Variant report

Variant	rs868132
Chromosome Location	chr11:9268899-9268900
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	PAX5	chr11:9268718-9268933	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:9268837-9269331	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9267716..9269230-chr11:9274364..9276054,2	K562	blood:
2	chr11:9268041..9270644-chr17:74730445..74732897,2	MCF-7	breast:
3	chr11:9267583..9270132-chr11:9274385..9279675,6	K562	blood:

Variant related genes	Relation type
ENSG00000255097	TF binding region
ENSG00000207556	Chromatin interaction
ENSG00000161547	Chromatin interaction
ENSG00000092931	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11042237	0.94[AFR][1000 genomes]
rs11042239	0.80[AFR][1000 genomes]
rs12270071	0.95[AFR][1000 genomes]
rs12272299	0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs13353070	0.97[AFR][1000 genomes]
rs13377440	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7127063	1.00[ASW][hapmap];0.85[LWK][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs7932912	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7936147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7936622	0.81[YRI][hapmap]
rs7943406	0.88[AFR][1000 genomes]
rs9804536	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9251000-9271600	Weak transcription	Hela-S3	cervix
2	chr11:9251000-9274400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:9251400-9271800	Weak transcription	Gastric	stomach
4	chr11:9252600-9272400	Weak transcription	Spleen	Spleen
5	chr11:9252600-9272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:9253200-9269600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:9253200-9274600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:9253800-9271400	Weak transcription	HSMM	muscle
10	chr11:9254400-9271600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:9254400-9271800	Weak transcription	Osteobl	bone
12	chr11:9254400-9272400	Weak transcription	Ovary	ovary
13	chr11:9254400-9274600	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:9254400-9280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:9255200-9271800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:9255400-9269600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:9256600-9274400	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:9257000-9276000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:9257000-9284800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:9257200-9285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:9257600-9276800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:9259200-9271600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:9261800-9285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:9262200-9271400	Weak transcription	Left Ventricle	heart
25	chr11:9262200-9274600	Weak transcription	Fetal Stomach	stomach
26	chr11:9262400-9282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:9262800-9271600	Weak transcription	Fetal Heart	heart
28	chr11:9262800-9271800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:9263000-9274600	Weak transcription	Psoas Muscle	Psoas
30	chr11:9263200-9269400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:9263600-9271800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:9264000-9269600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:9264000-9271600	Weak transcription	Small Intestine	intestine
34	chr11:9264000-9276800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:9264000-9283400	Weak transcription	Fetal Lung	lung
36	chr11:9264000-9284600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:9264200-9271400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:9264200-9271600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:9264200-9271600	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:9264200-9271800	Weak transcription	NHDF-Ad	bronchial
41	chr11:9264200-9285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:9264400-9271800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:9264400-9271800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:9264400-9271800	Weak transcription	Brain Angular Gyrus	brain
45	chr11:9264400-9274600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:9264600-9270800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:9265000-9271800	Weak transcription	A549	lung
48	chr11:9265200-9271800	Weak transcription	Adipose Nuclei	Adipose
49	chr11:9265200-9272400	Weak transcription	Right Atrium	heart
50	chr11:9265200-9279400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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