Variant report

Variant	rs11229833
Chromosome Location	chr11:58897184-58897185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:58896273..58898836-chr11:58901279..58902925,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11229803	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4409856	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4445654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs517845	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs567951	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs588952	0.85[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7110278	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7121654	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7950640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2758272	chr11:58700092-59008673	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2759830	chr11:58700092-59008673	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv2757447	chr11:58746238-58906018	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv975329	chr11:58767290-58907813	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv430388	chr11:58769524-58925824	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv468578	chr11:58790628-58901763	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv555147	chr11:58790628-58901763	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv975190	chr11:58893580-58903375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11229833	SLC15A3	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58875200-58909600	Weak transcription	Stomach Mucosa	stomach
2	chr11:58875400-58909600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:58881600-58903600	Weak transcription	Hela-S3	cervix
4	chr11:58886000-58898800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:58886600-58898600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:58886800-58898400	Weak transcription	Osteobl	bone
7	chr11:58886800-58898800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:58886800-58901200	Weak transcription	NHLF	lung
9	chr11:58886800-58903400	Weak transcription	NHEK	skin
10	chr11:58887000-58899000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:58887000-58899000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:58888400-58899400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:58891400-58899200	Weak transcription	Left Ventricle	heart
14	chr11:58892200-58899200	Weak transcription	Small Intestine	intestine
15	chr11:58892800-58898000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:58893200-58899000	Weak transcription	Thymus	Thymus
17	chr11:58893400-58897600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:58893400-58898000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:58893600-58898800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:58893600-58898800	Weak transcription	Fetal Thymus	thymus
21	chr11:58893600-58899000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:58893600-58899000	Weak transcription	Fetal Intestine Large	intestine
23	chr11:58893600-58902200	Weak transcription	HSMM	muscle
24	chr11:58893800-58898000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:58893800-58898800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:58893800-58901800	Weak transcription	NHDF-Ad	bronchial
27	chr11:58893800-58903400	Weak transcription	HUVEC	blood vessel
28	chr11:58893800-58909600	Weak transcription	Fetal Brain Male	brain
29	chr11:58894000-58899200	Weak transcription	Adipose Nuclei	Adipose
30	chr11:58894200-58897200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:58894400-58897400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:58894400-58898800	Weak transcription	HMEC	breast
33	chr11:58894400-58899000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:58894600-58898800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:58894800-58897800	Weak transcription	Ovary	ovary
36	chr11:58894800-58898800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:58894800-58898800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:58894800-58899000	Weak transcription	Lung	lung
39	chr11:58895000-58898600	Weak transcription	Fetal Lung	lung
40	chr11:58895400-58897800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:58895800-58897200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr11:58895800-58897600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:58895800-58903400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:58896000-58898200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:58896000-58898200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:58896000-58899400	Weak transcription	Aorta	Aorta
47	chr11:58896200-58898000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:58896200-58898400	Weak transcription	Liver	Liver
49	chr11:58896200-58899000	Weak transcription	Colonic Mucosa	Colon
50	chr11:58896200-58903200	Strong transcription	Primary T cells from cord blood	blood

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