Variant report

Variant	rs6889857
Chromosome Location	chr5:92915502-92915503
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	SIN3AK20	chr5:92914746-92916298	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr5:92915415-92917945	HUVEC	blood vessel:	n/a	n/a
3	RAD21	chr5:92914492-92919167	SK-N-SH	brain:	n/a	chr5:92915472-92915482 chr5:92915301-92915314 chr5:92917255-92917274
4	MAX	chr5:92915424-92917452	SK-N-SH	brain:	n/a	n/a
5	GATA2	chr5:92915443-92917927	SH-SY5Y	brain:	n/a	chr5:92917881-92917894
6	REST	chr5:92915467-92915652	SK-N-SH	brain:	n/a	n/a
7	MAX	chr5:92915457-92916462	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:92913393-92917450	IMR90	lung:	n/a	n/a
9	MAX	chr5:92914279-92917424	NB4	blood:	n/a	chr5:92914880-92914890
10	POLR2A	chr5:92915467-92917943	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr5:92915383-92918020	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr5:92915344-92917615	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr5:92915457-92917108	ProgFib	skin:	n/a	n/a
14	POLR2A	chr5:92915350-92917402	H1-neurons	neurons:	n/a	n/a
15	CTCF	chr5:92915500-92915650	AG04449	skin:	n/a	n/a
16	MAX	chr5:92915411-92917480	A549	lung:	n/a	n/a
17	RAD21	chr5:92915347-92917454	SK-N-SH_RA	brain:	n/a	chr5:92915472-92915482 chr5:92917255-92917274
18	RAD21	chr5:92915417-92915992	SK-N-SH_RA	brain:	n/a	chr5:92915472-92915482
19	CTCF	chr5:92915500-92915650	HCFaa	heart:	n/a	n/a
20	POLR2A	chr5:92915423-92916490	HUVEC	blood vessel:	n/a	n/a
21	TCF12	chr5:92915441-92919825	A549	lung:	n/a	chr5:92918800-92918810
22	POLR2A	chr5:92915335-92918086	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr5:92915369-92918095	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr5:92915477-92917955	U87	brain:	n/a	n/a
25	E2F6	chr5:92915422-92916177	H1-hESC	embryonic stem cell:	n/a	chr5:92915952-92915961 chr5:92915855-92915862 chr5:92915855-92915862 chr5:92915467-92915479 chr5:92915545-92915555 chr5:92915470-92915479 chr5:92915855-92915862 chr5:92915854-92915866 chr5:92915854-92915862 chr5:92915854-92915863
26	SUZ12	chr5:92914551-92917358	NT2-D1	testis:	n/a	n/a
27	POLR2A	chr5:92915477-92917977	U87	brain:	n/a	n/a
28	MAX	chr5:92915460-92916445	HepG2	liver:	n/a	n/a
29	GATA3	chr5:92915442-92915732	T-47D	breast:	n/a	n/a
30	TCF12	chr5:92915502-92915745	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAZ	chr5:92913694-92918108	IMR90	lung:	n/a	chr5:92914880-92914890
32	MAX	chr5:92915411-92917476	A549	lung:	n/a	n/a
33	CTBP2	chr5:92914638-92917977	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr5:92914716-92916053	NB4	blood:	n/a	n/a
35	POLR2A	chr5:92915496-92916445	MCF-7	breast:	n/a	n/a
36	PBX3	chr5:92915354-92916051	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr5:92915422-92916051	HUVEC	blood vessel:	n/a	n/a
38	SUZ12	chr5:92915470-92917364	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr5:92915422-92917922	IMR90	lung:	n/a	chr5:92915472-92915482 chr5:92917255-92917274
40	POLR2A	chr5:92915341-92917514	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr5:92914710-92917481	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr5:92915380-92917981	SK-N-SH	brain:	n/a	chr5:92917256-92917277 chr5:92917254-92917272 chr5:92917255-92917271 chr5:92915472-92915485
43	CHD1	chr5:92912776-92927520	IMR90	lung:	n/a	chr5:92914877-92914887 chr5:92926304-92926314 chr5:92917311-92917321 chr5:92918655-92918665 chr5:92918684-92918694 chr5:92920697-92920707 chr5:92920384-92920394 chr5:92915468-92915478 chr5:92917327-92917337 chr5:92920376-92920386
44	ZNF263	chr5:92915496-92920299	HEK293-T-REx	kidney:	n/a	chr5:92920015-92920024 chr5:92917326-92917335 chr5:92918616-92918625 chr5:92917212-92917221
45	MAX	chr5:92915458-92916398	H1-hESC	embryonic stem cell:	n/a	n/a
46	SMC3	chr5:92914300-92920526	SK-N-SH	brain:	n/a	chr5:92915792-92915800 chr5:92915472-92915482 chr5:92917256-92917270
47	MAX	chr5:92915477-92916287	MCF-7	breast:	n/a	n/a
48	POLR2A	chr5:92915388-92917963	SK-N-MC	brain:	n/a	n/a
49	MYC	chr5:92914602-92916344	NB4	blood:	n/a	chr5:92914880-92914890
50	POLR2A	chr5:92914910-92917398	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:30192477..30192989-chr5:92915117..92915645,2	NB4	blood:
2	chr5:92914959..92917781-chr5:92918156..92922060,3	MCF-7	breast:

Variant related genes	Relation type
NR2F1	TF binding region
ENSG00000175745	Chromatin interaction
ENSG00000237187	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11135388	0.82[EUR][1000 genomes]
rs11952115	0.84[EUR][1000 genomes]
rs11952600	0.81[EUR][1000 genomes]
rs11960608	0.84[EUR][1000 genomes]
rs12186735	0.93[ASN][1000 genomes]
rs12187239	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188716	0.93[ASN][1000 genomes]
rs12188845	0.81[EUR][1000 genomes]
rs12188905	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370977	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1457101	0.82[EUR][1000 genomes]
rs17082127	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17082129	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083155	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17083181	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083191	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083194	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083198	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083200	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083213	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083228	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17370695	0.93[ASN][1000 genomes]
rs1824153	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1844343	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083227	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279473	0.93[ASN][1000 genomes]
rs2344387	0.81[EUR][1000 genomes]
rs3776601	0.93[ASN][1000 genomes]
