Variant report

Variant	rs11030580
Chromosome Location	chr11:4022582-4022583
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10767811	0.82[ASN][1000 genomes]
rs10835508	0.82[ASN][1000 genomes]
rs10835521	0.82[ASN][1000 genomes]
rs10835556	0.82[ASN][1000 genomes]
rs10835557	0.82[ASN][1000 genomes]
rs10835561	0.85[ASN][1000 genomes]
rs10835596	0.85[ASN][1000 genomes]
rs10835597	0.85[ASN][1000 genomes]
rs10835601	0.85[ASN][1000 genomes]
rs10835604	0.85[ASN][1000 genomes]
rs11030579	0.86[ASN][1000 genomes]
rs11030631	0.82[ASN][1000 genomes]
rs11030639	0.82[ASN][1000 genomes]
rs11030660	0.82[ASN][1000 genomes]
rs11030781	0.82[ASN][1000 genomes]
rs1442726	0.85[ASN][1000 genomes]
rs2119987	0.83[ASN][1000 genomes]
rs28419002	0.82[ASN][1000 genomes]
rs4910596	0.85[ASN][1000 genomes]
rs4910597	0.85[ASN][1000 genomes]
rs4910598	0.85[ASN][1000 genomes]
rs4910875	0.82[ASN][1000 genomes]
rs4910877	0.83[ASN][1000 genomes]
rs4910880	0.85[ASN][1000 genomes]
rs67065286	0.85[ASN][1000 genomes]
rs714380	0.83[ASN][1000 genomes]
rs7935824	0.82[ASN][1000 genomes]
rs963998	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1042719	chr11:4017541-4101609	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11030580	RRM1	cis	Artery Tibial	GTEx
rs11030580	STIM1	cis	Thyroid	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3989400-4031000	Weak transcription	Aorta	Aorta
2	chr11:4006800-4022600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:4011800-4027600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:4017400-4041400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:4017600-4043400	Weak transcription	Primary B cells from cord blood	blood
6	chr11:4018000-4023000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:4018200-4027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:4018200-4027200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:4018400-4027000	Weak transcription	Primary T cells from cord blood	blood
10	chr11:4018800-4027200	Weak transcription	Psoas Muscle	Psoas
11	chr11:4019400-4027000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr11:4020600-4027000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:4020800-4027600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:4020800-4037600	Weak transcription	Pancreas	Pancrea
15	chr11:4020800-4045000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:4021000-4032200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:4021000-4043600	Weak transcription	Thymus	Thymus
18	chr11:4021000-4044200	Weak transcription	Fetal Thymus	thymus
19	chr11:4021000-4044400	Weak transcription	Dnd41	blood

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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