Variant report

Variant	rs867053
Chromosome Location	chr10:5887170-5887171
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	SPI1	chr10:5887039-5887231	K562	blood:	n/a	n/a
2	SMC3	chr10:5887052-5887203	GM12878	blood:	n/a	n/a
3	EP300	chr10:5887011-5887332	K562	blood:	n/a	n/a
4	USF1	chr10:5886999-5887302	ECC-1	luminal epithelium:	n/a	chr10:5887189-5887202 chr10:5887189-5887200 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
5	YY1	chr10:5887061-5887265	K562	blood:	n/a	n/a
6	YY1	chr10:5886991-5887338	GM12878	blood:	n/a	n/a
7	ZNF384	chr10:5886979-5887490	GM12878	blood:	n/a	n/a
8	KAP1	chr10:5886659-5887465	U2OS	brain:	n/a	n/a
9	USF1	chr10:5887059-5887295	HepG2	liver:	n/a	chr10:5887189-5887202 chr10:5887189-5887200 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
10	POLR2A	chr10:5885729-5887374	GM12891	blood:	n/a	n/a
11	ARID3A	chr10:5887078-5887316	K562	blood:	n/a	n/a
12	TEAD4	chr10:5886876-5887372	K562	blood:	n/a	n/a
13	POLR2A	chr10:5886342-5887529	Raji	blood:	n/a	n/a
14	USF1	chr10:5886993-5887371	ECC-1	luminal epithelium:	n/a	chr10:5887189-5887202 chr10:5887189-5887200 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
15	POLR2A	chr10:5887113-5887371	K562	blood:	n/a	n/a
16	USF1	chr10:5886814-5887371	K562	blood:	n/a	chr10:5887189-5887202 chr10:5887189-5887200 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
17	USF1	chr10:5887104-5887252	HepG2	liver:	n/a	chr10:5887189-5887202 chr10:5887189-5887200 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
18	ZNF384	chr10:5886961-5887535	K562	blood:	n/a	n/a
19	USF2	chr10:5887144-5887222	HepG2	liver:	n/a	chr10:5887189-5887202 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
20	ELF1	chr10:5887006-5887302	K562	blood:	n/a	n/a
21	USF1	chr10:5887097-5887229	GM12878	blood:	n/a	chr10:5887189-5887202 chr10:5887189-5887200 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
22	USF2	chr10:5886990-5887356	GM12878	blood:	n/a	chr10:5887189-5887202 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
23	MAX	chr10:5887007-5887345	K562	blood:	n/a	chr10:5887191-5887200
24	USF1	chr10:5887063-5887224	GM12878	blood:	n/a	chr10:5887189-5887202 chr10:5887189-5887200 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
25	MYC	chr10:5887051-5887237	K562	blood:	n/a	chr10:5887191-5887200
26	USF1	chr10:5887060-5887308	SK-N-SH_RA	brain:	n/a	chr10:5887189-5887202 chr10:5887189-5887200 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
27	TBL1XR1	chr10:5886791-5887259	GM12878	blood:	n/a	n/a
28	USF1	chr10:5886982-5887348	SK-N-SH_RA	brain:	n/a	chr10:5887189-5887202 chr10:5887189-5887200 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
29	HCFC1	chr10:5887030-5887249	K562	blood:	n/a	n/a
30	MYC	chr10:5887049-5887336	K562	blood:	n/a	chr10:5887191-5887200
31	CHD1	chr10:5886939-5887243	GM12878	blood:	n/a	n/a
32	TBP	chr10:5887087-5887307	K562	blood:	n/a	n/a
33	SPI1	chr10:5887014-5887227	GM12891	blood:	n/a	n/a
34	ZMIZ1	chr10:5887152-5887312	K562	blood:	n/a	n/a
35	BHLHE40	chr10:5886727-5887382	K562	blood:	n/a	chr10:5887189-5887202 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
36	ATF3	chr10:5887049-5887248	K562	blood:	n/a	chr10:5887191-5887200 chr10:5887191-5887211
37	KAP1	chr10:5886979-5887373	HEK293	kidney:	n/a	n/a
38	MTA3	chr10:5885741-5887324	GM12878	blood:	n/a	n/a
39	USF2	chr10:5887016-5887339	K562	blood:	n/a	chr10:5887189-5887202 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
40	BHLHE40	chr10:5886564-5887354	GM12878	blood:	n/a	chr10:5887189-5887202 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
41	USF1	chr10:5887036-5887360	SK-N-SH	brain:	n/a	chr10:5887189-5887202 chr10:5887189-5887200 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
42	WRNIP1	chr10:5886748-5887238	GM12878	blood:	n/a	n/a
43	MAX	chr10:5887041-5887348	K562	blood:	n/a	chr10:5887191-5887200
44	YY1	chr10:5886996-5887235	GM12892	blood:	n/a	n/a
45	USF1	chr10:5886906-5887432	K562	blood:	n/a	chr10:5887189-5887202 chr10:5887189-5887200 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
46	FOXM1	chr10:5886553-5887273	GM12878	blood:	n/a	n/a
47	RUNX3	chr10:5886670-5887312	GM12878	blood:	n/a	n/a
48	RCOR1	chr10:5886978-5887339	K562	blood:	n/a	n/a
49	JUND	chr10:5887051-5887253	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5860095..5862542-chr10:5886681..5888594,2	MCF-7	breast:
2	chr10:5854620..5857118-chr10:5886149..5888419,4	K562	blood:
3	chr10:5874603..5876795-chr10:5886014..5887751,3	MCF-7	breast:
4	chr10:5886207..5890565-chr10:5893992..5897304,3	K562	blood:
5	chr10:5868411..5871104-chr10:5884225..5887747,3	K562	blood:
6	chr10:5852473..5857853-chr10:5880942..5888645,8	MCF-7	breast:
7	chr10:5851570..5858995-chr10:5881654..5887342,9	K562	blood:

Variant related genes	Relation type
GDI2	TF binding region
ENSG00000057608	Chromatin interaction
ENSG00000272764	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10795590	0.81[EUR][1000 genomes]
