Variant report

Variant	rs11985451
Chromosome Location	chr8:104032954-104032955
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	RELA	chr8:104032659-104033576	GM18505	blood:	n/a	chr8:104033119-104033128 chr8:104033119-104033128
2	SIN3A	chr8:104032792-104034128	H1-hESC	embryonic stem cell:	n/a	chr8:104033570-104033579
3	POLR2A	chr8:104032844-104033705	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr8:104032768-104034143	HepG2	liver:	n/a	n/a
5	TAF1	chr8:104032889-104033459	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr8:104032915-104033831	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr8:104032539-104033851	PFSK-1	brain:	n/a	n/a
8	TAF1	chr8:104032828-104033515	SK-N-SH	brain:	n/a	n/a
9	ZEB1	chr8:104032952-104033462	GM12878	blood:	n/a	n/a
10	MYC	chr8:104032876-104033740	K562	blood:	n/a	chr8:104033299-104033308 chr8:104033302-104033310
11	MAZ	chr8:104032568-104033710	K562	blood:	n/a	chr8:104033299-104033308 chr8:104033302-104033310
12	POLR2A	chr8:104032833-104033788	HepG2	liver:	n/a	n/a
13	POLR2A	chr8:104032674-104033818	K562	blood:	n/a	n/a
14	MYBL2	chr8:104032896-104033514	HepG2	liver:	n/a	n/a
15	EGR1	chr8:104032943-104033746	K562	blood:	n/a	chr8:104033252-104033263 chr8:104033541-104033554 chr8:104033537-104033559 chr8:104033252-104033266 chr8:104033541-104033554 chr8:104033251-104033265
16	POLR2A	chr8:104032898-104033823	GM19193	blood:	n/a	n/a
17	POLR2A	chr8:104032845-104033634	Gliobla	brain:	n/a	n/a
18	UBTF	chr8:104032819-104033588	K562	blood:	n/a	n/a
19	PML	chr8:104032619-104033768	GM12878	blood:	n/a	n/a
20	MAZ	chr8:104032849-104033583	GM12878	blood:	n/a	chr8:104033299-104033308 chr8:104033302-104033310
21	NFIC	chr8:104032859-104033491	HepG2	liver:	n/a	n/a
22	NRF1	chr8:104032843-104033664	SK-N-SH	brain:	n/a	chr8:104033115-104033122 chr8:104033230-104033244 chr8:104033246-104033257 chr8:104033233-104033244
23	POLR2A	chr8:104032952-104033536	HepG2	liver:	n/a	n/a
24	PML	chr8:104032820-104033772	MCF-7	breast:	n/a	n/a
25	POLR2A	chr8:104032640-104033811	Raji	blood:	n/a	n/a
26	WRNIP1	chr8:104032344-104033732	GM12878	blood:	n/a	n/a
27	USF1	chr8:104032858-104033823	ECC-1	luminal epithelium:	n/a	chr8:104033224-104033240 chr8:104033218-104033234 chr8:104033297-104033310 chr8:104033299-104033308 chr8:104033298-104033309 chr8:104033298-104033307 chr8:104033299-104033308 chr8:104033226-104033242 chr8:104033300-104033309
28	MAX	chr8:104032851-104033774	HCT-116	colon:	n/a	chr8:104033299-104033308 chr8:104033302-104033310
29	POLR2A	chr8:104032343-104033650	MCF10A-Er-Src	breast:	n/a	n/a
30	REST	chr8:104032904-104033194	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr8:104032781-104033581	PANC-1	pancreas:	n/a	n/a
32	TBL1XR1	chr8:104032695-104033589	K562	blood:	n/a	n/a
33	TAF1	chr8:104032619-104033852	MCF-7	breast:	n/a	n/a
34	POLR2A	chr8:104032882-104033722	HL-60	blood:	n/a	n/a
35	RUNX3	chr8:104032612-104033819	GM12878	blood:	n/a	n/a
36	REST	chr8:104032854-104033697	HL-60	blood:	n/a	chr8:104033272-104033285 chr8:104033272-104033285
37	FOXM1	chr8:104032700-104033667	GM12878	blood:	n/a	n/a
38	POLR2A	chr8:104032702-104033732	GM19099	blood:	n/a	n/a
39	ZNF143	chr8:104032901-104033537	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr8:104032654-104033757	K562	blood:	n/a	n/a
41	SP4	chr8:104032789-104033732	H1-hESC	embryonic stem cell:	n/a	chr8:104033194-104033210 chr8:104033121-104033137
42	TAF1	chr8:104032934-104033511	H1-hESC	embryonic stem cell:	n/a	n/a
43	REST	chr8:104032873-104033574	PFSK-1	brain:	n/a	chr8:104033272-104033285 chr8:104033272-104033285
44	EGR1	chr8:104032711-104033944	HCT-116	colon:	n/a	chr8:104033252-104033263 chr8:104033541-104033554 chr8:104033537-104033559 chr8:104033252-104033266 chr8:104033541-104033554 chr8:104033858-104033868 chr8:104033251-104033265
45	TBP	chr8:104032635-104033531	GM12878	blood:	n/a	n/a
46	MTA3	chr8:104032598-104033703	GM12878	blood:	n/a	n/a
47	USF1	chr8:104032839-104033815	SK-N-SH	brain:	n/a	chr8:104033224-104033240 chr8:104033218-104033234 chr8:104033297-104033310 chr8:104033299-104033308 chr8:104033298-104033309 chr8:104033298-104033307 chr8:104033299-104033308 chr8:104033226-104033242 chr8:104033300-104033309
48	POLR2A	chr8:104032926-104033954	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:104032847-104033666	MCF-7	breast:	n/a	n/a
50	POLR2A	chr8:104032782-104033663	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103873561..103877987-chr8:104030387..104035295,15	K562	blood:
2	chr8:103875552..103877856-chr8:104031071..104034645,4	K562	blood:
3	chr8:103874643..103878099-chr8:104031324..104040310,20	MCF-7	breast:
4	chr8:104031977..104033590-chr8:104309490..104311650,2	MCF-7	breast:
5	chr8:104027811..104029796-chr8:104031590..104033402,2	MCF-7	breast:
6	chr8:103665043..103667902-chr8:104032502..104034925,2	K562	blood:
7	chr8:104026806..104029489-chr8:104031161..104033140,3	K562	blood:
8	chr8:103936608..103938218-chr8:104032062..104033919,2	MCF-7	breast:
9	chr8:103870045..103872985-chr8:104031865..104034556,2	MCF-7	breast:
10	chr8:104032827..104033350-chr9:135544775..135545641,2	HCT-116	colon:
11	chr8:104032543..104034903-chr8:104061737..104063983,2	MCF-7	breast:
12	chr8:103875337..103875971-chr8:104032293..104033157,2	K562	blood:
13	chr8:103873594..103879966-chr8:104029090..104036191,28	MCF-7	breast:
14	chr17:56708428..56709205-chr8:104032656..104033438,2	MCF-7	breast:
15	chr8:104032077..104034821-chr8:104426211..104427812,2	MCF-7	breast:
16	chr17:62222917..62224705-chr8:104031776..104034703,2	MCF-7	breast:

Variant related genes	Relation type
ATP6V1C1	TF binding region
ENSG00000155096	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000247081	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000125484	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000253663	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000125485	Chromatin interaction
ENSG00000164930	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000266402	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10092124	0.96[CEU][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10955300	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11775864	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11777066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779536	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1849339	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs1913025	0.96[CEU][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2048549	0.85[CEU][hapmap];0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs2253218	0.85[YRI][hapmap]
rs2388373	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2454045	0.87[YRI][hapmap]
rs2458290	0.86[YRI][hapmap]
rs2515174	0.85[CEU][hapmap];0.84[CHB][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2515197	0.90[YRI][hapmap]
