Variant report

Variant	rs2568020
Chromosome Location	chr11:8994715-8994716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8985985..8989879-chr11:8990022..8995135,9	K562	blood:
2	chr11:8708369..8710243-chr11:8992642..8995400,2	K562	blood:
3	chr11:8992414..8994914-chr11:9017191..9020958,3	K562	blood:
4	chr11:8989184..8992438-chr11:8993740..8997240,3	MCF-7	breast:
5	chr11:8984840..8989436-chr11:8990874..8994927,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175348	Chromatin interaction
ENSG00000254860	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10769979	0.98[ASN][1000 genomes]
rs10769980	0.98[ASN][1000 genomes]
rs10769981	0.84[ASN][1000 genomes]
rs10840157	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840158	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042149	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11042150	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042152	0.98[ASN][1000 genomes]
rs11042154	0.89[ASN][1000 genomes]
rs1109305	0.82[ASN][1000 genomes]
rs1123936	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1980428	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1980429	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1984791	0.85[ASN][1000 genomes]
rs2012680	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2012690	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2012696	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2568045	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2653570	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2653605	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742470	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2742471	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742474	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2742480	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742537	0.81[EUR][1000 genomes]
rs2742540	0.81[EUR][1000 genomes]
rs4909952	0.82[ASN][1000 genomes]
rs4910156	0.80[ASN][1000 genomes]
rs4910157	0.86[EUR][1000 genomes]
rs4910200	0.86[ASN][1000 genomes]
rs4929922	0.89[ASN][1000 genomes]
rs7118463	0.82[EUR][1000 genomes]
rs7479407	0.96[ASN][1000 genomes]
rs7482838	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7484180	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7925728	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7930026	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	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
6	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

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs2568020	TMEM9B-AS1	cis	Esophagus Muscularis	GTEx
rs2568020	TMEM9B-AS1	cis	Artery Tibial	GTEx
rs2568020	TMEM9B-AS1	cis	lung	GTEx
rs2568020	TMEM9B-AS1	cis	Stomach	GTEx
rs2568020	TMEM9B-AS1	cis	Thyroid	GTEx
rs2568020	TMEM9B-AS1	cis	Muscle Skeletal	GTEx
rs2568020	TMEM9B-AS1	cis	Artery Aorta	GTEx
rs2568020	TMEM9B-AS1	cis	Esophagus Mucosa	GTEx
rs2568020	TMEM9B-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8986800-8995000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:8986800-8996600	Weak transcription	Spleen	Spleen
3	chr11:8987000-8994800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:8987000-8995000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:8987000-9007200	Weak transcription	Brain Germinal Matrix	brain
6	chr11:8987000-9007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:8987000-9010200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:8987000-9011000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:8987600-9005000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:8987600-9006400	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:8987600-9010000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:8987600-9010000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:8987800-8999000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:8987800-9005000	Weak transcription	Brain Angular Gyrus	brain
15	chr11:8987800-9010200	Weak transcription	NHDF-Ad	bronchial
16	chr11:8987800-9012000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:8989200-8999000	Weak transcription	Fetal Intestine Small	intestine
18	chr11:8989600-8997000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:8989600-8997400	Weak transcription	Primary T cells from cord blood	blood
20	chr11:8989600-9001400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr11:8989600-9002400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:8989600-9003400	Weak transcription	Fetal Stomach	stomach
23	chr11:8989600-9010000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:8989600-9011200	Weak transcription	Brain Anterior Caudate	brain
25	chr11:8989600-9019600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:8991800-9015600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:8992400-8999200	Weak transcription	Placenta	Placenta
28	chr11:8993200-8995000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:8994000-9008600	Weak transcription	K562	blood
30	chr11:8994600-8994800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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