Variant report

Variant	rs2572010
Chromosome Location	chr7:99488543-99488544
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99485783..99488764-chr7:99489956..99491818,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10235630	0.81[ASN][1000 genomes]
rs1025576	0.92[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1048705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10808114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1121592	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13310903	0.86[ASN][1000 genomes]
rs1865472	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2060452	0.96[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2082744	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2082745	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2099445	0.82[ASN][1000 genomes]
rs2247761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2247762	0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2525541	0.85[CHB][hapmap]
rs2525548	0.85[CHB][hapmap]
rs2527886	0.84[CHB][hapmap]
rs2527890	0.84[CHB][hapmap]
rs2527894	0.84[CHB][hapmap]
rs2527897	0.84[CHB][hapmap]
rs2527899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2527900	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2527901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2527902	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2527903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2527904	0.94[ASN][1000 genomes]
rs2527906	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2527907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2527908	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2527909	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2527911	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527912	0.96[ASN][1000 genomes]
rs2527913	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527915	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527916	0.97[ASN][1000 genomes]
rs2527918	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2527919	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527920	0.96[ASN][1000 genomes]
rs2527921	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2527925	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2527926	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2527927	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2571991	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2571992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2571993	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2571994	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2571995	0.94[ASN][1000 genomes]
rs2571996	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2571997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2571998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2571999	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2572000	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2572002	0.91[ASN][1000 genomes]
rs2572003	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2572005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2572006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2572008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2572009	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2572011	0.97[ASN][1000 genomes]
rs2572012	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2572013	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2572015	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2572018	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2572019	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2572022	0.93[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2572023	0.81[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2572024	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4727439	0.96[ASN][1000 genomes]
rs474229	0.93[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs503115	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7781442	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7809747	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	esv1792388	chr7:99468155-99497338	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv966726	chr7:99473527-99488698	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs2572010	TRIM4	cis	uninvolved skin	skin_eQTL
rs2572010	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs2572010	TRIM4	cis	Artery Aorta	GTEx
rs2572010	TRIM4	cis	Lymphoblastoid	GTEx
rs2572010	TRIM4	cis	Esophagus Muscularis	GTEx
rs2572010	TRIM4	cis	Adipose Subcutaneous	GTEx
rs2572010	TRIM4	cis	Skin Sun Exposed Lower leg	GTEx
rs2572010	TRIM4	cis	lesional skin	skin_eQTL
rs2572010	TRIM4	cis	Stomach	GTEx
rs2572010	TRIM4	cis	lung	GTEx
rs2572010	TRIM4	cis	Nerve Tibial	GTEx
rs2572010	TRIM4	cis	Muscle Skeletal	GTEx
rs2572010	TRIM4	cis	Artery Tibial	GTEx
rs2572010	TRIM4	cis	Whole Blood	GTEx
rs2572010	TRIM4	cis	normal skin	skin_eQTL
rs2572010	TRIM4	cis	Thyroid	GTEx
rs2572010	TRIM4	Cis_1M	lymphoblastoid	RTeQTL
rs2572010	TRIM4	cis	multi-tissue	Pritchard
rs2572010	TRIM4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99458200-99489600	Weak transcription	Pancreas	Pancrea
2	chr7:99470000-99489600	Weak transcription	Gastric	stomach
3	chr7:99472600-99488800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:99479200-99488800	Weak transcription	Thymus	Thymus
5	chr7:99479800-99499200	Weak transcription	Small Intestine	intestine
6	chr7:99485200-99499000	Weak transcription	Psoas Muscle	Psoas
7	chr7:99485400-99489000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:99485600-99498200	Weak transcription	NHDF-Ad	bronchial
9	chr7:99485800-99488800	Weak transcription	A549	lung
10	chr7:99485800-99489200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:99485800-99495400	Weak transcription	GM12878-XiMat	blood
12	chr7:99485800-99498200	Weak transcription	HSMMtube	muscle
13	chr7:99485800-99498800	Weak transcription	K562	blood
14	chr7:99486000-99488600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:99486000-99489600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:99486000-99497400	Weak transcription	Esophagus	oesophagus
17	chr7:99486400-99501000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:99486600-99498000	Weak transcription	NH-A	brain
19	chr7:99486800-99490600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:99486800-99491200	Strong transcription	Primary T cells from cord blood	blood
21	chr7:99486800-99498800	Weak transcription	HUVEC	blood vessel
22	chr7:99486800-99499200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:99487000-99488600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:99487000-99489800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:99487000-99490000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:99487000-99490200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:99487000-99490200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:99487000-99490200	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:99487000-99490200	Strong transcription	Fetal Thymus	thymus
30	chr7:99487000-99490400	Strong transcription	Adipose Nuclei	Adipose
31	chr7:99487000-99490400	Strong transcription	Placenta	Placenta
32	chr7:99487000-99490600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:99487000-99490600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:99487000-99490600	Strong transcription	Brain Inferior Temporal Lobe	brain
35	chr7:99487000-99490600	Strong transcription	Right Ventricle	heart
36	chr7:99487000-99490600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr7:99487000-99490600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:99487200-99488600	Strong transcription	Spleen	Spleen
39	chr7:99487200-99489000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr7:99487200-99489800	Strong transcription	Brain Substantia Nigra	brain
41	chr7:99487200-99490000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:99487200-99490000	Weak transcription	NHEK	skin
43	chr7:99487200-99490200	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr7:99487200-99490200	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr7:99487200-99490400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:99487200-99490600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:99487200-99490600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:99487200-99490600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:99487200-99490600	Strong transcription	Brain Anterior Caudate	brain
50	chr7:99487200-99490600	Strong transcription	Brain Cingulate Gyrus	brain

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