rs2515198	0.84[YRI][hapmap]
rs2679733	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28693757	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2935582	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2935583	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2942225	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945830	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3018946	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3018947	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4373497	0.96[CEU][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4592000	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs492009	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs492108	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs494767	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs494941	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs498193	0.95[CEU][hapmap];0.95[GIH][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes]
rs514502	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs522300	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs543674	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs543736	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs548291	0.83[ASN][1000 genomes]
rs549251	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55743653	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55801214	0.82[ASN][1000 genomes]
rs56004705	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs563544	0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs565338	0.95[CEU][hapmap];0.93[GIH][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs571301	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs577704	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs579324	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs595227	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs596631	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs611839	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs612340	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs612363	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62525305	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525310	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs626234	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs626253	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs627111	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs640049	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs641814	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs641839	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs661012	0.81[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs693341	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7013362	0.86[JPT][hapmap];0.86[YRI][hapmap];0.83[ASN][1000 genomes]
rs7816814	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7834756	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7834916	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs868907	0.95[CEU][hapmap];0.88[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104032200-104033000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr8:104032200-104033800	Active TSS	Fetal Heart	heart
3	chr8:104032200-104034000	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr8:104032400-104033000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr8:104032400-104033000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr8:104032400-104033000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr8:104032400-104033000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr8:104032400-104033000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:104032400-104033000	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr8:104032400-104033000	Flanking Active TSS	Dnd41	blood
11	chr8:104032400-104033000	Flanking Active TSS	GM12878-XiMat	blood
12	chr8:104032400-104034000	Active TSS	Brain Hippocampus Middle	brain
13	chr8:104032400-104034000	Active TSS	Rectal Smooth Muscle	rectum
14	chr8:104032600-104033000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:104032600-104033000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:104032600-104033000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:104032600-104033000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr8:104032600-104033000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr8:104032600-104033000	Flanking Active TSS	Primary B cells from peripheral blood	blood
20	chr8:104032600-104033000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr8:104032600-104033000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr8:104032600-104033000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr8:104032600-104033000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr8:104032600-104033000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr8:104032600-104033000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:104032600-104033000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:104032600-104033000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr8:104032600-104033000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr8:104032600-104033000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr8:104032600-104033000	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr8:104032600-104033000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr8:104032600-104033000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr8:104032600-104033000	Flanking Active TSS	Placenta	Placenta
34	chr8:104032600-104033000	Flanking Active TSS	Fetal Stomach	stomach
35	chr8:104032600-104033000	Flanking Active TSS	Fetal Thymus	thymus
36	chr8:104032600-104033000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr8:104032600-104033000	Flanking Active TSS	Hela-S3	cervix
38	chr8:104032600-104033000	Flanking Active TSS	HMEC	breast
39	chr8:104032600-104033000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr8:104032600-104033000	Flanking Active TSS	NHEK	skin
41	chr8:104032600-104033000	Flanking Active TSS	Osteobl	bone
42	chr8:104032600-104033200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:104032600-104033200	Flanking Active TSS	Liver	Liver
44	chr8:104032600-104033400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:104032600-104033400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:104032600-104033600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr8:104032600-104033600	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr8:104032600-104033800	ZNF genes & repeats	Fetal Brain Male	brain
49	chr8:104032600-104034000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:104032600-104034000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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