Variant report

Variant	rs560202892
Chromosome Location	chr8:52810270-52810271
allele	G/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	MXI1	chr8:52809990-52811142	GM12878	blood:	n/a	n/a
2	MYC	chr8:52810181-52812787	Hela-S3	cervix:	n/a	chr8:52811172-52811182
3	POLR2A	chr8:52810135-52810748	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr8:52810151-52812914	Hela-S3	cervix:	n/a	n/a
5	RFX5	chr8:52809839-52811196	Hela-S3	cervix:	n/a	n/a
6	PML	chr8:52810212-52813305	GM12878	blood:	n/a	n/a
7	CHD2	chr8:52810215-52812751	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr8:52809769-52815334	GM12891	blood:	n/a	n/a
9	BRCA1	chr8:52809731-52811193	Hela-S3	cervix:	n/a	n/a
10	MYC	chr8:52809700-52811032	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr8:52808975-52813855	MCF10A-Er-Src	breast:	n/a	n/a
12	TBP	chr8:52809643-52811188	Hela-S3	cervix:	n/a	n/a
13	STAT3	chr8:52809746-52810391	MCF10A-Er-Src	breast:	n/a	n/a
14	ZNF384	chr8:52809807-52810663	K562	blood:	n/a	n/a
15	CEBPB	chr8:52809826-52810355	A549	lung:	n/a	chr8:52810155-52810168
16	POLR2A	chr8:52810114-52810641	GM12878	blood:	n/a	n/a
17	MYC	chr8:52809623-52811162	MCF10A-Er-Src	breast:	n/a	n/a
18	MXI1	chr8:52809530-52813810	SK-N-SH	brain:	n/a	n/a
19	MAX	chr8:52810115-52811134	Hela-S3	cervix:	n/a	n/a
20	TBP	chr8:52809712-52811162	K562	blood:	n/a	n/a
21	POLR2A	chr8:52809706-52813401	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:52810174-52812745	K562	blood:	n/a	n/a
23	GATA1	chr8:52809469-52810973	PBDE	blood:	n/a	n/a
24	CEBPB	chr8:52809770-52810861	K562	blood:	n/a	chr8:52810819-52810830 chr8:52810155-52810168 chr8:52810819-52810830
25	POLR2A	chr8:52810088-52812433	IMR90	lung:	n/a	n/a
26	CCNT2	chr8:52810266-52810558	K562	blood:	n/a	n/a
27	CHD1	chr8:52810051-52811169	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr8:52810160-52813088	NB4	blood:	n/a	chr8:52811172-52811182
29	REST	chr8:52809908-52812588	H1-neurons	neurons:	n/a	chr8:52812204-52812217 chr8:52811697-52811707
30	POLR2A	chr8:52809542-52813371	MCF10A-Er-Src	breast:	n/a	n/a
31	MYC	chr8:52810238-52811145	K562	blood:	n/a	n/a
32	POLR2A	chr8:52810214-52813153	PBDE	blood:	n/a	n/a
33	CEBPB	chr8:52809687-52811166	Hela-S3	cervix:	n/a	chr8:52810819-52810830 chr8:52810155-52810168 chr8:52810819-52810830
34	MAFK	chr8:52809863-52810387	Hela-S3	cervix:	n/a	n/a
35	IRF1	chr8:52809679-52811127	K562	blood:	n/a	chr8:52810073-52810083 chr8:52811029-52811042 chr8:52810781-52810794 chr8:52811030-52811042
36	JUND	chr8:52810261-52811173	K562	blood:	n/a	n/a
37	CEBPB	chr8:52809704-52810774	IMR90	lung:	n/a	chr8:52810155-52810168
38	FOS	chr8:52809649-52810583	MCF10A-Er-Src	breast:	n/a	chr8:52809840-52809852
39	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: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3375906	chr8:52810224-52812772	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 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	chr8:52801800-52810800	Weak transcription	Gastric	stomach
5	chr8:52804200-52810400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:52804200-52810400	Weak transcription	Lung	lung
7	chr8:52807200-52810400	Weak transcription	Placenta	Placenta
8	chr8:52807600-52810400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:52808800-52812800	Active TSS	Fetal Brain Female	brain
10	chr8:52809000-52810400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr8:52809000-52810400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:52809000-52810600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr8:52809000-52810600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:52809000-52813000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:52809000-52813200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:52809000-52813400	Active TSS	Ovary	ovary
17	chr8:52809000-52814000	Active TSS	GM12878-XiMat	blood
18	chr8:52809200-52810400	Flanking Active TSS	Dnd41	blood
19	chr8:52809200-52810600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:52809200-52811000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:52809200-52812800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:52809200-52812800	Active TSS	K562	blood
23	chr8:52809200-52813000	Active TSS	H1 Cell Line	embryonic stem cell
24	chr8:52809200-52813000	Active TSS	Stomach Smooth Muscle	stomach
25	chr8:52809200-52814000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr8:52809400-52810600	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr8:52809400-52810800	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr8:52809400-52811000	Active TSS	Fetal Brain Male	brain
29	chr8:52809400-52812800	Active TSS	NHLF	lung
30	chr8:52809400-52813000	Active TSS	Fetal Muscle Leg	muscle
31	chr8:52809400-52813000	Active TSS	Fetal Stomach	stomach
32	chr8:52809600-52810600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr8:52809600-52810600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr8:52809600-52810600	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr8:52809600-52810600	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr8:52809600-52810600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr8:52809600-52810600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr8:52809600-52810800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr8:52809600-52812600	Active TSS	Fetal Thymus	thymus
40	chr8:52809600-52812800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr8:52809600-52813000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr8:52809600-52813000	Active TSS	Fetal Intestine Large	intestine
43	chr8:52809600-52813000	Active TSS	Right Ventricle	heart
44	chr8:52809600-52813000	Active TSS	NHDF-Ad	bronchial
45	chr8:52809600-52813200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:52809600-52813200	Active TSS	Right Atrium	heart
47	chr8:52809600-52813400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:52809600-52813400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:52809600-52813400	Active TSS	HSMM	muscle
50	chr8:52809600-52813600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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