Variant report

Variant	rs13177695
Chromosome Location	chr5:95407719-95407720
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	chr5:95403553..95405838-chr5:95406923..95410499,3	K562	blood:
2	chr5:95406044..95407989-chr5:95410489..95412810,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10035693	0.83[ASN][1000 genomes]
rs10067223	0.81[ASN][1000 genomes]
rs10069928	0.85[ASN][1000 genomes]
rs11743163	0.85[ASN][1000 genomes]
rs11749497	0.85[ASN][1000 genomes]
rs11749696	0.85[ASN][1000 genomes]
rs11948972	1.00[ASW][hapmap]
rs11949248	0.85[ASN][1000 genomes]
rs11952256	0.85[ASN][1000 genomes]
rs12716476	0.85[ASN][1000 genomes]
rs13155590	0.85[ASN][1000 genomes]
rs13159130	0.85[ASN][1000 genomes]
rs13163008	0.85[ASN][1000 genomes]
rs13164421	0.85[ASN][1000 genomes]
rs13164915	0.85[ASN][1000 genomes]
rs13165259	0.85[ASN][1000 genomes]
rs13177025	0.85[ASN][1000 genomes]
rs13179624	0.85[ASN][1000 genomes]
rs13183018	0.85[ASN][1000 genomes]
rs13184977	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13190113	0.81[ASN][1000 genomes]
rs13354750	0.85[ASN][1000 genomes]
rs13354771	0.85[ASN][1000 genomes]
rs34959983	0.82[ASN][1000 genomes]
rs4128935	0.81[ASN][1000 genomes]
rs4242234	0.85[ASN][1000 genomes]
rs4599555	0.85[ASN][1000 genomes]
rs4869126	0.85[ASN][1000 genomes]
rs4869127	0.85[ASN][1000 genomes]
rs4869129	0.83[ASN][1000 genomes]
rs4869262	0.85[ASN][1000 genomes]
rs4869263	0.85[ASN][1000 genomes]
rs4869265	0.85[ASN][1000 genomes]
rs4869267	0.85[ASN][1000 genomes]
rs4869268	0.83[ASN][1000 genomes]
rs6556903	0.85[ASN][1000 genomes]
rs6556905	0.83[ASN][1000 genomes]
rs6556907	0.83[ASN][1000 genomes]
rs6859508	0.83[ASN][1000 genomes]
rs6861044	0.85[ASN][1000 genomes]
rs6867520	0.83[ASN][1000 genomes]
rs6868592	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889982	0.85[ASN][1000 genomes]
rs7717153	0.85[ASN][1000 genomes]
rs7720647	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758003	chr5:95231706-95540433	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	esv2759355	chr5:95231706-95540433	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv823146	chr5:95300912-95453557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv2757121	chr5:95304236-95539536	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	esv34203	chr5:95310985-95452324	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv522097	chr5:95347786-95425199	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv522465	chr5:95347786-95425199	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13177695	ERAP2	cis	parietal	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95401600-95416400	Weak transcription	Psoas Muscle	Psoas
2	chr5:95402000-95410600	Weak transcription	Stomach Mucosa	stomach
3	chr5:95402600-95410600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:95402600-95423800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:95404200-95410200	Weak transcription	Pancreas	Pancrea
6	chr5:95404200-95410200	Weak transcription	Small Intestine	intestine
7	chr5:95404400-95408400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:95404400-95410200	Weak transcription	HSMM	muscle
9	chr5:95404400-95416800	Weak transcription	Aorta	Aorta
10	chr5:95404600-95410200	Weak transcription	Osteobl	bone
11	chr5:95404800-95410200	Weak transcription	HUVEC	blood vessel
12	chr5:95404800-95411600	Weak transcription	NHDF-Ad	bronchial
13	chr5:95405200-95408200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:95406000-95408200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:95406000-95408400	Enhancers	HMEC	breast
16	chr5:95406200-95408400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:95406200-95409200	Enhancers	Fetal Thymus	thymus
18	chr5:95406600-95410400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:95406800-95407800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:95406800-95410000	Weak transcription	A549	lung
21	chr5:95406800-95414800	Weak transcription	NHLF	lung
22	chr5:95407000-95408000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr5:95407000-95408000	Weak transcription	Dnd41	blood
24	chr5:95407000-95408400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:95407000-95410000	Weak transcription	HepG2	liver
26	chr5:95407000-95410200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:95407200-95410000	Weak transcription	Hela-S3	cervix
28	chr5:95407200-95410400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:95407200-95410400	Weak transcription	NHEK	skin
30	chr5:95407200-95411600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:95407400-95407800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:95407400-95410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:95407400-95410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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