Variant report

Variant	rs72667765
Chromosome Location	chr4:87965942-87965943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr4:87965443-87966125	ECC-1	luminal epithelium:	n/a	n/a
2	WRNIP1	chr4:87965812-87965981	GM12878	blood:	n/a	n/a
3	ZMIZ1	chr4:87965782-87966087	K562	blood:	n/a	n/a
4	POLR2A	chr4:87965940-87966077	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr4:87965801-87966067	K562	blood:	n/a	n/a
6	EP300	chr4:87965316-87966618	ECC-1	luminal epithelium:	n/a	n/a
7	NFIC	chr4:87965471-87966084	ECC-1	luminal epithelium:	n/a	n/a
8	FOXM1	chr4:87965307-87966348	ECC-1	luminal epithelium:	n/a	n/a
9	TEAD4	chr4:87965411-87966075	ECC-1	luminal epithelium:	n/a	n/a
10	MXI1	chr4:87965480-87966635	SK-N-SH	brain:	n/a	n/a
11	TEAD4	chr4:87965402-87966477	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr4:87965821-87966258	K562	blood:	n/a	n/a
13	NFIC	chr4:87965426-87966089	ECC-1	luminal epithelium:	n/a	n/a
14	MAZ	chr4:87965777-87966401	K562	blood:	n/a	n/a
15	MYC	chr4:87965859-87966273	K562	blood:	n/a	n/a
16	ESR1	chr4:87965599-87965960	ECC-1	luminal epithelium:	n/a	n/a
17	ESR1	chr4:87965509-87965999	ECC-1	luminal epithelium:	n/a	n/a
18	CUX1	chr4:87965891-87966358	K562	blood:	n/a	n/a
19	POLR2A	chr4:87965523-87966476	K562	blood:	n/a	n/a
20	TEAD4	chr4:87965750-87966475	K562	blood:	n/a	n/a
21	RCOR1	chr4:87965624-87966403	K562	blood:	n/a	n/a
22	RCOR1	chr4:87965742-87966452	K562	blood:	n/a	n/a
23	GATA2	chr4:87965647-87966212	SH-SY5Y	brain:	n/a	chr4:87965884-87965893
24	GATA1	chr4:87965740-87966309	PBDE	blood:	n/a	chr4:87966242-87966252 chr4:87965884-87965893
25	MAX	chr4:87965368-87966202	ECC-1	luminal epithelium:	n/a	n/a
26	UBTF	chr4:87965873-87966394	K562	blood:	n/a	n/a
27	MYC	chr4:87965668-87966355	K562	blood:	n/a	n/a
28	TBL1XR1	chr4:87965898-87966744	K562	blood:	n/a	n/a
29	BHLHE40	chr4:87965842-87966629	K562	blood:	n/a	n/a
30	TCF12	chr4:87965312-87966581	ECC-1	luminal epithelium:	n/a	chr4:87965860-87965870
31	FOXM1	chr4:87965319-87966226	ECC-1	luminal epithelium:	n/a	n/a
32	JUND	chr4:87965856-87966676	K562	blood:	n/a	chr4:87966243-87966252
33	EP300	chr4:87965910-87966424	K562	blood:	n/a	n/a
34	POLR2A	chr4:87965650-87965994	GM12878	blood:	n/a	n/a
35	TCF12	chr4:87965480-87966502	ECC-1	luminal epithelium:	n/a	chr4:87965860-87965870
36	RAD21	chr4:87965555-87966407	ECC-1	luminal epithelium:	n/a	n/a
37	ARID3A	chr4:87965892-87966321	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87965831..87967908-chr4:87968487..87970739,2	MCF-7	breast:
2	chr4:87960365..87962821-chr4:87965345..87969600,5	K562	blood:
3	chr4:87925370..87929364-chr4:87963200..87966939,5	K562	blood:
4	chr4:87963284..87965045-chr4:87965190..87967797,2	K562	blood:
5	chr4:87960294..87962501-chr4:87964781..87966501,2	K562	blood:
6	chr4:87964446..87966356-chr4:87966393..87968677,2	MCF-7	breast:
7	chr4:87963142..87968842-chr4:87969641..87976222,9	K562	blood:
8	chr4:87965646..87968151-chr4:87970035..87972421,2	K562	blood:
9	chr4:87926139..87929364-chr4:87964361..87966939,5	K562	blood:

No data

Variant related genes	Relation type
AFF1	TF binding region
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10516788	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471251	0.98[ASN][1000 genomes]
rs17012234	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17012334	0.80[EUR][1000 genomes]
rs17604480	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17701999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17752307	0.80[ASN][1000 genomes]
rs2061498	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4693801	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55787557	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55816619	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55879154	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55913164	0.80[ASN][1000 genomes]
rs55982755	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56023922	0.82[ASN][1000 genomes]
rs56050898	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56201818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56390363	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56395939	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56406125	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6819155	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6840258	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6854749	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667747	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72667748	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72667750	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72667751	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72667752	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72667753	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72667754	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72667757	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72667759	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7665282	0.80[ASN][1000 genomes]
rs767315	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682652	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7695426	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv879525	chr4:87964363-88033352	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87952400-87967000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr4:87952600-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:87953400-87967600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:87958800-87968000	Weak transcription	Esophagus	oesophagus
5	chr4:87959200-87967000	Weak transcription	Dnd41	blood
6	chr4:87959400-87966400	Enhancers	Left Ventricle	heart
7	chr4:87959600-87967200	Enhancers	Psoas Muscle	Psoas
8	chr4:87959800-87966000	Weak transcription	Aorta	Aorta
9	chr4:87960400-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:87960400-87975400	Weak transcription	Brain Germinal Matrix	brain
11	chr4:87960800-87966000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr4:87960800-87968000	Weak transcription	HSMM	muscle
13	chr4:87961000-87979200	Weak transcription	HSMMtube	muscle
14	chr4:87961200-87967800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:87961600-87966000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:87961800-87966000	Weak transcription	Thymus	Thymus
17	chr4:87962200-87966400	Enhancers	Adipose Nuclei	Adipose
18	chr4:87962400-87966200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr4:87962400-87966400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:87962400-87967000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:87962400-87967000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:87962400-87967400	Enhancers	Right Ventricle	heart
23	chr4:87962800-87966200	Enhancers	Primary B cells from cord blood	blood
24	chr4:87963200-87967200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr4:87963200-87982200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:87963400-87966600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr4:87963400-87966600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:87963400-87966800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:87963400-87967200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:87963400-87967200	Enhancers	Primary hematopoietic stem cells	blood
31	chr4:87963600-87966000	Enhancers	HUVEC	blood vessel
32	chr4:87963600-87966400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:87963600-87966600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:87963600-87967400	Enhancers	Pancreas	Pancrea
35	chr4:87963600-87967600	Enhancers	Fetal Heart	heart
36	chr4:87963800-87966000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:87963800-87968000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:87964000-87966200	Enhancers	Fetal Kidney	kidney
39	chr4:87964000-87967200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:87964000-87967200	Enhancers	Lung	lung
41	chr4:87964200-87966000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:87964200-87966000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:87964200-87968000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:87964400-87966400	Enhancers	Fetal Lung	lung
45	chr4:87964600-87966400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr4:87964600-87966800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:87964600-87967000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:87964600-87967000	Weak transcription	Spleen	Spleen
49	chr4:87964600-87967400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr4:87964600-87967800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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