Variant report

Variant	rs7483351
Chromosome Location	chr11:74720593-74720594
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74718841..74721499-chr11:74918282..74920055,2	K562	blood:
2	chr11:74720465..74722303-chr11:74950912..74953761,2	K562	blood:
3	chr11:74720292..74723058-chr11:74725364..74728769,4	K562	blood:
4	chr11:74720213..74722321-chr11:74770764..74773550,2	K562	blood:
5	chr11:74709502..74714442-chr11:74716351..74722182,6	K562	blood:

Variant related genes	Relation type
ENSG00000255136	Chromatin interaction
ENSG00000261594	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10751241	0.90[CEU][hapmap];0.91[JPT][hapmap]
rs10793107	0.95[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793108	0.90[CEU][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10899051	0.81[AMR][1000 genomes]
rs10899052	0.90[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs10899053	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899054	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10899058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899059	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899060	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11236281	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236282	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236290	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11236294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11236296	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11600328	0.83[AFR][1000 genomes]
rs11603294	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12221841	0.91[CEU][hapmap];0.91[JPT][hapmap]
rs12577127	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12577614	0.85[AMR][1000 genomes]
rs1371410	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2119028	0.95[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes]
rs2165162	0.95[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs2165163	0.95[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs2298746	0.90[CEU][hapmap];0.95[JPT][hapmap]
rs2304683	0.90[CEU][hapmap];0.95[JPT][hapmap]
rs3814726	0.95[JPT][hapmap]
rs4245440	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4387374	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4483614	0.90[CEU][hapmap];0.95[JPT][hapmap]
rs4944960	0.91[CEU][hapmap];0.90[JPT][hapmap]
rs4944961	0.95[JPT][hapmap]
rs4944965	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944968	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56194145	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7105085	0.90[CEU][hapmap];0.95[JPT][hapmap]
rs7109716	0.83[AFR][1000 genomes]
rs7128739	0.90[CEU][hapmap];0.95[JPT][hapmap]
rs725460	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7396866	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs919877	0.91[CEU][hapmap];0.90[JPT][hapmap]
rs9787775	0.95[CEU][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes]
rs9787897	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs7483351	XRRA1	cis	Nerve Tibial	GTEx
rs7483351	XRRA1	cis	Muscle Skeletal	GTEx
rs7483351	XRRA1	cis	Heart Left Ventricle	GTEx
rs7483351	XRRA1	cis	Artery Tibial	GTEx
rs7483351	XRRA1	cis	Esophagus Mucosa	GTEx
rs7483351	XRRA1	cis	Skin Sun Exposed Lower leg	GTEx
rs7483351	XRRA1	cis	Stomach	GTEx
rs7483351	XRRA1	cis	Artery Aorta	GTEx
rs7483351	XRRA1	cis	lung	GTEx
rs7483351	XRRA1	cis	Esophagus Muscularis	GTEx
rs7483351	XRRA1	cis	Adipose Subcutaneous	GTEx
rs7483351	XRRA1	Cis_1M	lymphoblastoid	RTeQTL
rs7483351	XRRA1	cis	Thyroid	GTEx
rs7483351	XRRA1	cis	Whole Blood	GTEx
rs7483351	RP11-147I3.1	cis	Thyroid	GTEx
rs7483351	RP11-147I3.1	cis	Muscle Skeletal	GTEx
rs7483351	XRRA1	cis	lesional skin	skin_eQTL
rs7483351	XRRA1	cis	normal skin	skin_eQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74700400-74723000	Weak transcription	Small Intestine	intestine
2	chr11:74700600-74722600	Weak transcription	HSMM	muscle
3	chr11:74700600-74725000	Weak transcription	HSMMtube	muscle
4	chr11:74701000-74722000	Weak transcription	Fetal Kidney	kidney
5	chr11:74701000-74722600	Weak transcription	HUVEC	blood vessel
6	chr11:74701000-74723800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:74701600-74721600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:74702400-74722800	Weak transcription	Stomach Mucosa	stomach
9	chr11:74703200-74720600	Weak transcription	Psoas Muscle	Psoas
10	chr11:74712000-74728200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:74714200-74725400	Strong transcription	Dnd41	blood
12	chr11:74714800-74725000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:74715000-74723600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:74715000-74724000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:74715400-74721000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:74715400-74721600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:74715400-74723600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:74715400-74723800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:74715600-74723600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:74715600-74725400	Strong transcription	Liver	Liver
21	chr11:74716000-74721000	Strong transcription	Osteobl	bone
22	chr11:74716200-74721600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:74716200-74721600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:74716200-74721800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:74716200-74721800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr11:74716200-74722000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:74716200-74722200	Strong transcription	K562	blood
28	chr11:74716200-74724000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:74716200-74724000	Strong transcription	GM12878-XiMat	blood
30	chr11:74716200-74725600	Strong transcription	Primary T cells from cord blood	blood
31	chr11:74716400-74720600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:74716400-74721000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:74716400-74721600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr11:74716400-74721600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:74716400-74721600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr11:74716400-74721600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:74716400-74721600	Strong transcription	Left Ventricle	heart
38	chr11:74716400-74721600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr11:74716400-74721800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:74716400-74721800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:74716400-74722000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr11:74716400-74722000	Strong transcription	Aorta	Aorta
43	chr11:74716400-74722000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:74716400-74722000	Strong transcription	Fetal Stomach	stomach
45	chr11:74716400-74722800	Strong transcription	Fetal Muscle Leg	muscle
46	chr11:74716400-74723600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr11:74716400-74723800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:74716400-74724000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:74716400-74724200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:74716400-74725600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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