Variant report

Variant	rs1080264
Chromosome Location	chr10:45971186-45971187
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	chr10:45965669..45968296-chr10:45969406..45974419,5	K562	blood:
2	chr10:45964374..45965989-chr10:45969805..45971343,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10793618	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793621	0.81[CEU][hapmap];0.97[CHD][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10900226	0.89[GIH][hapmap]
rs10900227	0.90[CEU][hapmap];0.95[GIH][hapmap]
rs11239558	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11239559	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11239564	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11239565	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11239567	0.92[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11239570	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11239577	0.90[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11239585	0.86[EUR][1000 genomes]
rs11239587	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.92[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11528544	0.90[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12217545	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12766066	0.90[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1565096	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1565097	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17157771	0.91[YRI][hapmap]
rs1982794	0.89[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1982795	0.90[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1994426	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3740107	0.94[EUR][1000 genomes]
rs3824617	0.81[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.93[JPT][hapmap];0.94[TSI][hapmap];0.83[EUR][1000 genomes]
rs4948673	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4949003	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7074524	0.95[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7095806	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73289207	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7896175	0.89[GIH][hapmap]
rs7900810	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7900977	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7918454	0.90[CEU][hapmap];0.85[CHB][hapmap];0.96[CHD][hapmap];0.81[JPT][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.83[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	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1080264	MARCH8	cis	cerebellum	SCAN
rs1080264	ANUBL1	cis	parietal	SCAN
rs1080264	RBP3	cis	parietal	SCAN
rs1080264	AGAP4	cis	Skin Sun Exposed Lower leg	GTEx
rs1080264	AGAP4	cis	Artery Tibial	GTEx
rs1080264	ZFAND4	cis	Nerve Tibial	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45964800-45971200	Weak transcription	Fetal Brain Male	brain
2	chr10:45966200-45971600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr10:45966400-45979800	Weak transcription	Thymus	Thymus
4	chr10:45967000-45971600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr10:45967400-45971200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:45967400-45971600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:45967600-45971200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr10:45967600-45971800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:45967600-45972400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:45967600-45974800	Weak transcription	Psoas Muscle	Psoas
11	chr10:45967600-45979200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr10:45967600-45979600	Weak transcription	Ovary	ovary
13	chr10:45967600-45983400	Weak transcription	Right Atrium	heart
14	chr10:45967800-45980200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:45967800-45985200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:45968000-45986000	Weak transcription	HepG2	liver
17	chr10:45968600-45971600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:45969400-45971400	Weak transcription	K562	blood
19	chr10:45969400-45983800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr10:45969600-45983400	Weak transcription	Liver	Liver
21	chr10:45969600-45983400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr10:45969800-45971600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
23	chr10:45969800-45983400	Weak transcription	Pancreas	Pancrea
24	chr10:45970200-45971400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr10:45970200-45971400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:45970400-45971200	Enhancers	Lung	lung
27	chr10:45970600-45971200	Weak transcription	Primary B cells from cord blood	blood
28	chr10:45970600-45983400	Weak transcription	Left Ventricle	heart
29	chr10:45970800-45972000	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr10:45970800-45983400	Weak transcription	Gastric	stomach
31	chr10:45971000-45971200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr10:45971000-45971200	Enhancers	Right Ventricle	heart

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