Variant report

Variant	rs12115132
Chromosome Location	chr8:52810130-52810131
allele	C/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	MXI1	chr8:52809990-52811142	GM12878	blood:	n/a	n/a
2	RFX5	chr8:52809839-52811196	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr8:52809769-52815334	GM12891	blood:	n/a	n/a
4	BRCA1	chr8:52809731-52811193	Hela-S3	cervix:	n/a	n/a
5	MYC	chr8:52809700-52811032	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr8:52808975-52813855	MCF10A-Er-Src	breast:	n/a	n/a
7	TBP	chr8:52809643-52811188	Hela-S3	cervix:	n/a	n/a
8	STAT3	chr8:52809746-52810391	MCF10A-Er-Src	breast:	n/a	n/a
9	ZNF384	chr8:52809807-52810663	K562	blood:	n/a	n/a
10	CEBPB	chr8:52809826-52810355	A549	lung:	n/a	chr8:52810155-52810168
11	POLR2A	chr8:52810114-52810641	GM12878	blood:	n/a	n/a
12	MYC	chr8:52809623-52811162	MCF10A-Er-Src	breast:	n/a	n/a
13	MXI1	chr8:52809530-52813810	SK-N-SH	brain:	n/a	n/a
14	MAX	chr8:52810115-52811134	Hela-S3	cervix:	n/a	n/a
15	TBP	chr8:52809712-52811162	K562	blood:	n/a	n/a
16	POLR2A	chr8:52809706-52813401	GM12878	blood:	n/a	n/a
17	GATA1	chr8:52809469-52810973	PBDE	blood:	n/a	n/a
18	CEBPB	chr8:52809770-52810861	K562	blood:	n/a	chr8:52810819-52810830 chr8:52810155-52810168 chr8:52810819-52810830
19	POLR2A	chr8:52810088-52812433	IMR90	lung:	n/a	n/a
20	CHD1	chr8:52810051-52811169	H1-hESC	embryonic stem cell:	n/a	n/a
21	REST	chr8:52809908-52812588	H1-neurons	neurons:	n/a	chr8:52812204-52812217 chr8:52811697-52811707
22	POLR2A	chr8:52809542-52813371	MCF10A-Er-Src	breast:	n/a	n/a
23	CEBPB	chr8:52809687-52811166	Hela-S3	cervix:	n/a	chr8:52810819-52810830 chr8:52810155-52810168 chr8:52810819-52810830
24	MAFK	chr8:52809863-52810387	Hela-S3	cervix:	n/a	n/a
25	IRF1	chr8:52809679-52811127	K562	blood:	n/a	chr8:52810073-52810083 chr8:52811029-52811042 chr8:52810781-52810794 chr8:52811030-52811042
26	EBF1	chr8:52809952-52810256	GM12878	blood:	n/a	n/a
27	CEBPB	chr8:52809704-52810774	IMR90	lung:	n/a	chr8:52810155-52810168
28	FOS	chr8:52809649-52810583	MCF10A-Er-Src	breast:	n/a	chr8:52809840-52809852
29	POLR2A	chr8:52808962-52813736	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52807403..52809441-chr8:52809988..52811800,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228801	TF binding region
ENSG00000253475	TF binding region
ENSG00000253475	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10086504	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10092494	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10097328	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10102568	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504127	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10504132	0.98[ASN][1000 genomes]
rs13281179	0.92[ASN][1000 genomes]
rs16916800	0.80[ASN][1000 genomes]
rs16916878	0.89[ASN][1000 genomes]
rs16916903	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16916974	0.85[ASN][1000 genomes]
rs16916979	0.83[ASN][1000 genomes]
rs16919843	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2020431	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28635761	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28652885	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28754887	0.80[ASN][1000 genomes]
rs4873602	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4873609	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56128832	0.87[EUR][1000 genomes]
rs56394995	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58408501	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58591247	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59344101	0.84[AMR][1000 genomes]
rs61196861	0.91[ASN][1000 genomes]
rs7008721	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7010217	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7011046	0.98[ASN][1000 genomes]
rs73590413	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73592226	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7815751	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7843530	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831316	chr8:52660353-52842928	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52771800-52810800	Weak transcription	Esophagus	oesophagus
2	chr8:52797400-52810800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:52798000-52810800	Weak transcription	Spleen	Spleen
4	chr8:52801600-52810200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:52801800-52810800	Weak transcription	Gastric	stomach
6	chr8:52803400-52810200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:52804200-52810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:52804200-52810400	Weak transcription	Lung	lung
9	chr8:52806400-52810200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:52807200-52810400	Weak transcription	Placenta	Placenta
11	chr8:52807600-52810400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:52807800-52810200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr8:52808200-52810200	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr8:52808600-52810200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:52808800-52810200	Weak transcription	Pancreas	Pancrea
16	chr8:52808800-52812800	Active TSS	Fetal Brain Female	brain
17	chr8:52809000-52810200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:52809000-52810400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr8:52809000-52810400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr8:52809000-52810600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr8:52809000-52810600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:52809000-52813000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:52809000-52813200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:52809000-52813400	Active TSS	Ovary	ovary
25	chr8:52809000-52814000	Active TSS	GM12878-XiMat	blood
26	chr8:52809200-52810200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:52809200-52810400	Flanking Active TSS	Dnd41	blood
28	chr8:52809200-52810600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:52809200-52811000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:52809200-52812800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:52809200-52812800	Active TSS	K562	blood
32	chr8:52809200-52813000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr8:52809200-52813000	Active TSS	Stomach Smooth Muscle	stomach
34	chr8:52809200-52814000	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr8:52809400-52810200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:52809400-52810600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr8:52809400-52810800	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr8:52809400-52811000	Active TSS	Fetal Brain Male	brain
39	chr8:52809400-52812800	Active TSS	NHLF	lung
40	chr8:52809400-52813000	Active TSS	Fetal Muscle Leg	muscle
41	chr8:52809400-52813000	Active TSS	Fetal Stomach	stomach
42	chr8:52809600-52810200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr8:52809600-52810200	Enhancers	Primary B cells from peripheral blood	blood
44	chr8:52809600-52810200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr8:52809600-52810200	Flanking Active TSS	Osteobl	bone
46	chr8:52809600-52810600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr8:52809600-52810600	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr8:52809600-52810600	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr8:52809600-52810600	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr8:52809600-52810600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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