Variant report

Variant	rs2277709
Chromosome Location	chr18:9474905-9474906
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	NRF1	chr18:9474843-9475788	GM12878	blood:	n/a	chr18:9475490-9475504 chr18:9475295-9475304 chr18:9475212-9475223 chr18:9475213-9475224 chr18:9475213-9475222 chr18:9475492-9475501 chr18:9475490-9475501 chr18:9475210-9475224 chr18:9475487-9475501
2	POLR2A	chr18:9474863-9476076	HepG2	liver:	n/a	n/a
3	TEAD4	chr18:9474446-9475881	K562	blood:	n/a	n/a
4	POLR2A	chr18:9474722-9476003	H1-neurons	neurons:	n/a	n/a
5	TEAD4	chr18:9474476-9475882	ECC-1	luminal epithelium:	n/a	n/a
6	RELA	chr18:9474789-9475903	GM18951	blood:	n/a	n/a
7	ELK1	chr18:9474802-9475891	Hela-S3	cervix:	n/a	n/a
8	HEY1	chr18:9474879-9476043	HepG2	liver:	n/a	chr18:9475763-9475778 chr18:9474965-9474980
9	TAF1	chr18:9474790-9475698	SK-N-SH	brain:	n/a	n/a
10	MAX	chr18:9474467-9476144	ECC-1	luminal epithelium:	n/a	n/a
11	TEAD4	chr18:9474700-9475279	K562	blood:	n/a	n/a
12	MXI1	chr18:9474420-9476815	IMR90	lung:	n/a	n/a
13	IRF1	chr18:9474786-9475976	K562	blood:	n/a	chr18:9475839-9475853
14	POLR2A	chr18:9474715-9475363	A549	lung:	n/a	n/a
15	POLR2A	chr18:9474622-9475751	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr18:9474404-9476654	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr18:9474405-9476216	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr18:9474900-9475050	WERI-Rb-1	eye:	n/a	chr18:9474976-9474989
19	TAF1	chr18:9474703-9475938	Hela-S3	cervix:	n/a	n/a
20	MAX	chr18:9474552-9476055	ECC-1	luminal epithelium:	n/a	n/a
21	CTCF	chr18:9474840-9474990	HUVEC	blood vessel:	n/a	chr18:9474976-9474989
22	CTCF	chr18:9474880-9475030	HMEC	breast:	n/a	chr18:9474976-9474989
23	MAZ	chr18:9474828-9475907	HepG2	liver:	n/a	n/a
24	CTCF	chr18:9474860-9475010	HRPEpiC	eye:	n/a	chr18:9474976-9474989
25	CHD2	chr18:9474318-9476133	GM12878	blood:	n/a	chr18:9475475-9475485
26	POLR2A	chr18:9474554-9475867	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr18:9474211-9476167	K562	blood:	n/a	n/a
28	E2F6	chr18:9474504-9476041	H1-hESC	embryonic stem cell:	n/a	chr18:9474970-9474980 chr18:9474832-9474841 chr18:9475753-9475764 chr18:9475759-9475768 chr18:9475295-9475304 chr18:9475214-9475223 chr18:9475754-9475766 chr18:9475491-9475500 chr18:9476023-9476033
29	NFYB	chr18:9474891-9475525	K562	blood:	n/a	n/a
30	CTCF	chr18:9474860-9475010	GM12875	blood:	n/a	chr18:9474976-9474989
31	NFIC	chr18:9474771-9475494	ECC-1	luminal epithelium:	n/a	n/a
32	EP300	chr18:9474507-9475898	ECC-1	luminal epithelium:	n/a	chr18:9475759-9475768
33	CTCF	chr18:9474901-9475136	GM10266	blood:	n/a	chr18:9474976-9474989
34	RFX5	chr18:9474749-9475829	Hela-S3	cervix:	n/a	chr18:9474820-9474828
35	TAL1	chr18:9474718-9475727	K562	blood:	n/a	n/a
36	POLR2A	chr18:9474840-9476035	GM12891	blood:	n/a	n/a
37	POLR2A	chr18:9474526-9476143	HepG2	liver:	n/a	n/a
38	CTCF	chr18:9474880-9475030	HA-sp	spinal cord:	n/a	chr18:9474976-9474989
39	MAX	chr18:9474858-9476100	GM12878	blood:	n/a	n/a
40	CTCF	chr18:9474877-9475051	SK-N-SH_RA	brain:	n/a	chr18:9474976-9474989
41	POLR2A	chr18:9474710-9475997	A549	lung:	n/a	n/a
42	POLR2A	chr18:9474705-9476452	GM12878	blood:	n/a	n/a
43	MAX	chr18:9474737-9476038	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr18:9474696-9475377	SK-N-SH_RA	brain:	n/a	n/a
45	STAT3	chr18:9474805-9475022	MCF10A-Er-Src	breast:	n/a	n/a
46	ZBTB7A	chr18:9474673-9476226	K562	blood:	n/a	chr18:9475294-9475303
47	BRCA1	chr18:9474894-9475539	GM12878	blood:	n/a	n/a
48	MYC	chr18:9474755-9476487	K562	blood:	n/a	n/a
49	MAX	chr18:9474902-9476526	K562	blood:	n/a	n/a
50	HEY1	chr18:9474500-9476094	K562	blood:	n/a	chr18:9475763-9475778 chr18:9474965-9474980

