Variant report

Variant	rs72667748
Chromosome Location	chr4:87927034-87927035
allele	C/T
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	MAFK	chr4:87926346-87929776	GM12878	blood:	n/a	chr4:87929083-87929094 chr4:87929086-87929100 chr4:87929083-87929103 chr4:87929082-87929097 chr4:87929085-87929101
2	POLR2A	chr4:87926580-87929521	PBDE	blood:	n/a	n/a
3	FOXM1	chr4:87926752-87929162	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:87926925-87927561	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:87925639-87929947	K562	blood:	n/a	n/a
6	POLR2A	chr4:87926818-87929107	GM19099	blood:	n/a	n/a
7	ZNF384	chr4:87926706-87927170	K562	blood:	n/a	n/a
8	POLR2A	chr4:87926987-87928739	GM12878	blood:	n/a	n/a
9	SREBP1	chr4:87926438-87929563	GM12878	blood:	n/a	n/a
10	CTCF	chr4:87926860-87927106	GM12878	blood:	n/a	n/a
11	RUNX3	chr4:87926629-87928848	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:87926930-87928801	GM15510	blood:	n/a	n/a
13	POLR2A	chr4:87926982-87929135	K562	blood:	n/a	n/a
14	SIN3A	chr4:87926852-87929320	GM12878	blood:	n/a	chr4:87929195-87929205 chr4:87928289-87928302 chr4:87927491-87927501
15	MXI1	chr4:87926748-87928715	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:87926897-87928894	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr4:87926776-87928693	GM12891	blood:	n/a	n/a
18	MAX	chr4:87926870-87928770	GM12878	blood:	n/a	n/a
19	MAX	chr4:87926715-87929331	NB4	blood:	n/a	n/a
20	ATF2	chr4:87926407-87927272	GM12878	blood:	n/a	n/a
21	RELA	chr4:87926273-87929243	GM15510	blood:	n/a	n/a
22	IRF1	chr4:87926601-87927206	K562	blood:	n/a	n/a
23	JUND	chr4:87926745-87929522	K562	blood:	n/a	chr4:87929020-87929028 chr4:87927686-87927695
24	JUND	chr4:87926785-87929572	SK-N-SH	brain:	n/a	chr4:87929020-87929028 chr4:87927686-87927695
25	TCF7L2	chr4:87926666-87927132	HEK293	kidney:	n/a	n/a
26	STAT5A	chr4:87926851-87927782	GM12878	blood:	n/a	chr4:87927695-87927706
27	ZNF274	chr4:87926867-87927289	K562	blood:	n/a	n/a
28	NRF1	chr4:87926875-87928504	GM12878	blood:	n/a	chr4:87927939-87927948
29	EP300	chr4:87926599-87927186	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr4:87926427-87929240	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:87926855-87928768	GM12891	blood:	n/a	n/a
32	POLR2A	chr4:87926538-87929473	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr4:87926858-87928601	GM12891	blood:	n/a	n/a
34	TAF1	chr4:87926877-87927148	GM12891	blood:	n/a	n/a
35	NFATC1	chr4:87926744-87928325	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:87926859-87928645	Raji	blood:	n/a	n/a
37	POLR2A	chr4:87926873-87928678	GM12878	blood:	n/a	n/a
38	NFIC	chr4:87926406-87928901	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:87926259-87929411	Hela-S3	cervix:	n/a	n/a
40	POU2F2	chr4:87926789-87928765	GM12878	blood:	n/a	chr4:87927832-87927843 chr4:87927833-87927843 chr4:87927828-87927841 chr4:87927827-87927848 chr4:87927828-87927841 chr4:87927834-87927842
41	STAT1	chr4:87926819-87927468	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:87926754-87928721	GM12892	blood:	n/a	n/a
43	IRF4	chr4:87926728-87927365	GM12878	blood:	n/a	n/a
44	EP300	chr4:87926728-87928569	GM12878	blood:	n/a	chr4:87928145-87928159 chr4:87927804-87927820 chr4:87927690-87927704
45	RCOR1	chr4:87926826-87928526	GM12878	blood:	n/a	n/a
46	EBF1	chr4:87926609-87927327	GM12878	blood:	n/a	n/a
47	PAX5	chr4:87926717-87927126	GM12878	blood:	n/a	n/a
48	STAT3	chr4:87926564-87927972	GM12878	blood:	n/a	chr4:87927695-87927706
49	SMC3	chr4:87926647-87928603	GM12878	blood:	n/a	chr4:87927960-87927968
50	POLR2A	chr4:87926699-87929233	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:87925728..87928090-chr4:88141264..88142892,2	MCF-7	breast:
2	chr4:87851729..87853326-chr4:87926399..87928104,2	MCF-7	breast:
3	chr4:87925271..87927953-chr4:88006288..88008752,2	K562	blood:
4	chr4:87927007..87928738-chr4:87968800..87971824,3	K562	blood:
5	chr4:87925271..87928107-chr4:88005926..88008504,3	K562	blood:
6	chr4:87926465..87928087-chr4:88020560..88022641,2	K562	blood:
7	chr4:87906409..87908323-chr4:87926209..87928101,2	MCF-7	breast:
8	chr4:87926172..87928696-chr7:150019642..150022141,2	MCF-7	breast:
9	chr4:87845889..87863516-chr4:87925389..87935181,79	K562	blood:
10	chr4:87853395..87861870-chr4:87925425..87930611,18	MCF-7	breast:
11	chr4:87926596..87928915-chr4:87970659..87972204,2	MCF-7	breast:
12	chr4:87926199..87928138-chr4:87938575..87940535,2	MCF-7	breast:
13	chr4:87925170..87928506-chr4:88140421..88143207,4	MCF-7	breast:
14	chr4:87854708..87860113-chr4:87926348..87930107,23	MCF-7	breast:
15	chr4:87853595..87871697-chr4:87924007..87941983,77	K562	blood:
16	chr4:87925063..87927855-chr4:88154539..88157120,2	MCF-7	breast:

Variant related genes	Relation type
AFF1	TF binding region
ENSG00000145332	Chromatin interaction
ENSG00000163633	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000106526	Chromatin interaction
ENSG00000235043	Chromatin interaction
ENSG00000127399	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10516785	0.86[ASN][1000 genomes]
rs10516786	0.86[ASN][1000 genomes]
rs10516788	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1471251	0.86[ASN][1000 genomes]
rs17012170	0.81[ASN][1000 genomes]
rs17012200	0.87[ASN][1000 genomes]
rs17012213	0.87[ASN][1000 genomes]
rs17012216	0.86[ASN][1000 genomes]
rs17012234	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17604480	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17701999	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17752307	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4693795	0.83[ASN][1000 genomes]
