Variant report

Variant	rs11188346
Chromosome Location	chr10:97289992-97289993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97280950..97286355-chr10:97287261..97290251,5	K562	blood:
2	chr10:97277519..97280426-chr10:97289369..97291949,2	K562	blood:
3	chr10:97289605..97292487-chr10:97295547..97298455,3	K562	blood:
4	chr10:97288240..97291346-chr10:97319603..97322550,3	K562	blood:
5	chr10:97262883..97265174-chr10:97289179..97291481,2	K562	blood:

Variant related genes	Relation type
ENSG00000095637	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10882606	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10882608	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10882610	0.89[CEU][hapmap];0.84[GIH][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10882611	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11188338	0.85[ASN][1000 genomes]
rs11188344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11188347	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11188348	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11188349	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11188358	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12254959	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12776562	0.83[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs12776800	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1326932	1.00[CEU][hapmap];0.83[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1359722	0.95[ASN][1000 genomes]
rs1819288	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1887226	0.88[EUR][1000 genomes]
rs35764302	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4572071	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6584004	0.86[JPT][hapmap]
rs7918060	0.87[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7922126	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11188346	C10orf131	cis	cerebellum	SCAN
rs11188346	PLCE1	cis	cerebellum	SCAN
rs11188346	HHEX	cis	parietal	SCAN
rs11188346	ZFYVE27	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97278000-97294000	Weak transcription	Esophagus	oesophagus
2	chr10:97279200-97290400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:97279200-97290400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:97279200-97293200	Weak transcription	Fetal Lung	lung
5	chr10:97279800-97290600	Weak transcription	Fetal Muscle Leg	muscle
6	chr10:97280600-97291000	Enhancers	Colon Smooth Muscle	Colon
7	chr10:97280800-97301400	Enhancers	Fetal Heart	heart
8	chr10:97281600-97296400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:97281800-97295000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr10:97282200-97304400	Weak transcription	Brain Germinal Matrix	brain
11	chr10:97282400-97292000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr10:97282400-97292000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:97283000-97292000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr10:97283200-97296400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:97285000-97290000	Weak transcription	Brain Substantia Nigra	brain
16	chr10:97285200-97292400	Enhancers	Fetal Intestine Large	intestine
17	chr10:97286000-97290800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:97286200-97290400	Weak transcription	Spleen	Spleen
19	chr10:97286200-97294800	Weak transcription	Small Intestine	intestine
20	chr10:97286200-97296000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr10:97286800-97293200	Weak transcription	Liver	Liver
22	chr10:97287800-97292800	Enhancers	Brain Cingulate Gyrus	brain
23	chr10:97288200-97290400	Weak transcription	Aorta	Aorta
24	chr10:97288200-97291000	Enhancers	HepG2	liver
25	chr10:97288600-97291800	Weak transcription	Placenta	Placenta
26	chr10:97288800-97292400	Enhancers	Brain Anterior Caudate	brain
27	chr10:97288800-97292800	Enhancers	Right Atrium	heart
28	chr10:97288800-97293600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr10:97288800-97294400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr10:97289000-97290000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr10:97289000-97290000	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr10:97289000-97290400	Enhancers	Duodenum Mucosa	Duodenum
33	chr10:97289000-97291200	Enhancers	Fetal Brain Female	brain
34	chr10:97289000-97291400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr10:97289000-97291400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:97289000-97292400	Enhancers	Fetal Stomach	stomach
37	chr10:97289000-97294800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr10:97289000-97295000	Enhancers	Right Ventricle	heart
39	chr10:97289200-97290000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr10:97289200-97290000	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr10:97289200-97290200	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr10:97289200-97290400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr10:97289200-97290400	Enhancers	Brain Hippocampus Middle	brain
44	chr10:97289200-97290400	Enhancers	Stomach Mucosa	stomach
45	chr10:97289200-97290800	Enhancers	K562	blood
46	chr10:97289200-97291000	Enhancers	Brain Angular Gyrus	brain
47	chr10:97289200-97291600	Enhancers	Primary hematopoietic stem cells	blood
48	chr10:97289200-97292200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr10:97289200-97292400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr10:97289200-97292600	Enhancers	Lung	lung

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