Variant report

Variant	rs9943677
Chromosome Location	chr11:105955680-105955681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10895899	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10895904	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11226915	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11226922	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11226931	0.83[ASN][1000 genomes]
rs1893174	0.82[ASN][1000 genomes]
rs1939798	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1939799	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1940772	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2155340	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186731	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4237618	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4440991	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4485076	0.81[EUR][1000 genomes]
rs4565867	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4754141	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7130759	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7131047	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9943677	AASDHPPT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105949000-105973400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:105949200-105956800	Weak transcription	Aorta	Aorta
3	chr11:105949200-105962200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:105949200-105966000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:105949200-105967800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:105949200-105969800	Weak transcription	Lung	lung
7	chr11:105949200-105971600	Weak transcription	Esophagus	oesophagus
8	chr11:105949800-105956800	Weak transcription	Pancreas	Pancrea
9	chr11:105949800-105962200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:105949800-105962200	Weak transcription	Thymus	Thymus
11	chr11:105950200-105956400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:105950400-105957200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:105950400-105958000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:105950400-105971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:105950600-105957800	Weak transcription	Stomach Mucosa	stomach
16	chr11:105950600-105958000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:105950600-105969400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:105950800-105956200	Strong transcription	Fetal Thymus	thymus
19	chr11:105951200-105957800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:105951200-105962200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:105952000-105957000	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:105952000-105969400	Weak transcription	Colonic Mucosa	Colon
23	chr11:105952200-105956800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:105952200-105956800	Weak transcription	NHLF	lung
25	chr11:105952200-105957000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:105952200-105957400	Weak transcription	Psoas Muscle	Psoas
27	chr11:105952400-105956800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:105952400-105957600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:105952400-105957600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:105952400-105957600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:105952400-105958400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:105952400-105958400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr11:105953000-105957200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:105953000-105961800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr11:105953200-105956400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:105953200-105956600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:105953200-105957800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:105953200-105960400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:105953400-105956200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:105953400-105956400	Weak transcription	Brain Hippocampus Middle	brain
41	chr11:105953400-105956800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:105953400-105957000	Weak transcription	Small Intestine	intestine
43	chr11:105953400-105957200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:105953400-105957600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:105953400-105962000	Weak transcription	Placenta	Placenta
46	chr11:105953400-105962200	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr11:105953400-105962400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:105953400-105962400	Weak transcription	Ovary	ovary
49	chr11:105953400-105962400	Weak transcription	Right Ventricle	heart
50	chr11:105953400-105965600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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