Variant report

Variant	rs943347
Chromosome Location	chr10:97278123-97278124
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	chr10:97277519..97280426-chr10:97289369..97291949,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10509691	0.85[JPT][hapmap]
rs11188337	0.83[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11188342	0.83[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12221125	0.98[ASN][1000 genomes]
rs12252701	0.95[JPT][hapmap]
rs1409712	0.81[CHB][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1409713	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1409714	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17110913	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]
rs1998911	0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs4917693	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4917694	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4917696	0.95[JPT][hapmap]
rs4918941	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4918943	0.94[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59521949	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7071071	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs7089353	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];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7092561	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7100779	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs752913	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7896439	0.98[ASN][1000 genomes]
rs7911804	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7923718	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9663482	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783274	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];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	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
2	esv3328695	chr10:97277817-97278168	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs943347	STX12	trans	parietal	SCAN
rs943347	DNTT	cis	cerebellum	SCAN
rs943347	AVPI1	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97260000-97278400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:97262400-97278400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:97269000-97282600	Weak transcription	Fetal Kidney	kidney
4	chr10:97270600-97278200	Enhancers	Rectal Smooth Muscle	rectum
5	chr10:97270600-97278600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr10:97270600-97279200	Enhancers	Left Ventricle	heart
7	chr10:97270600-97279200	Enhancers	Right Atrium	heart
8	chr10:97270600-97279200	Enhancers	Stomach Mucosa	stomach
9	chr10:97270600-97283400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr10:97271000-97281200	Enhancers	Right Ventricle	heart
11	chr10:97271400-97279800	Enhancers	Fetal Muscle Leg	muscle
12	chr10:97271400-97279800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr10:97271600-97279800	Enhancers	Fetal Heart	heart
14	chr10:97271600-97284600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr10:97272800-97278600	Enhancers	HUVEC	blood vessel
16	chr10:97273400-97279800	Enhancers	Colon Smooth Muscle	Colon
17	chr10:97273600-97284000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:97274200-97278600	Weak transcription	Fetal Lung	lung
19	chr10:97274200-97279200	Enhancers	Pancreas	Pancrea
20	chr10:97274400-97280400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr10:97275200-97279800	Enhancers	Brain Anterior Caudate	brain
22	chr10:97275600-97279400	Enhancers	Aorta	Aorta
23	chr10:97275800-97278600	Weak transcription	Spleen	Spleen
24	chr10:97275800-97279800	Enhancers	HepG2	liver
25	chr10:97276000-97278200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr10:97276200-97279400	Enhancers	K562	blood
27	chr10:97276400-97279200	Enhancers	HSMMtube	muscle
28	chr10:97276400-97279600	Enhancers	Liver	Liver
29	chr10:97276600-97279200	Enhancers	Gastric	stomach
30	chr10:97276600-97279600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr10:97276600-97279800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:97276600-97283400	Enhancers	Fetal Brain Male	brain
33	chr10:97276800-97278800	Enhancers	Fetal Intestine Small	intestine
34	chr10:97276800-97280000	Enhancers	Fetal Stomach	stomach
35	chr10:97277000-97278800	Enhancers	Brain Hippocampus Middle	brain
36	chr10:97277000-97279000	Enhancers	Psoas Muscle	Psoas
37	chr10:97277000-97279000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr10:97277000-97279200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:97277000-97279200	Enhancers	Brain Germinal Matrix	brain
40	chr10:97277000-97279200	Enhancers	Fetal Intestine Large	intestine
41	chr10:97277000-97284200	Enhancers	Fetal Brain Female	brain
42	chr10:97277200-97278400	Enhancers	NH-A	brain
43	chr10:97277200-97278800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr10:97277200-97279000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:97277200-97279200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr10:97277200-97279400	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr10:97277200-97279600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr10:97277200-97279800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr10:97277400-97278400	Enhancers	Placenta	Placenta
50	chr10:97277400-97279000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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