Variant report

Variant	rs4910442
Chromosome Location	chr11:9044337-9044338
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	chr11:9041862..9044730-chr11:9157486..9160225,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175356	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10743093	0.81[CEU][hapmap]
rs10769967	0.81[CEU][hapmap]
rs10769970	0.81[CEU][hapmap]
rs10769973	0.81[CEU][hapmap]
rs10769979	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs10769980	0.85[EUR][1000 genomes]
rs10769981	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10840141	0.81[CEU][hapmap]
rs10840142	0.81[CEU][hapmap]
rs10840148	0.84[CEU][hapmap]
rs10840157	0.82[EUR][1000 genomes]
rs10840160	0.83[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11042103	0.81[CEU][hapmap]
rs11042151	0.91[CEU][hapmap]
rs11042152	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11042154	0.91[CEU][hapmap];0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1123936	0.84[CEU][hapmap]
rs1560569	0.91[CEU][hapmap]
rs1980428	0.84[CEU][hapmap]
rs1980429	0.80[CEU][hapmap]
rs1984791	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs2012696	0.82[EUR][1000 genomes]
rs2016942	0.91[CEU][hapmap]
rs2568043	0.81[CEU][hapmap]
rs2568045	0.84[CEU][hapmap]
rs2568061	0.84[CEU][hapmap]
rs2568065	0.84[CEU][hapmap]
rs2568090	0.84[CEU][hapmap]
rs2653605	0.84[CEU][hapmap]
rs2742471	0.84[EUR][1000 genomes]
rs2742474	0.83[EUR][1000 genomes]
rs2742480	0.81[CEU][hapmap]
rs4909952	0.88[CEU][hapmap]
rs6486060	0.95[CEU][hapmap]
rs7119939	0.84[CEU][hapmap]
rs7123429	0.81[CEU][hapmap]
rs7479407	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs7484180	0.81[EUR][1000 genomes]
rs7925728	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs7930026	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7937298	0.81[CEU][hapmap]
rs7945705	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	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
4	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4910442	AKIP1	cis	Thyroid	GTEx
rs4910442	TMEM9B-AS1	cis	Muscle Skeletal	GTEx
rs4910442	TMEM9B-AS1	cis	lung	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9035200-9051800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:9036600-9048400	Weak transcription	Pancreas	Pancrea
3	chr11:9037600-9045000	Weak transcription	Fetal Brain Male	brain
4	chr11:9038200-9045200	Weak transcription	HSMMtube	muscle
5	chr11:9038200-9064000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:9038600-9047000	Weak transcription	Brain Substantia Nigra	brain
7	chr11:9038800-9047400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:9039000-9052000	Weak transcription	Spleen	Spleen
9	chr11:9039000-9058800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr11:9039600-9048200	Weak transcription	Fetal Stomach	stomach
11	chr11:9039600-9049600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:9039600-9052000	Weak transcription	Lung	lung
13	chr11:9039600-9057800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:9039800-9047200	Weak transcription	NHDF-Ad	bronchial
15	chr11:9040000-9045400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:9040000-9047000	Weak transcription	Adipose Nuclei	Adipose
17	chr11:9041800-9046000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:9041800-9052400	Weak transcription	Gastric	stomach
19	chr11:9042000-9044800	Enhancers	Fetal Lung	lung
20	chr11:9042200-9048000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:9042400-9050200	Weak transcription	Colonic Mucosa	Colon
22	chr11:9042600-9046200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:9043400-9059200	Weak transcription	Right Atrium	heart
24	chr11:9043600-9046600	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:9043800-9045600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr11:9043800-9051800	Weak transcription	Left Ventricle	heart
27	chr11:9043800-9052400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:9044000-9044400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:9044000-9045400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:9044000-9045800	Weak transcription	Fetal Intestine Large	intestine
31	chr11:9044200-9044600	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:9044200-9044800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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