Variant report

Variant	rs7112924
Chromosome Location	chr11:73106408-73106409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73102189..73103729-chr11:73105258..73107363,2	K562	blood:
2	chr11:73104835..73106451-chr11:73106455..73108482,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256928	Chromatin interaction
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1002127	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235770	0.88[EUR][1000 genomes]
rs11544310	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11544311	0.87[EUR][1000 genomes]
rs11823913	0.90[EUR][1000 genomes]
rs11828904	0.90[EUR][1000 genomes]
rs12099129	1.00[ASN][1000 genomes]
rs12288753	0.95[EUR][1000 genomes]
rs12290623	0.93[EUR][1000 genomes]
rs17244596	0.81[EUR][1000 genomes]
rs17851510	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1938777	0.90[EUR][1000 genomes]
rs2298469	0.95[EUR][1000 genomes]
rs28400367	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57354084	0.81[EUR][1000 genomes]
rs58334887	0.84[EUR][1000 genomes]
rs60078907	0.83[EUR][1000 genomes]
rs60924672	1.00[ASN][1000 genomes]
rs61345051	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110369	0.81[EUR][1000 genomes]
rs7114009	0.93[EUR][1000 genomes]
rs7118982	0.97[EUR][1000 genomes]
rs7125598	0.87[EUR][1000 genomes]
rs7129990	0.93[EUR][1000 genomes]
rs73542929	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542938	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542952	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542960	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542967	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542976	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542979	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73542990	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543000	0.80[EUR][1000 genomes]
rs73544710	0.81[EUR][1000 genomes]
rs73544711	0.84[EUR][1000 genomes]
rs73544716	0.84[EUR][1000 genomes]
rs73544720	0.84[EUR][1000 genomes]
rs73544729	0.81[EUR][1000 genomes]
rs7925226	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930454	0.83[EUR][1000 genomes]
rs7941359	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	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
rs7112924	FAM168A	cis	Whole Blood	GTEx
rs7112924	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73095200-73116200	Weak transcription	Liver	Liver
2	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:73097200-73117600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:73097400-73113000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:73097600-73106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:73097600-73110200	Weak transcription	NHDF-Ad	bronchial
7	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:73098800-73113000	Weak transcription	Fetal Brain Female	brain
10	chr11:73099200-73106600	Strong transcription	Fetal Intestine Small	intestine
11	chr11:73099200-73112400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:73099400-73109600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:73099400-73112400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:73099400-73113200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:73099600-73119200	Weak transcription	Fetal Lung	lung
18	chr11:73100000-73116600	Weak transcription	Pancreas	Pancrea
19	chr11:73100000-73118400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:73100200-73117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:73100400-73109600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr11:73100400-73109800	Weak transcription	Right Atrium	heart
23	chr11:73100600-73118600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr11:73100800-73109800	Weak transcription	HSMM	muscle
25	chr11:73100800-73115800	Weak transcription	HMEC	breast
26	chr11:73101000-73116200	Weak transcription	Brain Angular Gyrus	brain
27	chr11:73101000-73116400	Weak transcription	Brain Substantia Nigra	brain
28	chr11:73101200-73124800	Weak transcription	Psoas Muscle	Psoas
29	chr11:73101400-73110400	Strong transcription	GM12878-XiMat	blood
30	chr11:73101400-73112600	Weak transcription	HSMMtube	muscle
31	chr11:73101600-73107200	Strong transcription	Brain Cingulate Gyrus	brain
32	chr11:73101800-73110000	Strong transcription	Thymus	Thymus
33	chr11:73101800-73110200	Strong transcription	Dnd41	blood
34	chr11:73102200-73107000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:73103000-73106600	Strong transcription	NHLF	lung
36	chr11:73103000-73106800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:73103200-73108800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:73103600-73109400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:73103600-73118400	Weak transcription	Esophagus	oesophagus
40	chr11:73103800-73109400	Strong transcription	Fetal Thymus	thymus
41	chr11:73103800-73116600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:73104000-73109400	Weak transcription	Right Ventricle	heart
43	chr11:73104000-73116200	Weak transcription	Brain Anterior Caudate	brain
44	chr11:73104400-73108200	Strong transcription	Hela-S3	cervix
45	chr11:73104400-73109800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:73104400-73111000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:73104600-73109200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:73104600-73109800	Strong transcription	Spleen	Spleen
49	chr11:73104600-73110000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:73104600-73110000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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