Variant report

Variant	rs1819288
Chromosome Location	chr10:97275744-97275745
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97274675..97276217-chr10:97279235..97281158,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10882603	0.81[YRI][hapmap]
rs10882606	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10882608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10882610	0.83[CEU][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10882611	0.82[ASW][hapmap];0.94[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11188338	0.93[ASN][1000 genomes]
rs11188344	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11188346	0.82[ASW][hapmap];0.94[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11188347	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11188348	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11188349	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11188358	0.82[EUR][1000 genomes]
rs12254959	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12776562	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[ASN][1000 genomes]
rs12776800	0.83[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1326932	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1359722	0.88[ASN][1000 genomes]
rs1887226	0.81[EUR][1000 genomes]
rs35764302	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4572071	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6584004	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7918060	0.87[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7922126	0.94[CEU][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.92[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1819288	HHEX	cis	parietal	SCAN
rs1819288	ZFYVE27	cis	cerebellum	SCAN
rs1819288	C10orf131	cis	cerebellum	SCAN
rs1819288	PLCE1	cis	cerebellum	SCAN

Chromatin state (count:71 , 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	chr10:97269000-97277200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:97269000-97282600	Weak transcription	Fetal Kidney	kidney
5	chr10:97269200-97277200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr10:97269400-97277200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr10:97269600-97277200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr10:97270600-97278200	Enhancers	Rectal Smooth Muscle	rectum
9	chr10:97270600-97278600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr10:97270600-97279200	Enhancers	Left Ventricle	heart
11	chr10:97270600-97279200	Enhancers	Right Atrium	heart
12	chr10:97270600-97279200	Enhancers	Stomach Mucosa	stomach
13	chr10:97270600-97283400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr10:97270800-97275800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr10:97271000-97281200	Enhancers	Right Ventricle	heart
16	chr10:97271400-97275800	Weak transcription	Gastric	stomach
17	chr10:97271400-97279800	Enhancers	Fetal Muscle Leg	muscle
18	chr10:97271400-97279800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr10:97271600-97279800	Enhancers	Fetal Heart	heart
20	chr10:97271600-97284600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr10:97272000-97277400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr10:97272000-97277400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:97272200-97276000	Enhancers	Psoas Muscle	Psoas
24	chr10:97272400-97277600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:97272800-97278600	Enhancers	HUVEC	blood vessel
26	chr10:97273000-97277800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr10:97273200-97276200	Weak transcription	K562	blood
28	chr10:97273200-97277000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:97273200-97277200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr10:97273400-97277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr10:97273400-97279800	Enhancers	Colon Smooth Muscle	Colon
32	chr10:97273600-97277000	Weak transcription	Fetal Intestine Large	intestine
33	chr10:97273600-97277200	Weak transcription	Ovary	ovary
34	chr10:97273600-97284000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:97273800-97277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:97274000-97275800	Enhancers	Spleen	Spleen
37	chr10:97274000-97277000	Weak transcription	Colonic Mucosa	Colon
38	chr10:97274200-97277000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr10:97274200-97277200	Weak transcription	NH-A	brain
40	chr10:97274200-97278600	Weak transcription	Fetal Lung	lung
41	chr10:97274200-97279200	Enhancers	Pancreas	Pancrea
42	chr10:97274400-97276000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:97274400-97276800	Weak transcription	Fetal Stomach	stomach
44	chr10:97274400-97277600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr10:97274400-97277600	Weak transcription	Adipose Nuclei	Adipose
46	chr10:97274400-97277600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr10:97274400-97280400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr10:97274600-97275800	Weak transcription	HepG2	liver
49	chr10:97274600-97276200	Weak transcription	Brain Substantia Nigra	brain
50	chr10:97274600-97277800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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