rs4693801	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55787557	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55851914	0.86[ASN][1000 genomes]
rs55879154	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55913164	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56023922	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56050898	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56201818	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56378441	0.84[ASN][1000 genomes]
rs56390363	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56395939	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56406125	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6819155	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6840258	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6854749	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72667735	0.87[ASN][1000 genomes]
rs72667736	0.87[ASN][1000 genomes]
rs72667737	0.87[ASN][1000 genomes]
rs72667739	0.87[ASN][1000 genomes]
rs72667741	0.84[ASN][1000 genomes]
rs72667747	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667750	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667751	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72667752	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72667753	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72667754	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72667757	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72667759	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72667765	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7665282	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs767315	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7682652	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7695426	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87914200-87927400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:87916200-87927200	Weak transcription	Esophagus	oesophagus
3	chr4:87916400-87927200	Weak transcription	Gastric	stomach
4	chr4:87919200-87927400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:87923200-87927200	Weak transcription	Ovary	ovary
6	chr4:87924600-87927400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:87925200-87927400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:87926000-87927600	Flanking Active TSS	GM12878-XiMat	blood
9	chr4:87926200-87927200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:87926200-87927200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:87926200-87927200	Flanking Active TSS	NHDF-Ad	bronchial
12	chr4:87926200-87927400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:87926200-87927400	Enhancers	Small Intestine	intestine
14	chr4:87926200-87927400	Flanking Active TSS	Dnd41	blood
15	chr4:87926200-87927600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:87926200-87927600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr4:87926200-87927600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:87926200-87927800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:87926400-87927200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr4:87926400-87927200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr4:87926400-87927200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr4:87926400-87927200	Enhancers	Fetal Heart	heart
23	chr4:87926400-87927200	Enhancers	Fetal Muscle Leg	muscle
24	chr4:87926400-87927200	Enhancers	Stomach Mucosa	stomach
25	chr4:87926400-87927400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:87926400-87927400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr4:87926400-87927400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr4:87926400-87927600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr4:87926400-87927800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr4:87926600-87927200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:87926600-87927200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr4:87926600-87927200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:87926600-87927200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:87926600-87927200	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr4:87926600-87927200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr4:87926600-87927200	Weak transcription	Spleen	Spleen
37	chr4:87926600-87927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:87926600-87927400	Flanking Active TSS	HepG2	liver
39	chr4:87926600-87927400	Flanking Active TSS	NHLF	lung
40	chr4:87926600-87927600	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr4:87926600-87927600	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr4:87926600-87927600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr4:87926600-87927600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:87926600-87927600	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr4:87926600-87927600	Flanking Active TSS	Fetal Thymus	thymus
46	chr4:87926600-87927800	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr4:87926600-87929400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:87926800-87927200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:87926800-87927200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:87926800-87927200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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