Variant report

Variant	rs11188393
Chromosome Location	chr10:97364023-97364024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10786227	1.00[JPT][hapmap]
rs10882643	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10882644	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10882649	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11188394	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188396	0.85[EUR][1000 genomes]
rs11188398	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188399	1.00[JPT][hapmap]
rs11188400	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11188404	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188406	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188407	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188411	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188417	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11188444	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs11188455	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs11188484	0.92[CEU][hapmap]
rs11591779	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11592213	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12357173	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs12358481	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs12359272	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1340837	0.84[CEU][hapmap]
rs17461546	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs17462179	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs17553401	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2004611	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2017218	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2152916	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2296691	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2861151	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs3176895	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs3763707	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4037	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4258314	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4417206	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4917697	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4918951	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4918966	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs55799794	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs56322409	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57347444	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61871790	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61871792	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61871793	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs749050	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7917792	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8758	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[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	nsv526180	chr10:97332195-97511037	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11188393	ENTPD1	Cis_1M	lymphoblastoid	RTeQTL
rs11188393	ENTPD1	cis	multi-tissue	Pritchard
rs11188393	ALDH18A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97335200-97373400	Weak transcription	Psoas Muscle	Psoas
2	chr10:97359400-97364600	Weak transcription	Placenta	Placenta
3	chr10:97360200-97364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:97360200-97364600	Weak transcription	GM12878-XiMat	blood
5	chr10:97360400-97364400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:97360400-97364600	Enhancers	HepG2	liver
7	chr10:97360800-97364400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:97360800-97364400	Weak transcription	Fetal Brain Female	brain
9	chr10:97360800-97364800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:97360800-97365000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr10:97360800-97365000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr10:97360800-97366200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr10:97361000-97364600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:97361000-97364600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:97361000-97364800	Weak transcription	Stomach Mucosa	stomach
16	chr10:97361000-97365000	Weak transcription	Adipose Nuclei	Adipose
17	chr10:97361000-97365000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr10:97361000-97365000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr10:97361000-97365200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr10:97361000-97366000	Weak transcription	Hela-S3	cervix
21	chr10:97361000-97366400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:97361000-97366800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr10:97361000-97367600	Weak transcription	Fetal Kidney	kidney
24	chr10:97361000-97368200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr10:97361000-97368400	Weak transcription	Brain Hippocampus Middle	brain
26	chr10:97361200-97364200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:97361200-97364800	Weak transcription	Brain Anterior Caudate	brain
28	chr10:97361400-97364200	Weak transcription	Fetal Heart	heart
29	chr10:97361400-97364400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr10:97361400-97364400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr10:97361400-97364400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr10:97361400-97364600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr10:97361400-97365200	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr10:97361400-97365800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr10:97361400-97366600	Weak transcription	K562	blood
36	chr10:97361600-97364800	Weak transcription	Osteobl	bone
37	chr10:97361600-97365000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr10:97361600-97367800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr10:97361800-97364800	Weak transcription	Thymus	Thymus
40	chr10:97361800-97369200	Weak transcription	Primary B cells from cord blood	blood
41	chr10:97362000-97364400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:97362000-97365200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr10:97362400-97364600	Enhancers	Stomach Smooth Muscle	stomach
44	chr10:97362400-97364600	Weak transcription	NH-A	brain
45	chr10:97362400-97364800	Weak transcription	NHLF	lung
46	chr10:97362400-97365000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr10:97362400-97365200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr10:97362400-97365400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr10:97362600-97364200	Weak transcription	Fetal Intestine Large	intestine
50	chr10:97362600-97364400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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