Variant report

Variant	rs17144836
Chromosome Location	chr5:118275079-118275080
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	chr5:118273316..118275131-chr5:118276806..118278842,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10519564	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11954152	0.84[ASN][1000 genomes]
rs11959589	1.00[CHB][hapmap]
rs12109156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12109252	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[GIH][hapmap]
rs12187606	1.00[JPT][hapmap]
rs1510971	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs17132677	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17144552	1.00[CHB][hapmap]
rs17144715	1.00[JPT][hapmap]
rs17144716	1.00[JPT][hapmap]
rs17144806	1.00[JPT][hapmap];0.83[YRI][hapmap]
rs17144824	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[YRI][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17144872	1.00[CHB][hapmap]
rs17144877	1.00[CHB][hapmap]
rs17144885	1.00[CHB][hapmap]
rs17144893	1.00[CHB][hapmap]
rs17381247	1.00[CEU][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap]
rs17440213	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap]
rs2029036	1.00[CEU][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap]
rs2084460	1.00[CHB][hapmap]
rs2217310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2377127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.96[ASN][1000 genomes]
rs34045550	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4392657	1.00[CHB][hapmap]
rs4634381	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4895183	1.00[JPT][hapmap];0.81[MKK][hapmap];0.91[YRI][hapmap]
rs55671162	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56191796	0.92[ASN][1000 genomes]
rs56406364	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs57581390	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs59241413	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6860946	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6862297	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap]
rs6863802	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs6870923	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs6871241	1.00[JPT][hapmap]
rs6874109	1.00[JPT][hapmap];0.85[LWK][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes]
rs6874399	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[ASN][1000 genomes]
rs6880144	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6892437	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs73239055	0.80[ASN][1000 genomes]
rs73239065	0.84[EUR][1000 genomes]
rs73792419	0.88[ASN][1000 genomes]
rs767935	0.93[ASN][1000 genomes]
rs7706037	1.00[CHB][hapmap]
rs7710339	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7721907	1.00[JPT][hapmap]
rs7724403	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7724753	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs7734815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7737716	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[LWK][hapmap];0.95[MKK][hapmap];0.91[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17144836	ACRV1	trans	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118225400-118300400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:118233800-118289200	Weak transcription	Psoas Muscle	Psoas
3	chr5:118244000-118279600	Weak transcription	Liver	Liver
4	chr5:118244000-118287400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:118250400-118289400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:118252000-118279000	Weak transcription	Left Ventricle	heart
7	chr5:118253200-118280200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:118253400-118279200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:118254000-118279800	Weak transcription	Pancreas	Pancrea
10	chr5:118256000-118277800	Weak transcription	Fetal Intestine Small	intestine
11	chr5:118257400-118285600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:118257600-118279800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:118258000-118280400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:118259600-118286800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:118259600-118305000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:118260600-118289400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:118262600-118282800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:118263000-118306000	Weak transcription	Primary T cells from cord blood	blood
19	chr5:118263400-118304000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:118268400-118286800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:118268600-118277400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:118269400-118276800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:118269400-118277800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:118269600-118286800	Weak transcription	Adipose Nuclei	Adipose
25	chr5:118270400-118291800	Weak transcription	Fetal Intestine Large	intestine
26	chr5:118271200-118277800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr5:118271600-118277800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:118271600-118288400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr5:118271800-118278400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:118271800-118286600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:118272200-118286000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:118273600-118295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:118274000-118280200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:118274000-118288000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:118274400-118281800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr5:118275000-118276200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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