Variant report

Variant	rs26481
Chromosome Location	chr5:96103352-96103353
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:96101314-96103720	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96102219..96104201-chr5:96107626..96110248,2	K562	blood:
2	chr5:96095035..96097492-chr5:96101981..96103537,2	MCF-7	breast:

Variant related genes	Relation type
CAST	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10037212	0.82[CHD][hapmap]
rs13181579	0.83[ASN][1000 genomes]
rs152479	0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs17401719	0.94[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs17480169	0.83[ASN][1000 genomes]
rs1862609	0.82[CHD][hapmap]
rs25862	0.83[CHD][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs25863	0.80[EUR][1000 genomes]
rs26501	0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs26502	0.80[CEU][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs26509	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs27033	0.81[JPT][hapmap]
rs27525	0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs27581	0.83[CHD][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs28096	0.96[CEU][hapmap];0.86[GIH][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28432918	0.83[ASN][1000 genomes]
rs28580505	0.83[ASN][1000 genomes]
rs3797814	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs731827	0.82[CHD][hapmap]
rs7356594	0.94[CHD][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs7705827	0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv516293	chr5:96070205-96216387	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs26481	ARTS-1	cis	lesional skin	skin_eQTL
rs26481	ARTS-1	cis	uninvolved skin	skin_eQTL
rs26481	ERAP1	cis	cerebellum	SCAN
rs26481	ERAP1	cis	lymphoblastoid	seeQTL
rs26481	ERAP1	cis	Muscle Skeletal	GTEx
rs26481	CAST	cis	lymphoblastoid	seeQTL
rs26481	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL
rs26481	ARTS-1	cis	normal skin	skin_eQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96063000-96126200	Weak transcription	Brain Germinal Matrix	brain
2	chr5:96068400-96138200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr5:96068600-96130000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:96070200-96116400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr5:96071000-96112800	Strong transcription	Hela-S3	cervix
6	chr5:96071400-96113000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr5:96071400-96126600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:96072600-96115600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:96073400-96115600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:96075200-96120400	Weak transcription	Fetal Brain Female	brain
11	chr5:96078000-96111200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:96079400-96115600	Strong transcription	HMEC	breast
13	chr5:96079400-96126600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr5:96079600-96112800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:96079600-96115400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:96079600-96115600	Strong transcription	NHDF-Ad	bronchial
17	chr5:96079600-96123600	Strong transcription	Placenta	Placenta
18	chr5:96079600-96126400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:96079600-96126600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:96079600-96126600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr5:96083800-96108800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr5:96083800-96116400	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr5:96087200-96113800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:96088000-96104200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:96088800-96107400	Strong transcription	A549	lung
26	chr5:96089200-96137000	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr5:96090400-96110000	Strong transcription	HUVEC	blood vessel
28	chr5:96092800-96126600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:96094600-96115600	Strong transcription	HSMM	muscle
30	chr5:96094800-96110000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:96096200-96115800	Strong transcription	NH-A	brain
32	chr5:96096400-96122800	Strong transcription	Primary B cells from cord blood	blood
33	chr5:96096600-96107000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:96096600-96116400	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr5:96097400-96106800	Strong transcription	NHEK	skin
36	chr5:96097400-96108200	Strong transcription	Left Ventricle	heart
37	chr5:96097400-96110000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:96097400-96110200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:96097400-96113400	Strong transcription	Adipose Nuclei	Adipose
40	chr5:96097400-96113800	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr5:96097400-96115000	Strong transcription	Fetal Intestine Large	intestine
42	chr5:96097400-96115800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr5:96097400-96118000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:96097400-96130000	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr5:96097400-96131800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:96097400-96138400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr5:96097600-96106800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr5:96097600-96119200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr5:96097800-96104600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr5:96097800-96126600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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