Variant report

Variant	rs8113221
Chromosome Location	chr19:19677010-19677011
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	chr19:19661739..19664065-chr19:19676353..19678590,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10416924	0.96[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10417097	0.83[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1054685	0.96[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs11880888	1.00[CEU][hapmap]
rs1865037	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2872970	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55955356	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59350672	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62137778	0.97[EUR][1000 genomes]
rs6511040	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6511041	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6511046	0.92[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7248885	0.83[CEU][hapmap]
rs8099944	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8109130	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8110266	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8113107	0.97[EUR][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	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8113221	OCEL1	cis	parietal	SCAN
rs8113221	HAUS8	cis	parietal	SCAN
rs8113221	MED26	cis	parietal	SCAN
rs8113221	GATAD2A	cis	parietal	SCAN
rs8113221	SLC27A1	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19652000-19688400	Weak transcription	Right Atrium	heart
2	chr19:19652200-19680000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:19652600-19686200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:19659200-19686200	Weak transcription	Fetal Brain Male	brain
5	chr19:19661400-19677800	Weak transcription	Fetal Lung	lung
6	chr19:19665600-19677200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:19665600-19682400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:19665600-19685600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:19666600-19679600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:19666800-19681000	Weak transcription	Pancreas	Pancrea
11	chr19:19667600-19679600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr19:19669200-19679600	Weak transcription	NHDF-Ad	bronchial
13	chr19:19669400-19683200	Strong transcription	Fetal Stomach	stomach
14	chr19:19669400-19683600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr19:19669600-19679600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:19669600-19680200	Weak transcription	Fetal Intestine Small	intestine
17	chr19:19669600-19680800	Weak transcription	Gastric	stomach
18	chr19:19671000-19686200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:19671200-19678200	Weak transcription	Spleen	Spleen
20	chr19:19671200-19681000	Weak transcription	Lung	lung
21	chr19:19671200-19681800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:19671200-19686400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:19671200-19686400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr19:19671400-19681000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr19:19671600-19677400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:19671600-19679600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:19671600-19681600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:19671600-19701800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:19672000-19704800	Weak transcription	Brain Angular Gyrus	brain
30	chr19:19672200-19682000	Strong transcription	Thymus	Thymus
31	chr19:19672400-19681600	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr19:19672600-19682400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:19672800-19682000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:19673000-19679600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:19673000-19680800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:19673400-19682600	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:19673600-19679400	Weak transcription	Fetal Muscle Leg	muscle
38	chr19:19673800-19680000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr19:19674000-19678200	Weak transcription	Brain Anterior Caudate	brain
40	chr19:19674200-19677800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:19674200-19689200	Weak transcription	Brain Substantia Nigra	brain
42	chr19:19674200-19690600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr19:19674200-19690800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:19674200-19691000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr19:19674200-19699800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr19:19674400-19679400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr19:19674400-19679400	Weak transcription	Fetal Thymus	thymus
48	chr19:19674400-19690600	Weak transcription	Stomach Mucosa	stomach
49	chr19:19674600-19677800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:19675000-19682200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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