Variant report

Variant	rs17161478
Chromosome Location	chr7:32649435-32649436
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10242306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11972394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973238	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12113174	0.87[EUR][1000 genomes]
rs17161413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161414	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161473	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[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];1.00[ASN][1000 genomes]
rs17161520	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17362747	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17364567	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17381638	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs3857734	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56734782	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57106834	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57991351	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61044748	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs66771705	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66852908	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66999743	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67012805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67068823	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67200335	0.81[EUR][1000 genomes]
rs67223828	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67384597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67497452	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67644203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67920735	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67967792	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67992039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6954893	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs6957621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961223	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap]
rs73099479	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73099485	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73103074	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73104922	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73107033	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73107064	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73303557	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73303576	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73307500	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309516	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309588	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776985	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777552	1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs7798182	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801939	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap]
rs7803586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690174	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887921	chr7:32249622-32729174	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv887922	chr7:32502105-32694219	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv3337088	chr7:32563206-32859668	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv887923	chr7:32573570-32729174	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv887924	chr7:32649189-32743320	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17161478	KIAA0241	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:32629200-32649800	Weak transcription	Left Ventricle	heart
2	chr7:32629200-32656000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:32629600-32650200	Weak transcription	Brain Anterior Caudate	brain
4	chr7:32629600-32650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:32629600-32650600	Weak transcription	Brain Angular Gyrus	brain
6	chr7:32630000-32675400	Weak transcription	Fetal Heart	heart
7	chr7:32631400-32650800	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:32631400-32708600	Weak transcription	Pancreas	Pancrea
9	chr7:32632800-32649600	Weak transcription	Fetal Intestine Large	intestine
10	chr7:32632800-32658600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:32633200-32685200	Weak transcription	HepG2	liver
12	chr7:32633400-32650800	Weak transcription	Fetal Stomach	stomach
13	chr7:32635000-32650600	Weak transcription	HSMMtube	muscle
14	chr7:32635000-32654000	Weak transcription	HSMM	muscle
15	chr7:32642600-32651200	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:32645000-32650800	Weak transcription	Aorta	Aorta
17	chr7:32645000-32651000	Weak transcription	Fetal Kidney	kidney
18	chr7:32645200-32650600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr7:32645200-32650600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:32645200-32655200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:32645200-32656800	Weak transcription	Liver	Liver
22	chr7:32645600-32650800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:32645800-32654200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:32647200-32650600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:32647600-32652200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:32647800-32656200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr7:32648200-32708000	Weak transcription	Fetal Intestine Small	intestine
28	chr7:32648400-32651200	Weak transcription	Spleen	Spleen
29	chr7:32649000-32649600	Enhancers	A549	lung
30	chr7:32649400-32650200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:32649400-32650400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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