Variant report

Variant	rs73198943
Chromosome Location	chr8:10997618-10997619
allele	C/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	chr8:10996474-10997773	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10987323..10988888-chr8:10996311..10998461,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254556	TF binding region
ENSG00000215346	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10095003	1.00[ASN][1000 genomes]
rs10100660	1.00[ASN][1000 genomes]
rs10101329	1.00[ASN][1000 genomes]
rs10110684	1.00[ASN][1000 genomes]
rs10503417	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775489	1.00[ASN][1000 genomes]
rs11776603	1.00[ASN][1000 genomes]
rs11777355	1.00[ASN][1000 genomes]
rs11777887	1.00[ASN][1000 genomes]
rs11777918	1.00[ASN][1000 genomes]
rs11783045	1.00[ASN][1000 genomes]
rs11783890	1.00[ASN][1000 genomes]
rs11785237	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989369	1.00[ASN][1000 genomes]
rs13248014	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13249916	1.00[ASN][1000 genomes]
rs13256743	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265553	1.00[ASN][1000 genomes]
rs13266785	1.00[ASN][1000 genomes]
rs13276708	1.00[ASN][1000 genomes]
rs17725480	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17725534	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17726209	1.00[ASN][1000 genomes]
rs17782536	1.00[ASN][1000 genomes]
rs17782554	1.00[ASN][1000 genomes]
rs1987190	1.00[ASN][1000 genomes]
rs2409719	1.00[ASN][1000 genomes]
rs2409720	1.00[ASN][1000 genomes]
rs2409725	1.00[ASN][1000 genomes]
rs2409726	1.00[ASN][1000 genomes]
rs2409729	1.00[ASN][1000 genomes]
rs3021495	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3021497	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3021498	1.00[ASN][1000 genomes]
rs3021501	1.00[ASN][1000 genomes]
rs34309263	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34367737	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35211404	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4291231	1.00[ASN][1000 genomes]
rs4412337	1.00[ASN][1000 genomes]
rs4451268	1.00[ASN][1000 genomes]
rs4642600	1.00[ASN][1000 genomes]
rs4840548	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4841497	1.00[ASN][1000 genomes]
rs4841499	1.00[ASN][1000 genomes]
rs67418928	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67559300	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71518512	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9329238	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025426	chr8:10942929-11037903	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1026331	chr8:10955941-11046394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv1019796	chr8:10979442-11010826	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10966200-10999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr8:10966400-11026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:10982800-11003400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:10983000-11002000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr8:10983000-11003200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr8:10983200-11001800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:10984400-11000000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:10986400-11002000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:10989600-11014200	Weak transcription	Pancreas	Pancrea
10	chr8:10991800-10998800	Weak transcription	Gastric	stomach
11	chr8:10991800-11011800	Weak transcription	Left Ventricle	heart
12	chr8:10992800-11002000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:10995600-10999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:10996800-10998000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:10997000-10998000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:10997000-11001000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:10997000-11002000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:10997200-10997800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:10997200-10998200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:10997200-10999000	Weak transcription	Esophagus	oesophagus
21	chr8:10997200-11021000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:10997400-10998600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:10997400-10998800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:10997400-10999000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:10997400-10999000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:10997400-10999000	Weak transcription	Spleen	Spleen
27	chr8:10997400-11001800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:10997400-11002000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:10997400-11003800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:10997400-11006000	Weak transcription	HSMMtube	muscle
31	chr8:10997400-11011200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:10997400-11017400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:10997600-10999000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:10997600-11002000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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