Variant report

Variant	rs10835324
Chromosome Location	chr11:3954928-3954929
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:3952774..3955430-chr11:3970846..3973149,2	K562	blood:
2	chr11:3945769..3947956-chr11:3954532..3958241,3	K562	blood:
3	chr11:3953433..3955295-chr11:3966912..3968910,2	K562	blood:

Variant related genes	Relation type
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1013351	0.81[EUR][1000 genomes]
rs10500590	0.81[EUR][1000 genomes]
rs10742200	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10767702	0.81[EUR][1000 genomes]
rs10767713	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10767715	0.81[EUR][1000 genomes]
rs10767720	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10767721	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10835291	0.81[ASN][1000 genomes]
rs10835311	0.81[EUR][1000 genomes]
rs10835320	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835331	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10835333	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835337	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10835340	0.82[EUR][1000 genomes]
rs10835390	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11030276	0.81[EUR][1000 genomes]
rs11030404	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11828337	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12270732	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281293	0.81[EUR][1000 genomes]
rs12286710	0.81[EUR][1000 genomes]
rs12290747	0.81[EUR][1000 genomes]
rs1452048	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1839910	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2412338	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4910865	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910866	0.81[EUR][1000 genomes]
rs6578424	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66596383	0.81[EUR][1000 genomes]
rs67300156	0.82[EUR][1000 genomes]
rs7102215	0.81[EUR][1000 genomes]
rs7113845	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7128762	0.81[EUR][1000 genomes]
rs750525	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924984	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7925954	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7950153	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs995498	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1043039	chr11:3903226-3955159	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	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
rs10835324	RRM1	cis	Artery Tibial	GTEx
rs10835324	STIM1	cis	lung	GTEx
rs10835324	RRM1	cis	Thyroid	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3938400-3956400	Weak transcription	Dnd41	blood
2	chr11:3939000-3956000	Weak transcription	Esophagus	oesophagus
3	chr11:3948200-3955800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:3948200-3955800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:3948400-3960400	Weak transcription	NHEK	skin
6	chr11:3948600-3955600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:3948800-3960800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:3949000-3961400	Weak transcription	Right Atrium	heart
9	chr11:3949400-3959400	Weak transcription	Fetal Lung	lung
10	chr11:3950000-3957600	Weak transcription	GM12878-XiMat	blood
11	chr11:3950400-3972200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:3950800-3956200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:3951000-3955600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:3951000-3957400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr11:3951000-3960600	Weak transcription	Stomach Mucosa	stomach
16	chr11:3951200-3965400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:3951200-3967600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:3951400-3955000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:3951400-3955600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:3951400-3955800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:3951400-3955800	Weak transcription	Fetal Stomach	stomach
22	chr11:3951400-3956000	Weak transcription	Aorta	Aorta
23	chr11:3951400-3956000	Weak transcription	Gastric	stomach
24	chr11:3951400-3956400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:3951400-3959000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:3951400-3959200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:3951400-3959800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:3951400-3961400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:3951400-3963400	Weak transcription	A549	lung
30	chr11:3951400-3963600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:3951600-3955400	Weak transcription	Right Ventricle	heart
32	chr11:3951600-3959800	Weak transcription	Adipose Nuclei	Adipose
33	chr11:3951600-3963400	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:3951800-3956000	Weak transcription	Left Ventricle	heart
35	chr11:3951800-3959600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:3952000-3955400	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:3952000-3955600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:3952000-3963400	Weak transcription	Pancreas	Pancrea
39	chr11:3952200-3955000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr11:3952200-3961000	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:3952400-3955000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:3952800-3955600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:3953200-3955600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:3953200-3956800	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr11:3953200-3957400	Weak transcription	Ovary	ovary
46	chr11:3953400-3957600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:3953600-3955000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:3953600-3956000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:3954000-3955800	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr11:3954000-3955800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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