Variant report

Variant	rs7010937
Chromosome Location	chr8:9121748-9121749
allele	A/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	MAFK	chr8:9121219-9122175	H1-hESC	embryonic stem cell:	n/a	n/a
2	SP1	chr8:9121633-9122285	H1-hESC	embryonic stem cell:	n/a	chr8:9121915-9121936
3	POU5F1	chr8:9121645-9122213	H1-hESC	embryonic stem cell:	n/a	chr8:9121942-9121956 chr8:9121942-9121956 chr8:9121942-9121956
4	EP300	chr8:9121650-9122280	H1-hESC	embryonic stem cell:	n/a	n/a
5	NANOG	chr8:9121654-9122192	H1-hESC	embryonic stem cell:	n/a	chr8:9121926-9121935
6	NANOG	chr8:9121724-9122189	H1-hESC	embryonic stem cell:	n/a	chr8:9121926-9121935
7	HDAC2	chr8:9121579-9122244	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr8:9121198-9122494	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr8:9121104-9122485	H1-hESC	embryonic stem cell:	n/a	chr8:9121720-9121732
10	ATF2	chr8:9121581-9122231	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP1	chr8:9121646-9122245	H1-hESC	embryonic stem cell:	n/a	chr8:9121915-9121936
12	EP300	chr8:9121655-9122203	H1-hESC	embryonic stem cell:	n/a	n/a
13	TBP	chr8:9121623-9122295	H1-hESC	embryonic stem cell:	n/a	n/a
14	POU5F1	chr8:9121720-9122208	H1-hESC	embryonic stem cell:	n/a	chr8:9121942-9121956 chr8:9121942-9121956 chr8:9121942-9121956
15	BRCA1	chr8:9121619-9122124	H1-hESC	embryonic stem cell:	n/a	n/a
16	TCF12	chr8:9121681-9122160	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr8:9121573-9122206	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9094088..9097084-chr8:9119791..9121846,2	K562	blood:
2	chr8:9121493..9123437-chr8:9133381..9135913,2	K562	blood:

Variant related genes	Relation type
ENSG00000253887	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs41408944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56982144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59451409	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60047741	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6651500	0.90[AMR][1000 genomes]
rs6995751	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002373	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7002390	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73520949	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73520950	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73663820	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822481	0.95[AMR][1000 genomes]
rs7832330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7834900	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9329183	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9694562	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv610206	chr8:8961017-9162048	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1018847	chr8:9017110-9216354	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1022967	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv539462	chr8:9023771-9261351	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1034464	chr8:9082008-9127516	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	nsv1018531	chr8:9093176-9135199	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv1023713	chr8:9100776-9123940	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9113200-9125000	Weak transcription	Fetal Lung	lung
2	chr8:9115000-9128800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:9118000-9123800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:9118400-9123200	Weak transcription	Right Atrium	heart
5	chr8:9119600-9123800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:9120800-9123600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:9121000-9122000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr8:9121000-9122200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:9121000-9123200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:9121000-9123200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:9121000-9123200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:9121000-9123600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:9121000-9124200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:9121200-9122200	Enhancers	Fetal Heart	heart
15	chr8:9121200-9124400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:9121400-9121800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr8:9121400-9122200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:9121400-9123800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:9121600-9121800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:9121600-9122000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr8:9121600-9122000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:9121600-9122800	Weak transcription	H9 Cell Line	embryonic stem cell

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