Variant report

Variant	rs11977673
Chromosome Location	chr7:98893935-98893936
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	POLR2A	chr7:98890111-98895513	K562	blood:	n/a	n/a
2	IRF1	chr7:98893898-98893938	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:98891789..98894054-chr7:98989538..98991720,2	K562	blood:

Variant related genes	Relation type
MYH16	TF binding region
ENSG00000130429	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10215854	1.00[CHD][hapmap]
rs10235235	1.00[CHD][hapmap]
rs10268984	1.00[CHD][hapmap];0.92[GIH][hapmap]
rs10808112	1.00[CHD][hapmap]
rs10953288	0.83[GIH][hapmap]
rs11771702	1.00[CHB][hapmap]
rs11973173	1.00[CHD][hapmap]
rs11974885	0.87[CEU][hapmap]
rs11978345	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11978582	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12112936	1.00[CHB][hapmap]
rs12113440	1.00[CHB][hapmap]
rs12531852	1.00[CHD][hapmap]
rs12535424	1.00[CHD][hapmap]
rs12538893	1.00[CHB][hapmap]
rs12539480	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13243267	1.00[CHD][hapmap]
rs17161662	1.00[CHB][hapmap]
rs17161669	1.00[CHB][hapmap]
rs17161687	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.86[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2395048	0.82[CEU][hapmap]
rs35296070	0.85[CEU][hapmap]
rs35656351	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56937678	0.80[EUR][1000 genomes]
rs66478766	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66568021	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67546174	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67909852	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67934834	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6955490	1.00[CHB][hapmap]
rs6957987	1.00[CHB][hapmap]
rs6960810	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs6964049	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73163167	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73163169	0.93[EUR][1000 genomes]
rs733991	1.00[CHB][hapmap]
rs740160	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11977673	ARPC1B	cis	Thyroid	GTEx
rs11977673	GS1-259H13.2	cis	Thyroid	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98865400-98899200	Weak transcription	Spleen	Spleen
2	chr7:98873200-98905800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:98874800-98906800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:98881200-98899000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:98890000-98894400	Weak transcription	Lung	lung
6	chr7:98890400-98894200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:98890800-98905800	Weak transcription	Pancreas	Pancrea
8	chr7:98893200-98906600	Weak transcription	Fetal Intestine Small	intestine
9	chr7:98893800-98906000	Weak transcription	HMEC	breast

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