Variant report

Variant	rs10769988
Chromosome Location	chr11:9071175-9071176
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	chr11:9069483..9071598-chr11:9076073..9078809,2	K562	blood:
2	chr11:9070098..9074605-chr11:9077166..9080417,4	K562	blood:

Variant related genes	Relation type
ENSG00000253973	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs3763904	0.92[MKK][hapmap]
rs7124953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7126825	0.81[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.88[MKK][hapmap];0.94[ASN][1000 genomes]
rs7127387	0.90[GIH][hapmap]
rs7396115	0.87[CEU][hapmap];0.90[GIH][hapmap]

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	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
5	nsv467704	chr11:9059192-9125301	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv553454	chr11:9059192-9125301	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs10769988	RRP8	cis	cerebellum	SCAN
rs10769988	C11orf17	Cis_1M	lymphoblastoid	RTeQTL
rs10769988	LMO1	cis	cerebellum	SCAN
rs10769988	RPL27A	cis	parietal	SCAN
rs10769988	TMEM9B	cis	cerebellum	SCAN
rs10769988	SWAP70	cis	cerebellum	SCAN
rs10769988	TMEM9B	cis	parietal	SCAN
rs10769988	TRIM6-TRIM34	cis	cerebellum	SCAN
rs10769988	PRKCDBP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9058400-9099800	Weak transcription	Aorta	Aorta
2	chr11:9059200-9074000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:9065600-9073400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:9066000-9081800	Weak transcription	Small Intestine	intestine
5	chr11:9066800-9071200	Enhancers	Fetal Stomach	stomach
6	chr11:9067600-9072200	Enhancers	Fetal Muscle Leg	muscle
7	chr11:9067800-9071200	Enhancers	Rectal Smooth Muscle	rectum
8	chr11:9069000-9080400	Weak transcription	Fetal Intestine Large	intestine
9	chr11:9069000-9092400	Weak transcription	Fetal Intestine Small	intestine
10	chr11:9069200-9074600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:9069200-9083800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:9069600-9072000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:9069800-9071200	Enhancers	Colon Smooth Muscle	Colon
14	chr11:9070200-9078600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:9070200-9087400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:9070200-9097200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:9070400-9071200	Enhancers	Stomach Smooth Muscle	stomach
18	chr11:9070400-9071400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr11:9070400-9072200	Enhancers	Fetal Lung	lung
20	chr11:9070400-9074000	Weak transcription	Pancreas	Pancrea
21	chr11:9070400-9075200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:9070400-9077600	Weak transcription	Adipose Nuclei	Adipose
23	chr11:9070400-9078000	Weak transcription	Gastric	stomach
24	chr11:9070400-9098400	Weak transcription	Colonic Mucosa	Colon
25	chr11:9070600-9071200	Enhancers	Placenta	Placenta
26	chr11:9070600-9075000	Weak transcription	NHDF-Ad	bronchial
27	chr11:9070600-9077400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:9070600-9087800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:9070600-9091600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:9070800-9071200	Enhancers	Fetal Brain Male	brain

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