Variant report

Variant	rs519790
Chromosome Location	chr11:72504141-72504142
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72502078..72507217-chr11:72523813..72527208,9	K562	blood:
2	chr11:72432212..72438079-chr11:72503579..72507160,8	MCF-7	breast:
3	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
4	chr11:72503176..72507418-chr11:72523751..72527635,5	MCF-7	breast:
5	chr11:72502776..72504800-chr11:72523813..72526790,2	K562	blood:
6	chr11:72433323..72435429-chr11:72502768..72506514,3	K562	blood:
7	chr11:72462706..72465111-chr11:72501934..72505822,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168010	Chromatin interaction
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1000620	0.86[YRI][hapmap]
rs10793048	0.80[CHB][hapmap]
rs10898885	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs11235596	0.81[JPT][hapmap];0.88[YRI][hapmap]
rs11235620	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs11822039	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs12795307	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12805658	0.85[JPT][hapmap]
rs1864653	0.80[AFR][1000 genomes]
rs4400839	0.80[CHB][hapmap]
rs4459331	0.90[YRI][hapmap]
rs481206	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs485099	0.82[AFR][1000 genomes]
rs4944014	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4944016	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs4944796	0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs4944797	0.80[AFR][1000 genomes]
rs4944800	0.81[AFR][1000 genomes]
rs4944804	0.88[CEU][hapmap]
rs593753	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs663015	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs677231	0.91[YRI][hapmap]
rs7946861	0.84[CHB][hapmap];0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs519790	STARD10	cis	Thyroid	GTEx
rs519790	STARD10	cis	Artery Tibial	GTEx
rs519790	STARD10	cis	Whole Blood	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72493800-72504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:72493800-72504200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:72494000-72504400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:72494000-72504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr11:72498800-72504200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:72499000-72504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:72499400-72504400	Weak transcription	Pancreas	Pancrea
8	chr11:72500800-72504800	Weak transcription	Psoas Muscle	Psoas
9	chr11:72501000-72504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:72501000-72504600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:72501200-72504800	Weak transcription	Gastric	stomach
12	chr11:72501400-72504200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:72501400-72504200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:72501400-72504200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr11:72501400-72504200	Weak transcription	HMEC	breast
16	chr11:72501400-72504200	Weak transcription	NHLF	lung
17	chr11:72501400-72504400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:72501400-72504400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:72501400-72504400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:72501600-72504200	Weak transcription	NHEK	skin
21	chr11:72501800-72504200	Weak transcription	NH-A	brain
22	chr11:72502000-72504400	Weak transcription	Ovary	ovary
23	chr11:72502400-72504400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr11:72503200-72504200	Enhancers	Primary B cells from cord blood	blood
25	chr11:72503200-72504200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr11:72503200-72504400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr11:72503400-72504200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr11:72503400-72504200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr11:72503400-72504200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:72503400-72504200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:72503400-72504200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:72503400-72504400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr11:72503400-72504400	Enhancers	Primary B cells from peripheral blood	blood
34	chr11:72503400-72504400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:72503400-72504400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:72503400-72504400	Enhancers	Fetal Heart	heart
37	chr11:72503400-72504400	Genic enhancers	Fetal Intestine Small	intestine
38	chr11:72503400-72504400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr11:72503400-72504600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:72503400-72504600	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr11:72503400-72504600	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr11:72503400-72504600	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr11:72503400-72504600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr11:72503400-72504600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:72503400-72504600	Flanking Active TSS	Fetal Brain Female	brain
46	chr11:72503400-72504600	Enhancers	Spleen	Spleen
47	chr11:72503400-72504800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:72503400-72504800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:72503600-72504200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:72503600-72504200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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