15:93421804-93422294	K562	blood:	n/a	n/a
30	RCOR1	chr15:93421599-93422480	K562	blood:	n/a	n/a
31	USF2	chr15:93421870-93422263	K562	blood:	n/a	n/a
32	TEAD4	chr15:93421605-93422277	K562	blood:	n/a	n/a
33	POLR2A	chr15:93421552-93422340	K562	blood:	n/a	n/a
34	GTF2B	chr15:93421768-93422126	K562	blood:	n/a	n/a
35	YY1	chr15:93421800-93422166	K562	blood:	n/a	n/a
36	JUN	chr15:93421608-93422363	K562	blood:	n/a	n/a
37	POLR2A	chr15:93421742-93422292	K562	blood:	n/a	n/a
38	MAX	chr15:93421556-93422227	K562	blood:	n/a	chr15:93422104-93422117 chr15:93422106-93422115
39	EP300	chr15:93421668-93422458	K562	blood:	n/a	n/a
40	GATA1	chr15:93421708-93422165	PBDEFetal	blood:	n/a	chr15:93421878-93421895 chr15:93421942-93421952
41	POLR2A	chr15:93421749-93422208	K562	blood:	n/a	n/a
42	NR2F2	chr15:93421710-93422127	K562	blood:	n/a	n/a
43	TBL1XR1	chr15:93421512-93422267	K562	blood:	n/a	n/a
44	TAL1	chr15:93421646-93422576	K562	blood:	n/a	chr15:93421878-93421896
45	ZMIZ1	chr15:93421736-93422327	K562	blood:	n/a	n/a
46	NR2F2	chr15:93421606-93422575	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:93392783..93395116-chr15:93420649..93423095,2	K562	blood:
2	chr15:93333327..93367027-chr15:93419774..93462750,363	K562	blood:
3	chr15:93344712..93371031-chr15:93418700..93467618,365	MCF-7	breast:
4	chr15:93337836..93370220-chr15:93420085..93452591,332	K562	blood:
5	chr15:93345383..93371459-chr15:93416796..93454653,318	MCF-7	breast:
6	chr15:93314139..93315981-chr15:93421509..93423581,2	MCF-7	breast:

Variant related genes	Relation type
CHD2	TF binding region
ENSG00000272888	TF binding region
ENSG00000258922	Chromatin interaction
ENSG00000185442	Chromatin interaction
ENSG00000258527	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs7170424	1.00[AMR][1000 genomes]
rs7178113	1.00[AMR][1000 genomes]
rs73456406	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456415	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456416	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456482	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
5	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv1047496	chr15:93412778-93475878	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1036560	chr15:93413594-93462163	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93412600-93425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:93413600-93425200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:93413800-93425200	Weak transcription	Left Ventricle	heart
4	chr15:93414000-93424200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr15:93418200-93423200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr15:93419800-93424200	Enhancers	HepG2	liver
7	chr15:93420000-93422200	Enhancers	Fetal Muscle Leg	muscle
8	chr15:93420000-93425200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr15:93420200-93422600	Enhancers	Fetal Intestine Large	intestine
10	chr15:93420200-93423200	Enhancers	Thymus	Thymus
11	chr15:93420200-93423600	Enhancers	Fetal Thymus	thymus
12	chr15:93420200-93425000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:93420200-93425000	Enhancers	Fetal Heart	heart
14	chr15:93420400-93423200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:93420400-93423200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:93420400-93424000	Weak transcription	Hela-S3	cervix
17	chr15:93420400-93425200	Weak transcription	Psoas Muscle	Psoas
18	chr15:93420600-93423600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr15:93420600-93424200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:93420600-93424600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:93420800-93422600	Enhancers	A549	lung
22	chr15:93420800-93423400	Enhancers	Primary T cells from cord blood	blood
23	chr15:93420800-93423800	Weak transcription	Fetal Stomach	stomach
24	chr15:93420800-93424200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr15:93421000-93423200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:93421000-93424000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:93421000-93424800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr15:93421200-93422200	Enhancers	Spleen	Spleen
29	chr15:93421200-93422600	Enhancers	Fetal Intestine Small	intestine
30	chr15:93421400-93424200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr15:93421400-93424200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr15:93421400-93424400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr15:93421400-93424600	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr15:93421400-93425200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:93421600-93422000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr15:93421600-93422200	Enhancers	H1 Cell Line	embryonic stem cell
37	chr15:93421600-93422200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr15:93421600-93422200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr15:93421600-93422200	Enhancers	Duodenum Mucosa	Duodenum
40	chr15:93421600-93422200	Enhancers	Pancreas	Pancrea
41	chr15:93421600-93422200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr15:93421600-93422200	Enhancers	Stomach Smooth Muscle	stomach
43	chr15:93421600-93422400	Enhancers	Fetal Kidney	kidney
44	chr15:93421600-93422400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr15:93421600-93422400	Enhancers	Stomach Mucosa	stomach
46	chr15:93421600-93422600	Flanking Active TSS	K562	blood
47	chr15:93421600-93422800	Weak transcription	Primary B cells from cord blood	blood
48	chr15:93421600-93424000	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr15:93421800-93422000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr15:93421800-93422000	Enhancers	Brain Cingulate Gyrus	brain

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