Variant report

Variant	rs12290785
Chromosome Location	chr11:73259012-73259013
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10501411	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235809	0.80[EUR][1000 genomes]
rs11820577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274057	0.89[AFR][1000 genomes]
rs12285885	0.80[EUR][1000 genomes]
rs12290701	0.82[EUR][1000 genomes]
rs17132115	0.82[EUR][1000 genomes]
rs17244596	1.00[ASN][1000 genomes]
rs17244602	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244616	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17310374	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742470	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56857598	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56884659	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57491850	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57673166	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58334887	1.00[ASN][1000 genomes]
rs58564192	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58573166	0.82[EUR][1000 genomes]
rs59806295	0.80[EUR][1000 genomes]
rs60860405	0.82[EUR][1000 genomes]
rs61516411	0.80[EUR][1000 genomes]
rs6592526	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7101561	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110369	1.00[ASN][1000 genomes]
rs7115055	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123985	0.82[EUR][1000 genomes]
rs7129546	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724111	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73543000	1.00[ASN][1000 genomes]
rs73544710	1.00[ASN][1000 genomes]
rs73544711	1.00[ASN][1000 genomes]
rs73544716	1.00[ASN][1000 genomes]
rs73544720	1.00[ASN][1000 genomes]
rs73544729	1.00[ASN][1000 genomes]
rs73544767	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73544783	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546720	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73546735	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548680	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548688	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548693	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73550316	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930152	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931767	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933355	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945825	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950375	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7951072	0.97[EUR][1000 genomes];1.00[ASN][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	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
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1048171	chr11:73210060-73271831	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12290785	ARHGEF17	cis	Whole Blood	GTEx

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73243400-73279600	Weak transcription	Fetal Stomach	stomach
2	chr11:73243800-73263000	Weak transcription	Fetal Intestine Small	intestine
3	chr11:73249600-73266000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:73249600-73266400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:73249600-73276000	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:73249800-73262600	Weak transcription	Brain Anterior Caudate	brain
7	chr11:73250000-73261800	Weak transcription	Brain Substantia Nigra	brain
8	chr11:73250000-73262200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:73250000-73262600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:73250000-73262600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:73250000-73262800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:73250000-73265800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:73250000-73307800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:73250200-73266400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:73250200-73278800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:73250800-73262200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:73250800-73265800	Weak transcription	Right Atrium	heart
18	chr11:73250800-73282800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:73251000-73265600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:73251000-73288800	Weak transcription	Thymus	Thymus
21	chr11:73251200-73263000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:73251600-73262200	Weak transcription	Right Ventricle	heart
23	chr11:73251600-73262400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:73251600-73266000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:73252000-73261200	Weak transcription	Dnd41	blood
26	chr11:73253600-73265800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:73253800-73262000	Weak transcription	Brain Angular Gyrus	brain
28	chr11:73253800-73307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:73254000-73262200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:73255600-73259400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:73256200-73260000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:73257600-73266000	Weak transcription	Left Ventricle	heart
33	chr11:73258000-73260000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr11:73258200-73259800	Enhancers	GM12878-XiMat	blood
35	chr11:73258600-73266000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:73258800-73259200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr11:73258800-73278000	Weak transcription	Primary B cells from cord blood	blood

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