Variant report

Variant	rs7107058
Chromosome Location	chr11:76168219-76168220
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	chr11:76152066..76158313-chr11:76167740..76173788,10	K562	blood:
2	chr11:76157054..76159059-chr11:76166172..76168326,2	K562	blood:

Variant related genes	Relation type
ENSG00000255135	Chromatin interaction
ENSG00000158636	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10160382	0.88[MEX][hapmap]
rs1044265	1.00[ASW][hapmap];0.85[LWK][hapmap];0.82[YRI][hapmap]
rs10793167	0.80[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10793169	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793171	0.93[ASW][hapmap];0.92[CEU][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10899217	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10899219	0.89[AFR][1000 genomes]
rs10899220	0.86[AFR][1000 genomes]
rs10899222	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10899225	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899227	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs11236749	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236752	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11606394	1.00[ASW][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs17749618	0.80[CEU][hapmap]
rs1939467	0.84[CEU][hapmap]
rs1939468	0.80[CEU][hapmap]
rs2251075	0.91[YRI][hapmap]
rs2508738	0.82[AFR][1000 genomes]
rs2508740	0.81[ASW][hapmap];0.96[CEU][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs2508741	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs2508753	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2508756	1.00[ASW][hapmap];0.85[LWK][hapmap];0.91[YRI][hapmap]
rs2508759	0.81[EUR][1000 genomes]
rs2508760	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2508761	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2508762	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs2513504	0.92[CEU][hapmap]
rs2513505	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2513508	0.93[ASW][hapmap];0.96[CEU][hapmap];0.97[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2513513	0.93[ASW][hapmap];0.92[CEU][hapmap];0.97[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.88[YRI][hapmap]
rs2513515	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs2513520	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2513523	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2513525	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap]
rs3016373	0.85[AFR][1000 genomes]
rs3753051	0.80[CEU][hapmap]
rs3814711	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4245443	0.93[ASW][hapmap];0.88[CEU][hapmap];0.97[GIH][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4272809	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300410	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625500	0.90[YRI][hapmap];0.89[AFR][1000 genomes]
rs4945087	0.86[ASW][hapmap];0.83[LWK][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes]
rs4945090	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5023625	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592635	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7106564	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7109548	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7123361	0.84[CEU][hapmap]
rs7125552	0.84[CEU][hapmap]
rs7926009	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940390	0.82[AFR][1000 genomes]
rs7942257	0.81[CEU][hapmap]
rs7949258	0.84[CEU][hapmap]
rs8848	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap]

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	nsv1050713	chr11:76147085-76267117	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv528623	chr11:76161389-76168219	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7107058	ARHGEF17	cis	cerebellum	SCAN
rs7107058	ALG8	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76157200-76168400	Weak transcription	Psoas Muscle	Psoas
2	chr11:76157200-76183400	Weak transcription	Gastric	stomach
3	chr11:76157200-76183600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:76157200-76183600	Weak transcription	Spleen	Spleen
5	chr11:76157200-76183800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:76157200-76190200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:76157200-76191200	Weak transcription	Stomach Mucosa	stomach
8	chr11:76157400-76169800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:76157400-76171000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:76157400-76174800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:76157400-76179800	Weak transcription	HSMMtube	muscle
12	chr11:76157400-76183400	Weak transcription	Right Ventricle	heart
13	chr11:76157400-76183600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:76157400-76183600	Weak transcription	Esophagus	oesophagus
15	chr11:76157400-76190200	Weak transcription	Colonic Mucosa	Colon
16	chr11:76157600-76173600	Weak transcription	Brain Substantia Nigra	brain
17	chr11:76157800-76169200	Weak transcription	Brain Anterior Caudate	brain
18	chr11:76157800-76174800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:76158000-76170000	Weak transcription	Fetal Heart	heart
20	chr11:76158000-76171400	Strong transcription	Liver	Liver
21	chr11:76158000-76171400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr11:76158000-76171800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:76158000-76171800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:76158000-76172000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:76158000-76172000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:76158000-76174800	Weak transcription	HMEC	breast
27	chr11:76158000-76177400	Strong transcription	Fetal Thymus	thymus
28	chr11:76158000-76181000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:76158200-76169200	Weak transcription	HepG2	liver
30	chr11:76158200-76179400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:76158200-76190200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:76158400-76171800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr11:76158400-76172200	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:76158600-76172200	Strong transcription	Dnd41	blood
35	chr11:76158600-76172800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:76158800-76169800	Weak transcription	GM12878-XiMat	blood
37	chr11:76158800-76171000	Weak transcription	NHEK	skin
38	chr11:76159000-76172800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:76159800-76190400	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:76160000-76178800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:76160400-76170400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:76160600-76168400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:76162000-76169000	Weak transcription	Thymus	Thymus
44	chr11:76162200-76171800	Weak transcription	Fetal Intestine Small	intestine
45	chr11:76162200-76173600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:76162200-76183600	Weak transcription	Lung	lung
47	chr11:76162400-76169200	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:76162400-76170000	Weak transcription	K562	blood
49	chr11:76162600-76171000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:76162800-76169400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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