Variant report

Variant	rs11823158
Chromosome Location	chr11:4105549-4105550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:4105213-4106531	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4104981..4106957-chr11:4107395..4110293,2	K562	blood:

Variant related genes	Relation type
STIM1	TF binding region
ENSG00000167323	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11821399	0.85[AMR][1000 genomes]
rs11827535	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827750	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11827795	0.85[AMR][1000 genomes]
rs2167562	0.85[AMR][1000 genomes]
rs2412336	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57282641	0.85[AMR][1000 genomes]
rs57365434	0.85[AMR][1000 genomes]
rs58151848	0.85[AMR][1000 genomes]
rs58461583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59108256	0.85[AMR][1000 genomes]
rs59178256	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59580400	0.85[AMR][1000 genomes]
rs59842937	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59973839	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60110100	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60462758	0.85[AMR][1000 genomes]
rs61225070	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61355819	0.85[AMR][1000 genomes]
rs61589687	0.82[AFR][1000 genomes]
rs6578420	0.85[AMR][1000 genomes]
rs6578435	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7109227	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7114373	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7117657	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7122796	0.85[AMR][1000 genomes]
rs7123124	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7128522	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72555753	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7924332	0.85[AMR][1000 genomes]
rs7926343	0.85[AMR][1000 genomes]
rs7931280	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7938706	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7938862	0.85[AMR][1000 genomes]
rs7939086	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7939090	0.85[AMR][1000 genomes]
rs7940292	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7940511	0.85[AMR][1000 genomes]
rs7942028	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7942271	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7943217	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7949898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs894456	0.82[AFR][1000 genomes];0.85[AMR][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	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4066400-4107800	Weak transcription	Small Intestine	intestine
2	chr11:4070800-4108600	Weak transcription	HSMM	muscle
3	chr11:4079000-4112600	Weak transcription	Fetal Brain Female	brain
4	chr11:4082600-4107400	Weak transcription	Stomach Mucosa	stomach
5	chr11:4086200-4115200	Weak transcription	NHDF-Ad	bronchial
6	chr11:4087600-4115000	Weak transcription	HSMMtube	muscle
7	chr11:4087800-4107800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:4088600-4107800	Weak transcription	Right Ventricle	heart
9	chr11:4091600-4107600	Weak transcription	Psoas Muscle	Psoas
10	chr11:4093600-4112600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:4093800-4115000	Weak transcription	Brain Germinal Matrix	brain
12	chr11:4093800-4115200	Weak transcription	Fetal Kidney	kidney
13	chr11:4094000-4106200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:4094000-4107800	Weak transcription	Brain Angular Gyrus	brain
15	chr11:4094000-4108600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:4094000-4108600	Weak transcription	Osteobl	bone
17	chr11:4094000-4115000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:4094000-4115000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:4094000-4115200	Weak transcription	Brain Substantia Nigra	brain
20	chr11:4095800-4109400	Weak transcription	K562	blood
21	chr11:4096000-4107600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:4098200-4115000	Weak transcription	Hela-S3	cervix
23	chr11:4099400-4107800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:4099400-4111200	Strong transcription	Fetal Thymus	thymus
25	chr11:4100200-4115200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr11:4100400-4110400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:4100600-4106600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:4100600-4115200	Weak transcription	NHLF	lung
29	chr11:4101000-4107400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:4101000-4110600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:4101400-4106200	Strong transcription	GM12878-XiMat	blood
32	chr11:4101400-4108000	Strong transcription	Primary T cells from cord blood	blood
33	chr11:4101400-4112800	Strong transcription	Thymus	Thymus
34	chr11:4101400-4113600	Strong transcription	Primary B cells from cord blood	blood
35	chr11:4101400-4114000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:4101400-4114200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:4101600-4106000	Strong transcription	HepG2	liver
38	chr11:4101600-4107000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:4101600-4113200	Strong transcription	Dnd41	blood
40	chr11:4101600-4113800	Strong transcription	Adipose Nuclei	Adipose
41	chr11:4101800-4106000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr11:4101800-4106000	Strong transcription	Aorta	Aorta
43	chr11:4101800-4106200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:4101800-4106200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:4101800-4106400	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:4101800-4108000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:4101800-4108400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:4101800-4112000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr11:4101800-4113400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:4101800-4114000	Strong transcription	Fetal Stomach	stomach

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