Variant report

Variant	rs2277598
Chromosome Location	chr15:73027478-73027479
allele	A/G
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	USF2	chr15:73027434-73028069	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:73026426-73028482	K562	blood:	n/a	n/a
3	POLR2A	chr15:73027445-73027646	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:73025418-73028183	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:73027350-73027762	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72978883..72980919-chr15:73025978..73027786,2	MCF-7	breast:

Variant related genes	Relation type
BBS4	TF binding region
ENSG00000140463	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10459647	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072385	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11631214	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11631352	0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2162269	0.83[ASN][1000 genomes]
rs2304597	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28582982	0.91[ASN][1000 genomes]
rs34661924	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3850986	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4776613	0.86[ASN][1000 genomes]
rs4776614	0.94[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs4777532	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777534	0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[ASN][1000 genomes]
rs4777536	0.93[ASN][1000 genomes]
rs4777542	0.86[ASN][1000 genomes]
rs55914134	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62017600	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6495015	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7167076	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7171728	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7176223	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7176235	0.95[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7178130	0.83[ASW][hapmap];0.95[CEU][hapmap];0.83[CHB][hapmap];0.98[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8024986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8025333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8027181	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8030477	0.94[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8031455	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8033073	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8033580	0.95[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9460	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs998020	0.88[AMR][1000 genomes];0.93[EUR][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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2277598	ARIH1	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72993000-73028800	Weak transcription	NHEK	skin
2	chr15:72999000-73044000	Weak transcription	Small Intestine	intestine
3	chr15:72999600-73027600	Weak transcription	NHLF	lung
4	chr15:73001200-73027600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:73001400-73027600	Weak transcription	Right Ventricle	heart
6	chr15:73001800-73033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
8	chr15:73002200-73028800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:73002400-73028800	Weak transcription	Psoas Muscle	Psoas
10	chr15:73003000-73028800	Weak transcription	Dnd41	blood
11	chr15:73003000-73031400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr15:73003200-73027800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr15:73003200-73029000	Weak transcription	Esophagus	oesophagus
14	chr15:73003400-73029000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:73003400-73044000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:73004400-73028000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:73004600-73027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:73005000-73027600	Weak transcription	NHDF-Ad	bronchial
19	chr15:73005000-73028600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:73005000-73031800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr15:73010200-73028000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:73018800-73032000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:73018800-73033400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:73019000-73032600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:73019400-73031600	Strong transcription	Primary T cells from cord blood	blood
26	chr15:73020600-73034600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:73020800-73027600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr15:73021000-73044200	Weak transcription	HUVEC	blood vessel
29	chr15:73021200-73028200	Weak transcription	NH-A	brain
30	chr15:73021200-73034000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:73021400-73033000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:73021400-73044200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:73021800-73032200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:73021800-73033000	Strong transcription	Primary B cells from cord blood	blood
35	chr15:73022000-73033400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr15:73022800-73032800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:73022800-73032800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr15:73022800-73033600	Strong transcription	Liver	Liver
39	chr15:73022800-73034400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:73023000-73033800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:73023200-73033000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:73023400-73032600	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr15:73023600-73031200	Strong transcription	Fetal Brain Female	brain
44	chr15:73023600-73031800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr15:73023600-73032200	Strong transcription	Lung	lung
46	chr15:73023600-73033200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr15:73023800-73031000	Strong transcription	Brain Anterior Caudate	brain
48	chr15:73023800-73031400	Strong transcription	Ovary	ovary
49	chr15:73024200-73027600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr15:73024200-73027600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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