No.	Distal block	Cell Line	Cell type
1	chr18:9333428..9336571-chr18:9474335..9476989,6	MCF-7	breast:
2	chr18:9474439..9475367-chr5:180672929..180673983,3	Hela-S3	cervix:
3	chr1:149857548..149858376-chr18:9474738..9475411,2	Hela-S3	cervix:
4	chr18:9474867..9475442-chr5:40834265..40834948,2	Hela-S3	cervix:
5	chr1:104067956..104068800-chr18:9474823..9475445,2	Hela-S3	cervix:
6	chr18:9331992..9337338-chr18:9472584..9477624,6	MCF-7	breast:
7	chr18:9334546..9336965-chr18:9474025..9476757,3	K562	blood:
8	chr18:9474779..9475635-chr4:77069246..77070192,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000273335	TF binding region
RALBP1	TF binding region
ENSG00000145592	Chromatin interaction
ENSG00000138750	Chromatin interaction
ENSG00000233937	Chromatin interaction
ENSG00000224613	Chromatin interaction
ENSG00000264964	Chromatin interaction
ENSG00000185946	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000128791	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1869737	1.00[JPT][hapmap]
rs2840354	0.92[CHD][hapmap];1.00[JPT][hapmap]
rs3786174	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59114729	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59992205	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61166388	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62086114	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62086115	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62086118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62086119	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62086120	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62086121	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62086146	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62086147	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62086151	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62086152	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62086155	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62086156	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62086158	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62086159	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087363	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087368	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087370	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087371	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087372	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62087378	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087402	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087403	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087404	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087406	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087407	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087411	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087412	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087414	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087415	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087416	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62087417	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6506674	0.92[CHD][hapmap]
rs6506677	0.85[JPT][hapmap]
rs7231531	1.00[JPT][hapmap]
rs7233308	1.00[JPT][hapmap]
rs7237018	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7238137	1.00[JPT][hapmap]
rs7239083	1.00[JPT][hapmap]
rs72636719	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73393877	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73393880	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73395717	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73395719	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs894757	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9474000-9475000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr18:9474000-9476400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr18:9474000-9476400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr18:9474000-9477000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr18:9474000-9477000	Active TSS	Right Ventricle	heart
6	chr18:9474200-9475000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:9474200-9475000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:9474200-9475000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr18:9474200-9475000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:9474200-9475000	Flanking Active TSS	Liver	Liver
11	chr18:9474200-9475000	Flanking Active TSS	Dnd41	blood
12	chr18:9474200-9476400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr18:9474200-9476400	Active TSS	Brain Anterior Caudate	brain
14	chr18:9474200-9476600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:9474200-9476600	Active TSS	Rectal Smooth Muscle	rectum
16	chr18:9474200-9476800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr18:9474200-9476800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr18:9474400-9475000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr18:9474400-9475000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr18:9474400-9475000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr18:9474400-9475000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr18:9474400-9475000	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr18:9474400-9475000	Flanking Active TSS	Placenta	Placenta
24	chr18:9474400-9475000	Flanking Active TSS	Fetal Thymus	thymus
25	chr18:9474400-9475000	Flanking Active TSS	GM12878-XiMat	blood
26	chr18:9474400-9475000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr18:9474400-9475200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr18:9474400-9476400	Active TSS	Brain Substantia Nigra	brain
29	chr18:9474400-9476400	Active TSS	Left Ventricle	heart
30	chr18:9474400-9476400	Bivalent/Poised TSS	HepG2	liver
31	chr18:9474400-9476600	Active TSS	Aorta	Aorta
32	chr18:9474400-9476800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr18:9474400-9476800	Active TSS	Colonic Mucosa	Colon
34	chr18:9474400-9476800	Active TSS	Ovary	ovary
35	chr18:9474400-9477000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr18:9474600-9475000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr18:9474600-9475000	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr18:9474600-9475000	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr18:9474600-9475000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr18:9474600-9475000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr18:9474600-9475000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr18:9474600-9475000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr18:9474600-9475000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr18:9474600-9475200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:9474600-9475400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr18:9474600-9475600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:9474600-9475800	Active TSS	Primary hematopoietic stem cells	blood
48	chr18:9474600-9475800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr18:9474600-9475800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr18:9474600-9475800	Transcr. at gene 5' and 3'	Right Atrium	heart

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