rs11255527	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11255548	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11255564	0.81[EUR][1000 genomes]
rs11255581	0.82[EUR][1000 genomes]
rs11819695	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12253826	0.80[EUR][1000 genomes]
rs12359234	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12769593	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12777477	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12779398	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12780246	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2380201	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2380205	0.81[EUR][1000 genomes]
rs3954757	0.81[EUR][1000 genomes]
rs4009521	0.81[EUR][1000 genomes]
rs4256891	0.81[EUR][1000 genomes]
rs4282894	0.81[EUR][1000 genomes]
rs4287254	0.81[EUR][1000 genomes]
rs4428973	0.84[EUR][1000 genomes]
rs713588	0.81[EUR][1000 genomes]
rs7894083	0.80[EUR][1000 genomes]
rs7897260	0.81[EUR][1000 genomes]
rs7898042	0.81[EUR][1000 genomes]
rs7898059	0.81[EUR][1000 genomes]
rs7903875	0.80[EUR][1000 genomes]
rs7907795	0.81[EUR][1000 genomes]
rs7907914	0.81[EUR][1000 genomes]
rs7915822	1.00[ASN][1000 genomes]
rs867052	0.81[EUR][1000 genomes]
rs907690	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv5654	chr10:5868365-5930634	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv982902	chr10:5872818-5889953	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3342274	chr10:5875995-5901345	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1794948	chr10:5880066-5892545	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1795821	chr10:5880066-5893268	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1801910	chr10:5881740-5898882	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1801679	chr10:5883033-5891501	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv1793088	chr10:5883308-5892545	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3528067	chr10:5884196-5893994	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3528068	chr10:5884196-5893994	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv1802022	chr10:5886149-5891501	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv1850053	chr10:5886435-5892515	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5882600-5888000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:5882800-5888200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr10:5883200-5888000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:5883200-5897000	Enhancers	Primary B cells from peripheral blood	blood
5	chr10:5883400-5889000	Enhancers	Primary B cells from cord blood	blood
6	chr10:5883800-5888000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr10:5884000-5887400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr10:5886000-5887200	Flanking Active TSS	GM12878-XiMat	blood
9	chr10:5886000-5888200	Enhancers	HepG2	liver
10	chr10:5886200-5887200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr10:5886200-5889400	Enhancers	Placenta	Placenta
12	chr10:5886400-5887200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:5886400-5887400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:5886400-5887600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr10:5886400-5888600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:5886600-5887200	Enhancers	Ovary	ovary
17	chr10:5886600-5887200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr10:5886600-5887200	Enhancers	NHEK	skin
19	chr10:5886600-5888400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:5886800-5887200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:5886800-5887200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:5886800-5887200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:5886800-5887200	Enhancers	Brain Angular Gyrus	brain
24	chr10:5886800-5887200	Enhancers	Left Ventricle	heart
25	chr10:5886800-5887200	Enhancers	HMEC	breast
26	chr10:5886800-5887200	Flanking Active TSS	K562	blood
27	chr10:5886800-5887200	Enhancers	NHLF	lung
28	chr10:5886800-5887400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr10:5886800-5887600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:5886800-5887600	Enhancers	NHDF-Ad	bronchial
31	chr10:5887000-5887200	Flanking Active TSS	Fetal Heart	heart
32	chr10:5887000-5887400	Enhancers	Adipose Nuclei	Adipose
33	chr10:5887000-5887400	Enhancers	Colon Smooth Muscle	Colon
34	chr10:5887000-5887400	Enhancers	Duodenum Mucosa	Duodenum
35	chr10:5887000-5887600	Enhancers	Fetal Muscle Trunk	muscle
36	chr10:5887000-5888200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr10:5887000-5888800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:5887000-5888800	Enhancers	Fetal Muscle Leg	muscle
39	chr10:5887000-5889400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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