Variant report

Variant	rs17110913
Chromosome Location	chr10:97283567-97283568
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	chr10:97280950..97286355-chr10:97287261..97290251,5	K562	blood:
2	chr10:97282540..97285200-chr10:97291326..97293754,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10509691	0.85[JPT][hapmap]
rs1075529	0.88[EUR][1000 genomes]
rs11188337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11188342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12221125	0.95[ASN][1000 genomes]
rs12252701	0.95[JPT][hapmap]
rs1409712	0.87[CEU][hapmap];0.81[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1409713	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1409714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1998911	0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs4917693	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4917694	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4917696	0.95[JPT][hapmap]
rs4918941	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4918943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59521949	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61869980	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7071071	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs7089353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7092561	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7100779	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs752913	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7896439	0.95[ASN][1000 genomes]
rs7911804	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7923718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs943345	0.84[MEX][hapmap]
rs943347	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9663482	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9783274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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	esv1808679	chr10:97266478-97316855	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17110913	AVPI1	cis	parietal	SCAN
rs17110913	STX12	trans	parietal	SCAN
rs17110913	DNTT	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97271600-97284600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr10:97273600-97284000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:97277000-97284200	Enhancers	Fetal Brain Female	brain
4	chr10:97278000-97284000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:97278000-97294000	Weak transcription	Esophagus	oesophagus
6	chr10:97279000-97284000	Weak transcription	Psoas Muscle	Psoas
7	chr10:97279000-97284000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr10:97279200-97285800	Weak transcription	Pancreas	Pancrea
9	chr10:97279200-97290400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:97279200-97290400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:97279200-97293200	Weak transcription	Fetal Lung	lung
12	chr10:97279400-97283800	Weak transcription	K562	blood
13	chr10:97279400-97285800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr10:97279600-97284000	Weak transcription	Liver	Liver
15	chr10:97279600-97284800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:97279800-97284600	Weak transcription	Brain Substantia Nigra	brain
17	chr10:97279800-97288200	Weak transcription	HepG2	liver
18	chr10:97279800-97290600	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:97280000-97284200	Weak transcription	Fetal Stomach	stomach
20	chr10:97280400-97289000	Enhancers	Rectal Smooth Muscle	rectum
21	chr10:97280600-97291000	Enhancers	Colon Smooth Muscle	Colon
22	chr10:97280800-97285000	Enhancers	Right Atrium	heart
23	chr10:97280800-97301400	Enhancers	Fetal Heart	heart
24	chr10:97281000-97285600	Weak transcription	Fetal Intestine Small	intestine
25	chr10:97281200-97284600	Weak transcription	Right Ventricle	heart
26	chr10:97281600-97284200	Weak transcription	Lung	lung
27	chr10:97281600-97285800	Weak transcription	Gastric	stomach
28	chr10:97281600-97289800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:97281600-97296400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr10:97281800-97283600	Enhancers	Brain Hippocampus Middle	brain
31	chr10:97281800-97295000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr10:97282000-97283600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:97282200-97283800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr10:97282200-97285200	Enhancers	Brain Angular Gyrus	brain
35	chr10:97282200-97285400	Enhancers	Brain Cingulate Gyrus	brain
36	chr10:97282200-97304400	Weak transcription	Brain Germinal Matrix	brain
37	chr10:97282400-97283800	Enhancers	Brain Anterior Caudate	brain
38	chr10:97282400-97288800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:97282400-97292000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr10:97282400-97292000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:97282600-97283600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr10:97282600-97284400	Enhancers	Stomach Smooth Muscle	stomach
43	chr10:97282600-97286600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:97282800-97285800	Weak transcription	Aorta	Aorta
45	chr10:97282800-97287400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr10:97282800-97288800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr10:97283000-97292000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr10:97283200-97283600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:97283200-97283600	Enhancers	Stomach Mucosa	stomach
50	chr10:97283200-97284000	Weak transcription	Left Ventricle	heart

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