Variant report

Variant	rs4483614
Chromosome Location	chr11:74525852-74525853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74525648..74527452-chr11:74528928..74531947,3	K562	blood:
2	chr11:74518587..74521115-chr11:74524399..74526810,2	K562	blood:
3	chr11:74518587..74521101-chr11:74524616..74526810,3	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10160410	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10751241	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10793105	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10793107	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10793108	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10899042	0.88[CHD][hapmap]
rs10899045	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899051	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10899052	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10899053	0.92[CEU][hapmap];0.95[JPT][hapmap]
rs11236236	0.84[CHD][hapmap]
rs11236244	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11236281	0.87[CEU][hapmap];0.95[JPT][hapmap]
rs11236282	0.91[CEU][hapmap];0.95[JPT][hapmap]
rs11603294	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs12221841	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12223417	0.95[JPT][hapmap]
rs12225372	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12225387	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12417156	0.84[CHD][hapmap]
rs12419113	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12419929	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12421899	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12574850	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12575200	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12576129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12576444	0.84[CHD][hapmap]
rs12577127	0.92[CEU][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap]
rs12577614	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1371410	0.92[CEU][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap]
rs1433771	0.81[CHD][hapmap]
rs17133461	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2119028	0.84[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2165162	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2165163	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2298746	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2304683	0.84[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3814726	0.84[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4944061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944944	0.84[CHD][hapmap]
rs4944947	0.88[CHD][hapmap];0.82[JPT][hapmap]
rs4944950	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944960	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944961	0.88[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944963	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs58918874	0.83[AFR][1000 genomes]
rs59143825	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59328242	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61671395	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61734374	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61894779	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61894839	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7102619	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7103136	0.88[CHD][hapmap];0.91[JPT][hapmap]
rs7105085	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7128739	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs725460	0.82[AMR][1000 genomes]
rs7396866	0.92[CEU][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap]
rs7483351	0.90[CEU][hapmap];0.95[JPT][hapmap]
rs7928381	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs919877	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs968305	0.83[CHD][hapmap]
rs9787775	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9787897	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
7	nsv897916	chr11:74465068-74574677	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv897917	chr11:74474266-74595507	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs4483614	XRRA1	cis	Muscle Skeletal	GTEx
rs4483614	RP11-147I3.1	cis	Thyroid	GTEx
rs4483614	XRRA1	cis	Skin Sun Exposed Lower leg	GTEx
rs4483614	RP11-147I3.1	cis	Esophagus Muscularis	GTEx
rs4483614	XRRA1	cis	Whole Blood	GTEx
rs4483614	XRRA1	cis	Artery Tibial	GTEx
rs4483614	RP11-147I3.1	cis	Muscle Skeletal	GTEx
rs4483614	XRRA1	cis	Esophagus Muscularis	GTEx
rs4483614	XRRA1	cis	Adipose Subcutaneous	GTEx
rs4483614	XRRA1	cis	Heart Left Ventricle	GTEx
rs4483614	XRRA1	cis	lung	GTEx
rs4483614	XRRA1	cis	Thyroid	GTEx
rs4483614	XRRA1	cis	Esophagus Mucosa	GTEx
rs4483614	XRRA1	cis	Artery Aorta	GTEx
rs4483614	XRRA1	cis	Nerve Tibial	GTEx
rs4483614	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs4483614	XRRA1	cis	lesional skin	skin_eQTL
rs4483614	XRRA1	cis	Stomach	GTEx
rs4483614	XRRA1	cis	normal skin	skin_eQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74494800-74530600	Weak transcription	NH-A	brain
2	chr11:74496200-74533000	Weak transcription	Fetal Brain Male	brain
3	chr11:74502600-74527800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:74502800-74545600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:74503000-74528400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:74503000-74529400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:74503000-74530200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:74503000-74530600	Weak transcription	HSMMtube	muscle
9	chr11:74503000-74531600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:74503000-74533000	Weak transcription	Right Ventricle	heart
11	chr11:74503200-74528600	Weak transcription	Lung	lung
12	chr11:74503200-74533000	Weak transcription	Gastric	stomach
13	chr11:74503200-74537800	Weak transcription	Pancreas	Pancrea
14	chr11:74503800-74529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:74504200-74528600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:74504400-74531600	Weak transcription	HMEC	breast
17	chr11:74504400-74534600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:74505400-74527600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:74507000-74530200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:74508200-74529000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:74509000-74527800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:74509000-74528600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:74509200-74530000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:74509200-74531000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:74509400-74530000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:74509600-74533000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:74509800-74534600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:74510400-74528000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:74515400-74528600	Weak transcription	Right Atrium	heart
30	chr11:74515400-74533000	Weak transcription	Esophagus	oesophagus
31	chr11:74515800-74527800	Weak transcription	NHEK	skin
32	chr11:74517600-74526800	Weak transcription	Fetal Heart	heart
33	chr11:74518400-74530000	Weak transcription	A549	lung
34	chr11:74518400-74530600	Weak transcription	Psoas Muscle	Psoas
35	chr11:74518600-74527000	Weak transcription	K562	blood
36	chr11:74518600-74530200	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:74518600-74531600	Weak transcription	Brain Angular Gyrus	brain
38	chr11:74519200-74528600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:74519800-74526000	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:74519800-74527200	Weak transcription	Thymus	Thymus
41	chr11:74519800-74527800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:74519800-74529400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:74519800-74529600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:74519800-74531600	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:74519800-74534200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr11:74520000-74528200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:74520000-74528600	Weak transcription	Brain Germinal Matrix	brain
48	chr11:74520000-74528600	Weak transcription	Fetal Brain Female	brain
49	chr11:74520000-74529000	Weak transcription	Fetal Kidney	kidney
50	chr11:74520000-74533000	Weak transcription	Small Intestine	intestine

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