Variant report

Variant	rs11038863
Chromosome Location	chr11:46348324-46348325
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	chr11:46347230..46349225-chr11:46352449..46354877,2	K562	blood:

Variant related genes	Relation type
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2303435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4625425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.87[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61882671	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882672	1.00[ASN][1000 genomes]
rs61885566	0.93[ASN][1000 genomes]
rs6485676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7102330	0.86[ASN][1000 genomes]
rs7924718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9704813	0.81[ASN][1000 genomes]
rs9988792	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11038863	KRR1	trans	cerebellum	SCAN

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46330200-46349400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:46330600-46348800	Strong transcription	Fetal Stomach	stomach
3	chr11:46338800-46351400	Weak transcription	Fetal Heart	heart
4	chr11:46340600-46348400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:46340600-46349000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:46342000-46351000	Weak transcription	Primary T cells from cord blood	blood
7	chr11:46342200-46348600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:46342400-46352000	Weak transcription	Right Ventricle	heart
9	chr11:46342600-46348400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr11:46342600-46352200	Weak transcription	Ovary	ovary
11	chr11:46342600-46353200	Weak transcription	Spleen	Spleen
12	chr11:46343200-46353800	Weak transcription	Pancreas	Pancrea
13	chr11:46343400-46351200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:46343800-46349200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:46343800-46349400	Weak transcription	NHLF	lung
16	chr11:46344000-46351400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:46344000-46352000	Weak transcription	Left Ventricle	heart
18	chr11:46344000-46354000	Weak transcription	Gastric	stomach
19	chr11:46344200-46349000	Weak transcription	Osteobl	bone
20	chr11:46344200-46349600	Weak transcription	NHDF-Ad	bronchial
21	chr11:46344200-46351400	Weak transcription	HSMMtube	muscle
22	chr11:46344800-46349400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:46344800-46351000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr11:46344800-46351600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:46345000-46348400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:46345000-46348800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:46345000-46349400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:46345000-46349600	Weak transcription	NH-A	brain
29	chr11:46345000-46351400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:46345200-46349200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:46345200-46352000	Weak transcription	HSMM	muscle
32	chr11:46345200-46352200	Weak transcription	Adipose Nuclei	Adipose
33	chr11:46346000-46348600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:46346200-46349200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr11:46346200-46351000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr11:46346400-46348800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:46346600-46349200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:46347600-46351000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:46348000-46348400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:46348000-46349600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr11:46348200-46348400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr11:46348200-46348400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr11:46348200-46348400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr11:46348200-46348400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:46348200-46348600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr11:46348200-46348600	Enhancers	Brain Germinal Matrix	brain
47	chr11:46348200-46348800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:46348200-46349600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:46348200-46349800	Enhancers	Placenta	Placenta

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