Variant report

Variant	rs10769933
Chromosome Location	chr11:8637926-8637927
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8635996..8638733-chr11:8639792..8642248,2	K562	blood:

Variant related genes	Relation type
ENSG00000166436	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10734634	0.99[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10743083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743085	0.94[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.96[ASN][1000 genomes]
rs10769934	0.91[ASN][1000 genomes]
rs10769937	0.96[ASN][1000 genomes]
rs10840096	0.92[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.81[MKK][hapmap];0.90[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11041966	0.84[CHD][hapmap]
rs11042014	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11042026	0.91[ASN][1000 genomes]
rs11042028	0.86[ASN][1000 genomes]
rs1128559	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62622852	1.00[ASN][1000 genomes]
rs7934978	0.93[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs7941744	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7950801	0.80[YRI][hapmap]
rs9633894	0.94[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.84[MKK][hapmap];0.95[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	esv2751035	chr11:8431654-8685451	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv896983	chr11:8526643-8682465	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs10769933	UBQLN3	cis	parietal	SCAN
rs10769933	PPFIBP2	cis	parietal	SCAN
rs10769933	LMO1	cis	parietal	SCAN
rs10769933	OR51V1	cis	cerebellum	SCAN
rs10769933	STK33	cis	cerebellum	SCAN
rs10769933	PPFIBP2	cis	cerebellum	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8626000-8661600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:8626000-8661800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:8626200-8653000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:8626400-8638400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:8626400-8638400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:8626400-8643400	Weak transcription	Fetal Lung	lung
7	chr11:8626600-8639600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:8626600-8648800	Weak transcription	Stomach Mucosa	stomach
9	chr11:8626800-8659600	Weak transcription	Hela-S3	cervix
10	chr11:8627800-8642400	Weak transcription	A549	lung
11	chr11:8629200-8638000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:8630200-8642400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:8630600-8653000	Weak transcription	Osteobl	bone
14	chr11:8630800-8638000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:8630800-8638400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:8630800-8645400	Weak transcription	NHLF	lung
17	chr11:8630800-8645600	Weak transcription	NH-A	brain
18	chr11:8630800-8645800	Weak transcription	NHDF-Ad	bronchial
19	chr11:8631000-8644000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:8632000-8641600	Weak transcription	Brain Angular Gyrus	brain
21	chr11:8632200-8639000	Weak transcription	Fetal Thymus	thymus
22	chr11:8632400-8644800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:8632600-8638000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:8632600-8644600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:8632800-8643600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:8632800-8644200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:8632800-8659000	Weak transcription	Colon Smooth Muscle	Colon
28	chr11:8632800-8663800	Weak transcription	Fetal Kidney	kidney
29	chr11:8633000-8638200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:8633000-8640000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:8633000-8641600	Weak transcription	Fetal Heart	heart
32	chr11:8633000-8642200	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:8634000-8646800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:8634200-8647200	Strong transcription	Liver	Liver
35	chr11:8634400-8638000	Weak transcription	Left Ventricle	heart
36	chr11:8634600-8642400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:8634600-8644000	Weak transcription	Brain Substantia Nigra	brain
38	chr11:8634600-8645600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:8634600-8661600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:8634600-8661800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:8634800-8638800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:8634800-8644000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:8634800-8657600	Weak transcription	Psoas Muscle	Psoas
44	chr11:8635200-8642800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:8635200-8645400	Weak transcription	HUVEC	blood vessel
46	chr11:8635400-8644000	Weak transcription	HSMM	muscle
47	chr11:8635400-8646800	Weak transcription	Fetal Brain Male	brain
48	chr11:8635400-8647000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:8635400-8661400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:8635600-8638000	Weak transcription	Placenta Amnion	Placenta Amnion

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