Variant report

Variant	rs17648695
Chromosome Location	chr11:100858425-100858426
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	chr11:100851180..100854144-chr11:100858258..100861196,2	K562	blood:
2	chr11:100856345..100859552-chr11:100865744..100869877,3	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1047624	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10501968	0.80[TSI][hapmap]
rs11224511	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11224517	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11224518	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11224519	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11224520	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11224528	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11224529	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12273212	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs12276190	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12281543	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12283290	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs12285336	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12286700	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12286931	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12290272	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12417750	0.95[EUR][1000 genomes]
rs17095829	0.80[TSI][hapmap]
rs17646129	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17646702	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17647068	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs17647243	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17648451	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs17654386	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17654410	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17654633	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17659845	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17713573	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17726649	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17726667	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17726715	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs17726918	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17727251	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17727449	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17727789	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17727843	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1940220	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1940222	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1944433	0.80[TSI][hapmap]
rs1944434	0.80[TSI][hapmap]
rs1944435	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2226640	0.99[EUR][1000 genomes]
rs41392445	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap]
rs55952345	0.97[EUR][1000 genomes]
rs56199820	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60312663	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7924400	0.88[EUR][1000 genomes]
rs7948907	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7949497	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[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	nsv1048356	chr11:100713096-101058995	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv541154	chr11:100713096-101058995	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17648695	ANGPTL5	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100844000-100860200	Strong transcription	Placenta	Placenta
2	chr11:100844800-100863000	Weak transcription	Brain Anterior Caudate	brain
3	chr11:100848000-100861800	Weak transcription	Fetal Heart	heart
4	chr11:100848200-100858600	Weak transcription	Gastric	stomach
5	chr11:100848200-100859600	Weak transcription	Stomach Mucosa	stomach
6	chr11:100848200-100861200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:100848200-100866000	Weak transcription	Psoas Muscle	Psoas
8	chr11:100848400-100859800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:100848400-100859800	Weak transcription	Fetal Kidney	kidney
10	chr11:100848400-100860800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:100848400-100863200	Weak transcription	Fetal Intestine Large	intestine
12	chr11:100848400-100864600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:100848600-100859200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:100848600-100863400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:100848600-100865200	Weak transcription	Left Ventricle	heart
16	chr11:100848600-100865800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:100848800-100860000	Weak transcription	NH-A	brain
18	chr11:100848800-100864800	Weak transcription	HSMM	muscle
19	chr11:100849000-100862000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:100849000-100863000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr11:100849200-100867400	Weak transcription	Fetal Lung	lung
22	chr11:100850000-100859800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:100850000-100861600	Weak transcription	Adipose Nuclei	Adipose
24	chr11:100850600-100864600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:100851000-100870400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:100852000-100860400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:100854600-100860600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:100855600-100858800	Weak transcription	Primary B cells from cord blood	blood
29	chr11:100855800-100859600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:100856200-100858600	Strong transcription	Fetal Muscle Leg	muscle
31	chr11:100856400-100858600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:100856400-100859400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr11:100856400-100860000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:100856400-100862600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:100857200-100858800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:100857200-100858800	Strong transcription	Liver	Liver
37	chr11:100857200-100860000	Weak transcription	Fetal Intestine Small	intestine
38	chr11:100857400-100858600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:100857400-100860000	Weak transcription	Fetal Stomach	stomach
40	chr11:100857400-100864600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:100857600-100870400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:100858000-100858600	Strong transcription	Duodenum Mucosa	Duodenum
43	chr11:100858400-100861200	Weak transcription	HSMMtube	muscle

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