Variant report

Variant	rs11983847
Chromosome Location	chr7:128060796-128060797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:128058762..128061562-chr7:128063088..128065048,2	K562	blood:
2	chr7:128048177..128050685-chr7:128059766..128063238,3	MCF-7	breast:
3	chr7:128055955..128059453-chr7:128060667..128062980,3	K562	blood:
4	chr7:128042298..128048334-chr7:128059762..128065417,7	K562	blood:
5	chr7:128056824..128058697-chr7:128060667..128062977,2	K562	blood:
6	chr7:127993560..127996179-chr7:128060265..128062601,2	K562	blood:
7	chr7:128060108..128063097-chr7:128063704..128066560,3	K562	blood:
8	chr7:128045250..128046936-chr7:128059338..128061388,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106348	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10954184	0.89[ASN][1000 genomes]
rs11765126	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11773251	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11973781	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977296	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11981766	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11982673	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12536006	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12706850	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706851	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13221784	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222212	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13227646	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13242340	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13312278	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2076805	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2228075	0.93[ASN][1000 genomes]
rs2278294	0.80[EUR][1000 genomes]
rs34848853	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35649907	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6975115	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7802305	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[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	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11983847	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs11983847	IMPDH1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128050800-128062200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
3	chr7:128055800-128063800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:128056000-128062800	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:128059000-128063200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:128059400-128061800	Weak transcription	Fetal Brain Male	brain
7	chr7:128059800-128062400	Weak transcription	Fetal Brain Female	brain
8	chr7:128060200-128062200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:128060400-128061800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr7:128060400-128065000	Enhancers	Fetal Muscle Leg	muscle
11	chr7:128060600-128061200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:128060600-128061800	Enhancers	Fetal Intestine Large	intestine
13	chr7:128060600-128061800	Enhancers	Placenta	Placenta
14	chr7:128060600-128061800	Enhancers	Ovary	ovary
15	chr7:128060600-128063600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr7:128060600-128064800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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