Variant report

Variant	rs11826750
Chromosome Location	chr11:10525919-10525920
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10514613..10516462-chr11:10525360..10527624,2	K562	blood:

Variant related genes	Relation type
ENSG00000133805	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1047730	0.91[ASN][1000 genomes]
rs10840430	0.83[ASN][1000 genomes]
rs11602469	0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11604691	0.90[ASN][1000 genomes]
rs11607008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12290357	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs2054390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4909938	0.91[ASN][1000 genomes]
rs4909940	0.90[ASN][1000 genomes]
rs4909941	0.83[ASN][1000 genomes]
rs4910149	1.00[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.90[ASN][1000 genomes]
rs4910150	1.00[CHB][hapmap];0.84[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap];0.91[ASN][1000 genomes]
rs7123581	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7128848	0.93[ASN][1000 genomes]
rs7131507	0.83[ASN][1000 genomes]
rs73411920	0.90[ASN][1000 genomes]
rs7929890	0.91[ASN][1000 genomes]
rs7936626	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.93[ASN][1000 genomes]
rs7938782	1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv972946	chr11:10523147-10534985	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11826750	RNF141	cis	Muscle Skeletal	GTEx
rs11826750	SNORA45	cis	cerebellum	SCAN

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10495000-10528000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr11:10495200-10530800	Strong transcription	Primary T cells from cord blood	blood
3	chr11:10495800-10529800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:10496600-10529000	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr11:10501600-10550600	Weak transcription	Small Intestine	intestine
6	chr11:10502600-10529000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:10502600-10560800	Weak transcription	Fetal Brain Male	brain
8	chr11:10507800-10544800	Weak transcription	Fetal Kidney	kidney
9	chr11:10510400-10528200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:10510600-10527800	Strong transcription	Thymus	Thymus
11	chr11:10510800-10528400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr11:10511000-10529600	Strong transcription	Fetal Thymus	thymus
13	chr11:10511000-10533200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr11:10512400-10526200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:10512400-10526800	Strong transcription	NHEK	skin
16	chr11:10512800-10526800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:10512800-10531600	Weak transcription	Stomach Mucosa	stomach
18	chr11:10512800-10540400	Weak transcription	Fetal Lung	lung
19	chr11:10512800-10548600	Weak transcription	Right Ventricle	heart
20	chr11:10513000-10526800	Weak transcription	HMEC	breast
21	chr11:10513000-10531800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:10513200-10526000	Weak transcription	Psoas Muscle	Psoas
23	chr11:10513200-10527600	Weak transcription	Right Atrium	heart
24	chr11:10513200-10538000	Weak transcription	Left Ventricle	heart
25	chr11:10513400-10536000	Weak transcription	A549	lung
26	chr11:10513800-10528200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:10514000-10527200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:10514200-10529600	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:10514400-10526000	Strong transcription	Brain Anterior Caudate	brain
30	chr11:10514600-10531400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:10514600-10535600	Weak transcription	HSMM	muscle
32	chr11:10514800-10528200	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:10515000-10527000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:10515000-10528200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:10515800-10540600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:10516000-10544000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:10517200-10531800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:10517400-10526000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr11:10517400-10526000	Weak transcription	Ovary	ovary
40	chr11:10520000-10543400	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:10520400-10531600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:10521400-10529000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:10522000-10526000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:10522200-10529600	Weak transcription	Fetal Heart	heart
45	chr11:10522200-10531600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:10522200-10531800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:10522200-10541200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:10522400-10526600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:10522400-10532400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:10522400-10535600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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