Variant report

Variant	rs534133010
Chromosome Location	chr8:52810538-52810539
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	POLR2A	chr8:52810421-52812431	HUVEC	blood vessel:	n/a	n/a
3	HCFC1	chr8:52810364-52812568	Hela-S3	cervix:	n/a	n/a
4	MYC	chr8:52810181-52812787	Hela-S3	cervix:	n/a	chr8:52811172-52811182
5	POLR2A	chr8:52810298-52812957	GM18951	blood:	n/a	n/a
6	POLR2A	chr8:52810135-52810748	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr8:52810460-52813304	GM18505	blood:	n/a	n/a
8	POLR2A	chr8:52810151-52812914	Hela-S3	cervix:	n/a	n/a
9	RFX5	chr8:52809839-52811196	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr8:52810459-52810679	K562	blood:	n/a	n/a
11	TAF1	chr8:52810443-52810668	Hela-S3	cervix:	n/a	n/a
12	PML	chr8:52810212-52813305	GM12878	blood:	n/a	n/a
13	EBF1	chr8:52810462-52811161	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:52810458-52810546	Hela-S3	cervix:	n/a	n/a
15	TAF1	chr8:52810429-52810672	SK-N-SH	brain:	n/a	n/a
16	CHD2	chr8:52810215-52812751	Hela-S3	cervix:	n/a	n/a
17	MAZ	chr8:52810404-52812377	K562	blood:	n/a	chr8:52811172-52811182
18	MTA3	chr8:52810360-52813108	GM12878	blood:	n/a	n/a
19	GTF2F1	chr8:52810470-52811171	Hela-S3	cervix:	n/a	n/a
20	UBTF	chr8:52810275-52812377	K562	blood:	n/a	n/a
21	POLR2A	chr8:52809769-52815334	GM12891	blood:	n/a	n/a
22	YY1	chr8:52810439-52810685	K562	blood:	n/a	n/a
23	POLR2A	chr8:52810457-52813236	Raji	blood:	n/a	n/a
24	TBL1XR1	chr8:52810401-52811154	GM12878	blood:	n/a	n/a
25	BRCA1	chr8:52809731-52811193	Hela-S3	cervix:	n/a	n/a
26	TAF1	chr8:52810384-52810681	H1-neurons	neurons:	n/a	n/a
27	BHLHE40	chr8:52810304-52811181	GM12878	blood:	n/a	n/a
28	BATF	chr8:52810439-52810652	GM12878	blood:	n/a	n/a
29	TAF1	chr8:52810463-52810688	Hela-S3	cervix:	n/a	n/a
30	MXI1	chr8:52810368-52812506	IMR90	lung:	n/a	n/a
31	MYC	chr8:52810301-52813052	NB4	blood:	n/a	chr8:52811172-52811182
32	MYC	chr8:52809700-52811032	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr8:52810473-52812570	A549	lung:	n/a	chr8:52811172-52811182
34	POLR2A	chr8:52810370-52812788	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr8:52808975-52813855	MCF10A-Er-Src	breast:	n/a	n/a
36	HEY1	chr8:52810386-52810670	K562	blood:	n/a	n/a
37	SIN3A	chr8:52810373-52811143	H1-hESC	embryonic stem cell:	n/a	n/a
38	TBP	chr8:52809643-52811188	Hela-S3	cervix:	n/a	n/a
39	WRNIP1	chr8:52810469-52811091	GM12878	blood:	n/a	n/a
40	ZNF384	chr8:52809807-52810663	K562	blood:	n/a	n/a
41	SPI1	chr8:52810442-52810665	GM12891	blood:	n/a	n/a
42	RUNX3	chr8:52810421-52811198	GM12878	blood:	n/a	n/a
43	POLR2A	chr8:52810114-52810641	GM12878	blood:	n/a	n/a
44	POLR2A	chr8:52810437-52810663	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr8:52810457-52810671	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr8:52810468-52810631	Hela-S3	cervix:	n/a	n/a
47	MYC	chr8:52809623-52811162	MCF10A-Er-Src	breast:	n/a	n/a
48	MXI1	chr8:52809530-52813810	SK-N-SH	brain:	n/a	n/a
49	MAZ	chr8:52810519-52812397	Hela-S3	cervix:	n/a	chr8:52811172-52811182
50	SIN3A	chr8:52810426-52812357	GM12878	blood:	n/a	chr8:52811495-52811508 chr8:52812214-52812223 chr8:52811696-52811709

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
ENSG00000253475	TF binding region
ENSG00000228801	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:127 , 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	chr8:52808800-52812800	Active TSS	Fetal Brain Female	brain
6	chr8:52809000-52810600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr8:52809000-52810600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:52809000-52813000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:52809000-52813200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:52809000-52813400	Active TSS	Ovary	ovary
11	chr8:52809000-52814000	Active TSS	GM12878-XiMat	blood
12	chr8:52809200-52810600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:52809200-52811000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:52809200-52812800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:52809200-52812800	Active TSS	K562	blood
16	chr8:52809200-52813000	Active TSS	H1 Cell Line	embryonic stem cell
17	chr8:52809200-52813000	Active TSS	Stomach Smooth Muscle	stomach
18	chr8:52809200-52814000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr8:52809400-52810600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr8:52809400-52810800	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr8:52809400-52811000	Active TSS	Fetal Brain Male	brain
22	chr8:52809400-52812800	Active TSS	NHLF	lung
23	chr8:52809400-52813000	Active TSS	Fetal Muscle Leg	muscle
24	chr8:52809400-52813000	Active TSS	Fetal Stomach	stomach
25	chr8:52809600-52810600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr8:52809600-52810600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr8:52809600-52810600	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr8:52809600-52810600	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr8:52809600-52810600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
30	chr8:52809600-52810600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr8:52809600-52810800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr8:52809600-52812600	Active TSS	Fetal Thymus	thymus
33	chr8:52809600-52812800	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr8:52809600-52813000	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr8:52809600-52813000	Active TSS	Fetal Intestine Large	intestine
36	chr8:52809600-52813000	Active TSS	Right Ventricle	heart
37	chr8:52809600-52813000	Active TSS	NHDF-Ad	bronchial
38	chr8:52809600-52813200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:52809600-52813200	Active TSS	Right Atrium	heart
40	chr8:52809600-52813400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:52809600-52813400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:52809600-52813400	Active TSS	HSMM	muscle
43	chr8:52809600-52813600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:52809600-52813600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:52809800-52810600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr8:52809800-52810600	Flanking Active TSS	Liver	Liver
47	chr8:52809800-52810800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr8:52809800-52811000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr8:52809800-52811000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:52809800-52811400	Active TSS	Aorta	Aorta

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