Variant report

Variant	rs10835359
Chromosome Location	chr11:3971547-3971548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3963150..3965730-chr11:3971154..3972718,2	K562	blood:
2	chr11:3966514..3968687-chr11:3969725..3973118,3	K562	blood:
3	chr11:3952774..3955430-chr11:3970846..3973149,2	K562	blood:

Variant related genes	Relation type
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1013351	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10500590	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10742200	0.86[EUR][1000 genomes]
rs10767702	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10767713	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10767715	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10767767	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10835311	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835312	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835331	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835337	0.86[EUR][1000 genomes]
rs10835340	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835390	0.87[EUR][1000 genomes]
rs10835399	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835402	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835403	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835406	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835407	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835454	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10835474	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10835508	0.87[EUR][1000 genomes]
rs10835556	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10835557	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10835596	0.84[EUR][1000 genomes]
rs10835597	0.84[EUR][1000 genomes]
rs10835601	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11030276	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11030404	0.87[EUR][1000 genomes]
rs11030579	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11030599	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11030627	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11030631	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11030639	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11030660	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11493482	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11828337	0.87[EUR][1000 genomes]
rs12223176	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12281293	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12283447	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12286710	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12290747	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12295138	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1349583	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442726	0.84[EUR][1000 genomes]
rs1452047	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1452048	0.87[EUR][1000 genomes]
rs17081	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17279635	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1839910	0.87[EUR][1000 genomes]
rs2119987	0.81[EUR][1000 genomes]
rs2412338	0.88[EUR][1000 genomes]
rs2898947	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910590	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910596	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4910597	0.84[EUR][1000 genomes]
rs4910598	0.83[EUR][1000 genomes]
rs4910866	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910868	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910869	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910875	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6578424	0.88[EUR][1000 genomes]
rs66503725	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66596383	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67065286	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67300156	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7102215	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7113845	0.86[EUR][1000 genomes]
rs7128762	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs714380	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71466139	0.83[ASN][1000 genomes]
rs720571	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924984	0.88[EUR][1000 genomes]
rs7925954	0.83[EUR][1000 genomes]
rs7935824	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7950153	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs995498	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv869701	chr11:3879297-3973762	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	nsv896895	chr11:3942001-3972236	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10835359	STIM1	cis	lung	GTEx
rs10835359	RRM1	cis	Artery Tibial	GTEx
rs10835359	RRM1	cis	Thyroid	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3950400-3972200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:3961200-4002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:3961600-3975200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:3962000-3971800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:3962000-3973400	Weak transcription	Ovary	ovary
6	chr11:3963000-3973200	Enhancers	Primary B cells from peripheral blood	blood
7	chr11:3964400-3971600	Weak transcription	A549	lung
8	chr11:3964400-3972000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:3964400-3972400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:3965800-3972000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:3966000-3972200	Weak transcription	Pancreas	Pancrea
12	chr11:3967000-3972600	Weak transcription	Fetal Intestine Small	intestine
13	chr11:3968000-3972200	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:3968200-3972000	Weak transcription	Stomach Mucosa	stomach
15	chr11:3968200-3974600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:3968200-3980200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:3968600-3971800	Weak transcription	Osteobl	bone
18	chr11:3968600-3972200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:3968600-3972200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:3968600-3972200	Weak transcription	Brain Angular Gyrus	brain
21	chr11:3968800-3972000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:3968800-3974600	Weak transcription	HMEC	breast
23	chr11:3969000-3971600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:3969000-3971800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:3969000-3971800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:3969000-3971800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:3969000-3972000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:3969000-3972200	Weak transcription	Right Atrium	heart
29	chr11:3969000-3972400	Weak transcription	Placenta	Placenta
30	chr11:3969000-3973200	Enhancers	Primary B cells from cord blood	blood
31	chr11:3969000-3974000	Weak transcription	Gastric	stomach
32	chr11:3969000-3974200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:3969000-3974600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr11:3969000-3975400	Weak transcription	NHDF-Ad	bronchial
35	chr11:3969000-3980400	Weak transcription	NHLF	lung
36	chr11:3969200-3971800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:3969200-3972000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:3969200-3972000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:3969200-3972000	Weak transcription	Fetal Stomach	stomach
40	chr11:3969200-3972200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:3969400-3971800	Weak transcription	Brain Anterior Caudate	brain
42	chr11:3969400-3971800	Weak transcription	Left Ventricle	heart
43	chr11:3969400-3971800	Weak transcription	Right Ventricle	heart
44	chr11:3969400-3972000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:3969400-3972000	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:3969400-3972000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:3969400-3972200	Weak transcription	Adipose Nuclei	Adipose
48	chr11:3969400-3972200	Weak transcription	Lung	lung
49	chr11:3969400-3972200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:3969400-3972400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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