Variant report

Variant	rs8080190
Chromosome Location	chr17:19916593-19916594
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	MAFK	chr17:19916440-19916737	HepG2	liver:	n/a	chr17:19916573-19916588
2	IRF1	chr17:19916492-19916668	K562	blood:	n/a	n/a
3	MAFK	chr17:19916443-19916670	IMR90	lung:	n/a	chr17:19916573-19916588
4	MAFK	chr17:19916447-19916691	HepG2	liver:	n/a	chr17:19916573-19916588

No.	Distal block	Cell Line	Cell type
1	chr17:19910547..19915566-chr17:19915848..19919362,6	K562	blood:
2	chr17:19911578..19915566-chr17:19916147..19920228,5	K562	blood:
3	chr17:19915750..19917622-chr17:19925482..19928326,2	K562	blood:

Variant related genes	Relation type
SPECC1	TF binding region
ENSG00000261033	TF binding region
ENSG00000128487	Chromatin interaction
ENSG00000261033	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs11204422	1.00[JPT][hapmap]
rs11867585	0.90[JPT][hapmap]
rs11867646	0.81[ASN][1000 genomes]
rs11867652	0.81[ASN][1000 genomes]
rs11870381	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12451841	1.00[JPT][hapmap]
rs12942179	0.90[JPT][hapmap]
rs12947713	1.00[JPT][hapmap]
rs1638526	0.90[JPT][hapmap]
rs16960545	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs16960602	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17686798	1.00[JPT][hapmap]
rs17759959	1.00[JPT][hapmap]
rs2072337	0.90[JPT][hapmap]
rs28410781	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28424266	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28653561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28713561	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs28767032	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28830504	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28865331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3909257	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4141185	0.90[JPT][hapmap]
rs4570919	0.90[JPT][hapmap]
rs4924808	1.00[JPT][hapmap]
rs4925075	1.00[JPT][hapmap]
rs4925082	1.00[JPT][hapmap]
rs4925088	0.82[JPT][hapmap]
rs6587207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6587208	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6587212	0.90[ASN][1000 genomes]
rs7207459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7207702	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7208033	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7209653	0.90[JPT][hapmap]
rs7210076	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7210751	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7214107	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7215769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7215803	1.00[JPT][hapmap]
rs7217387	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7217862	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7217868	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7218251	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7218919	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7219153	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7219487	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7219688	0.81[ASN][1000 genomes]
rs7220490	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7221669	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7223323	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7224373	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7224419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7224567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7224713	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs7224875	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7225249	0.90[JPT][hapmap]
rs8065122	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8068015	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8068484	1.00[JPT][hapmap]
rs8068488	0.98[ASN][1000 genomes]
rs8071670	1.00[CEU][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8075343	1.00[JPT][hapmap]
rs8079093	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8079487	0.90[ASN][1000 genomes]
rs8082671	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs888424	1.00[JPT][hapmap]
rs9889938	0.87[AFR][1000 genomes]
rs9890105	1.00[AMR][1000 genomes]
rs9891008	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9892175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9892271	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9893185	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9893296	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9894666	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9895556	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9896010	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9896387	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9896499	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9896633	0.98[ASN][1000 genomes]
rs9896641	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9897430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9897607	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9897653	0.90[JPT][hapmap]
rs9898618	0.95[ASN][1000 genomes]
rs9900393	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9900441	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9900510	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9901294	0.90[JPT][hapmap]
rs9901862	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9902663	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9903631	0.98[ASN][1000 genomes]
rs9904059	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9908415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9909011	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9909012	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9909242	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9909544	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9911408	0.98[ASN][1000 genomes]
rs9911872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9912184	1.00[AMR][1000 genomes]
rs9912648	0.98[ASN][1000 genomes]
rs9912657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9913858	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9914328	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9914429	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9915039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9915413	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9944451	0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv833394	chr17:19827714-19999577	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv907870	chr17:19871922-20001612	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv3382860	chr17:19894909-19918588	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19913800-19919400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:19913800-19921200	Weak transcription	Aorta	Aorta
3	chr17:19914200-19925000	Weak transcription	Adipose Nuclei	Adipose
4	chr17:19914600-19918000	Weak transcription	Ovary	ovary
5	chr17:19914600-19920000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr17:19914600-19920400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:19914600-19920600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr17:19914600-19920800	Weak transcription	Brain Anterior Caudate	brain
9	chr17:19914600-19922000	Weak transcription	Brain Angular Gyrus	brain
10	chr17:19914600-19928000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr17:19914600-19938400	Weak transcription	Brain Hippocampus Middle	brain
12	chr17:19916200-19916600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:19916200-19917200	Weak transcription	K562	blood

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