Variant report

Variant	rs11595114
Chromosome Location	chr10:97231520-97231521
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97230234..97233080-chr10:97234488..97236035,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10509690	1.00[CHB][hapmap];0.84[GIH][hapmap];0.83[ASN][1000 genomes]
rs12414693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12415079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12415681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12416103	1.00[JPT][hapmap]
rs61868706	0.83[ASN][1000 genomes]
rs725926	1.00[CHB][hapmap];0.84[GIH][hapmap];0.83[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	nsv1045002	chr10:97214418-97250630	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11595114	FRAT2	cis	cerebellum	SCAN
rs11595114	C10orf62	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97213200-97234200	Weak transcription	Colonic Mucosa	Colon
2	chr10:97220600-97232000	Enhancers	Fetal Heart	heart
3	chr10:97223200-97234000	Weak transcription	Ovary	ovary
4	chr10:97224800-97237000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:97226200-97236000	Enhancers	HepG2	liver
6	chr10:97226400-97232200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:97226400-97232200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr10:97226400-97232200	Enhancers	Colon Smooth Muscle	Colon
9	chr10:97226400-97232400	Enhancers	Rectal Smooth Muscle	rectum
10	chr10:97226400-97236800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr10:97226400-97242600	Enhancers	Fetal Intestine Small	intestine
12	chr10:97226800-97234600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr10:97227400-97233000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:97227400-97233200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:97227400-97233400	Weak transcription	Fetal Lung	lung
16	chr10:97227400-97240400	Weak transcription	Spleen	Spleen
17	chr10:97227600-97235800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:97228600-97233800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr10:97228600-97236800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr10:97229000-97235800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:97229200-97233400	Enhancers	Left Ventricle	heart
22	chr10:97229400-97231800	Genic enhancers	Aorta	Aorta
23	chr10:97229600-97231600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr10:97229600-97231600	Enhancers	Lung	lung
25	chr10:97229600-97232400	Enhancers	Right Ventricle	heart
26	chr10:97229600-97233800	Weak transcription	Small Intestine	intestine
27	chr10:97229800-97233600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr10:97229800-97233600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr10:97229800-97234000	Weak transcription	Brain Germinal Matrix	brain
30	chr10:97229800-97236600	Enhancers	Stomach Smooth Muscle	stomach
31	chr10:97230000-97231600	Weak transcription	K562	blood
32	chr10:97230200-97231600	Weak transcription	Brain Substantia Nigra	brain
33	chr10:97230200-97231600	Weak transcription	Fetal Brain Male	brain
34	chr10:97230200-97233400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:97230200-97233800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:97230200-97233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:97230200-97233800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr10:97230400-97233600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:97230400-97233600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr10:97230400-97233600	Weak transcription	Brain Angular Gyrus	brain
41	chr10:97230400-97233800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr10:97230400-97233800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr10:97230400-97233800	Weak transcription	Brain Hippocampus Middle	brain
44	chr10:97230400-97233800	Weak transcription	Fetal Brain Female	brain
45	chr10:97230400-97234000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr10:97230400-97234000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr10:97230400-97234000	Weak transcription	Fetal Stomach	stomach
48	chr10:97230400-97234200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr10:97230400-97234200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:97230400-97234400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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