rs57165666	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57690257	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59360932	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61324921	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61352323	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556823	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6556824	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866771	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879816	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880843	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133214	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133217	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133226	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133228	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133239	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133251	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133258	0.81[EUR][1000 genomes]
rs73133261	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133265	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133275	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133278	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133280	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133282	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133283	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133287	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133289	1.00[ASN][1000 genomes]
rs73133292	1.00[ASN][1000 genomes]
rs73133301	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135313	0.85[EUR][1000 genomes]
rs73135320	0.93[ASN][1000 genomes]
rs73135321	0.93[ASN][1000 genomes]
rs73772907	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7712899	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715034	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7727107	0.81[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	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv1819334	chr5:92892591-92956733	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv882383	chr5:92895401-92928346	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv823130	chr5:92896346-92966016	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv4918	chr5:92898426-92943359	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv823132	chr5:92898512-92969668	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92913800-92915800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
2	chr5:92913800-92923200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:92914000-92919800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
4	chr5:92914000-92919800	Active TSS	Fetal Kidney	kidney
5	chr5:92914000-92925800	Active TSS	Brain Angular Gyrus	brain
6	chr5:92914200-92915600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
7	chr5:92914200-92915600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr5:92914200-92915600	Enhancers	Spleen	Spleen
9	chr5:92914200-92915800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:92914200-92916000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:92914200-92916000	Active TSS	Brain Hippocampus Middle	brain
12	chr5:92914200-92916200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr5:92914200-92917800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr5:92914200-92919800	Bivalent/Poised TSS	Fetal Stomach	stomach
15	chr5:92914200-92921600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:92914200-92926200	Active TSS	Fetal Brain Female	brain
17	chr5:92914400-92915600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
18	chr5:92914400-92916000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr5:92914400-92916200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr5:92914400-92916200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
21	chr5:92914400-92917000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr5:92914400-92922200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:92914400-92922800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:92914600-92915600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr5:92914600-92915800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
26	chr5:92914600-92916000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr5:92914600-92916000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
28	chr5:92914600-92916400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
29	chr5:92914600-92916800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr5:92914600-92916800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr5:92914600-92916800	Flanking Bivalent TSS/Enh	Placenta	Placenta
32	chr5:92914600-92917200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr5:92914600-92917400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
34	chr5:92914600-92919800	Active TSS	NHDF-Ad	bronchial
35	chr5:92914600-92924600	Active TSS	HSMM	muscle
36	chr5:92914600-92924800	Active TSS	Right Atrium	heart
37	chr5:92914800-92915600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
38	chr5:92914800-92915600	Enhancers	Liver	Liver
39	chr5:92914800-92915600	Active TSS	Hela-S3	cervix
40	chr5:92914800-92915800	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr5:92914800-92916000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:92914800-92916000	Active TSS	Fetal Lung	lung
43	chr5:92914800-92916200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:92914800-92916400	Flanking Active TSS	HMEC	breast
45	chr5:92914800-92916800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:92914800-92916800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:92914800-92917400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:92914800-92918000	Active TSS	A549	lung
49	chr5:92914800-92918800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:92914800-92920800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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