Variant report

Variant	rs7947878
Chromosome Location	chr11:47028531-47028532
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	chr11:47026518..47028545-chr11:47034520..47036509,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10466478	0.82[ASN][1000 genomes]
rs1060573	0.82[ASN][1000 genomes]
rs10769230	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10769233	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10769234	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10769239	0.84[ASN][1000 genomes]
rs10838654	0.87[ASN][1000 genomes]
rs10838659	0.82[ASN][1000 genomes]
rs10838660	0.82[ASN][1000 genomes]
rs11039074	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11039086	0.84[ASN][1000 genomes]
rs11039097	0.85[ASN][1000 genomes]
rs11039105	0.82[ASN][1000 genomes]
rs11039107	0.82[ASN][1000 genomes]
rs11039112	0.82[ASN][1000 genomes]
rs11039119	0.81[ASN][1000 genomes]
rs11600668	0.81[ASN][1000 genomes]
rs12224096	0.82[ASN][1000 genomes]
rs12796744	0.85[ASN][1000 genomes]
rs1872896	0.82[ASN][1000 genomes]
rs1965952	0.82[ASN][1000 genomes]
rs2018527	0.82[ASN][1000 genomes]
rs4319472	0.85[ASN][1000 genomes]
rs4579897	0.85[ASN][1000 genomes]
rs4752952	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4752957	0.85[ASN][1000 genomes]
rs4752962	0.83[ASN][1000 genomes]
rs4752967	0.82[ASN][1000 genomes]
rs57323109	0.81[ASN][1000 genomes]
rs6485721	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6485722	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6485739	0.83[ASN][1000 genomes]
rs7103581	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7108427	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7108902	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7118546	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7121418	0.82[ASN][1000 genomes]
rs7125807	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7128325	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs747650	0.82[ASN][1000 genomes]
rs7479189	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7937950	0.87[ASN][1000 genomes]
rs7942473	0.85[ASN][1000 genomes]
rs7945315	0.85[ASN][1000 genomes]
rs7946709	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1805201	chr11:46971012-47063429	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1819852	chr11:46971012-47064542	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7947878	CTD-2384B9.1	cis	Nerve Tibial	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47003400-47032800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:47021000-47028600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:47023600-47030200	Enhancers	Colon Smooth Muscle	Colon
4	chr11:47026000-47029400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:47026000-47035600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:47026600-47030600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:47026600-47036800	Weak transcription	Primary B cells from cord blood	blood
8	chr11:47026600-47042200	Weak transcription	Small Intestine	intestine
9	chr11:47026800-47041000	Weak transcription	Hela-S3	cervix
10	chr11:47026800-47080200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:47027000-47040000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:47027200-47028600	Enhancers	K562	blood
13	chr11:47027200-47031200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:47027200-47031800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:47027200-47034600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr11:47027200-47042000	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:47027400-47039600	Weak transcription	Osteobl	bone
18	chr11:47027400-47056000	Weak transcription	Fetal Intestine Small	intestine
19	chr11:47027600-47029200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:47027800-47048000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:47028200-47031600	Weak transcription	Fetal Lung	lung
22	chr11:47028400-47028600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:47028400-47028800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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