Variant report

Variant	rs10255839
Chromosome Location	chr7:27289117-27289118
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	REST	chr7:27288905-27289391	ECC-1	luminal epithelium:	n/a	n/a
2	SPI1	chr7:27288516-27289187	HL-60	blood:	n/a	chr7:27288990-27288997 chr7:27288666-27288679 chr7:27288989-27288998 chr7:27288987-27289000 chr7:27288988-27289001
3	PAX5	chr7:27289024-27289239	GM12892	blood:	n/a	n/a
4	REST	chr7:27289086-27289195	PANC-1	pancreas:	n/a	n/a
5	SUZ12	chr7:27288749-27293090	NT2-D1	testis:	n/a	n/a
6	SPI1	chr7:27288600-27289134	GM12878	blood:	n/a	chr7:27288990-27288997 chr7:27288666-27288679 chr7:27288989-27288998 chr7:27288987-27289000 chr7:27288988-27289001
7	REST	chr7:27289034-27289172	PANC-1	pancreas:	n/a	n/a
8	SUZ12	chr7:27287695-27290307	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr7:27288942-27289349	PANC-1	pancreas:	n/a	n/a
10	REST	chr7:27288877-27289379	ECC-1	luminal epithelium:	n/a	n/a
11	SPI1	chr7:27288743-27289198	HL-60	blood:	n/a	chr7:27288990-27288997 chr7:27288989-27288998 chr7:27288987-27289000 chr7:27288988-27289001

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27288720..27291227-chr7:27295247..27298125,2	K562	blood:
2	chr7:27287489..27291227-chr7:27295205..27298125,3	K562	blood:

Variant related genes	Relation type
EVX1-AS	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10807840	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1859666	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4722678	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6461997	0.80[EUR][1000 genomes]
rs6461998	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs757179	0.80[EUR][1000 genomes]
rs7782941	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7794193	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7808176	0.85[ASN][1000 genomes]
rs7808467	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
4	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
5	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887869	chr7:27135314-27297791	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
8	nsv1020608	chr7:27139892-27324004	Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv538807	chr7:27139892-27324004	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
10	nsv532118	chr7:27146920-27354205	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
11	nsv887879	chr7:27175295-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
12	esv1798853	chr7:27181568-27309266	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	150 gene(s)	inside rSNPs	diseases
13	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv887880	chr7:27205282-27294701	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
15	nsv887881	chr7:27205282-27297791	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
16	nsv887884	chr7:27206688-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
17	nsv887886	chr7:27215041-27297791	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
18	nsv887889	chr7:27220831-27297791	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
19	nsv887892	chr7:27223563-27297791	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
20	nsv519583	chr7:27243962-27298264	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27283600-27293600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:27286000-27291200	Weak transcription	Gastric	stomach
3	chr7:27286200-27291000	Weak transcription	Right Atrium	heart
4	chr7:27286200-27291200	Weak transcription	Pancreas	Pancrea
5	chr7:27288200-27289400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:27288200-27289600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
7	chr7:27288400-27289200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:27288400-27292200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr7:27288600-27289200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:27288600-27289200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
11	chr7:27288600-27289200	Bivalent Enhancer	Psoas Muscle	Psoas
12	chr7:27288600-27289200	Flanking Bivalent TSS/Enh	NHEK	skin
13	chr7:27288600-27289400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:27288800-27289200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:27288800-27289200	Bivalent Enhancer	Lung	lung
16	chr7:27288800-27289200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
17	chr7:27289000-27289200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:27289000-27289200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr7:27289000-27289200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:27289000-27289200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr7:27289000-27289200	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr7:27289000-27289200	Bivalent Enhancer	Thymus	Thymus
23	chr7:27289000-27289400	Bivalent Enhancer	HMEC	breast
24	chr7:27289000-27290000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:27289000-27290800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr7:27289000-27291000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:27289000-27292000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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