Variant report

Variant	rs8081095
Chromosome Location	chr17:45812488-45812489
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45806529..45809285-chr17:45811210..45813410,2	MCF-7	breast:
2	chr17:45811931..45814457-chr17:45821701..45824432,2	MCF-7	breast:
3	chr17:45770364..45773006-chr17:45811021..45813221,2	K562	blood:
4	chr17:45770190..45771864-chr17:45811721..45814542,2	K562	blood:
5	chr17:45811192..45813329-chr17:45818442..45821780,3	K562	blood:

Variant related genes	Relation type
ENSG00000198933	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10445375	1.00[CHB][hapmap]
rs11079791	1.00[CHB][hapmap]
rs11655336	1.00[CHB][hapmap]
rs12721470	1.00[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs16946264	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17244587	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17699436	0.96[ASN][1000 genomes]
rs2325717	0.81[ASN][1000 genomes]
rs2875720	0.89[ASN][1000 genomes]
rs41515744	0.96[ASN][1000 genomes]
rs56336232	0.96[ASN][1000 genomes]
rs57570362	0.96[ASN][1000 genomes]
rs58606102	0.96[ASN][1000 genomes]
rs58805251	0.96[ASN][1000 genomes]
rs60156897	0.89[ASN][1000 genomes]
rs72648870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648872	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667004	1.00[ASN][1000 genomes]
rs72831648	0.96[ASN][1000 genomes]
rs72831650	0.96[ASN][1000 genomes]
rs72831652	0.96[ASN][1000 genomes]
rs72831653	0.96[ASN][1000 genomes]
rs72831657	0.96[ASN][1000 genomes]
rs72831659	0.96[ASN][1000 genomes]
rs7342912	0.96[ASN][1000 genomes]
rs7342955	0.96[ASN][1000 genomes]
rs8076180	0.89[ASN][1000 genomes]
rs8076527	0.89[ASN][1000 genomes]
rs8077085	0.89[ASN][1000 genomes]
rs8080756	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908571	chr17:45765249-45821510	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
3	nsv2071	chr17:45801503-45844229	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs8081095	C17orf57	cis	parietal	SCAN
rs8081095	C17orf65	cis	parietal	SCAN
rs8081095	NBR2	cis	cerebellum	SCAN
rs8081095	HOXB7	cis	lymphoblastoid	seeQTL
rs8081095	KIF18B	cis	cerebellum	SCAN
rs8081095	UBTF	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45810400-45813200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
2	chr17:45810400-45813200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:45810400-45813400	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr17:45810400-45814000	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr17:45810400-45814400	Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr17:45810600-45813000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:45811200-45813000	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr17:45811200-45814600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:45811400-45822000	Weak transcription	Right Atrium	heart
10	chr17:45811600-45812600	Bivalent/Poised TSS	Esophagus	oesophagus
11	chr17:45811600-45812800	Bivalent/Poised TSS	Colonic Mucosa	Colon
12	chr17:45811600-45813400	Enhancers	Primary B cells from cord blood	blood
13	chr17:45811600-45813400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
14	chr17:45811800-45812600	Active TSS	Primary T cells fromperipheralblood	blood
15	chr17:45811800-45812600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr17:45811800-45812800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
17	chr17:45811800-45813600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr17:45812000-45812600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:45812000-45812600	Active TSS	Spleen	Spleen
20	chr17:45812000-45812800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
21	chr17:45812400-45812600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr17:45812400-45812600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
23	chr17:45812400-45813200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr17:45812400-45814800	Flanking Active TSS	GM12878-XiMat	blood
25	chr17:45812400-45815000	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood

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