Variant report

Variant	rs12808517
Chromosome Location	chr11:72601276-72601277
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10898889	0.82[EUR][1000 genomes]
rs11604683	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11822039	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs12803589	1.00[LWK][hapmap]
rs12805658	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs3862794	0.84[CEU][hapmap]
rs3862796	0.82[ASW][hapmap];0.91[CEU][hapmap]
rs4944016	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs4944804	1.00[ASW][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap]
rs593753	0.82[ASW][hapmap];0.91[CEU][hapmap]
rs6592500	0.84[CEU][hapmap]
rs6592505	0.82[CEU][hapmap]
rs6592509	0.82[CEU][hapmap]
rs6592510	0.91[CEU][hapmap]
rs7108955	0.90[CEU][hapmap]
rs7946861	0.84[CEU][hapmap]

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	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
2	nsv975362	chr11:72598491-72611417	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12808517	STARD10	cis	Whole Blood	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72540200-72616600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr11:72543200-72614800	Weak transcription	Psoas Muscle	Psoas
3	chr11:72543400-72603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:72567200-72612200	Weak transcription	Small Intestine	intestine
5	chr11:72576800-72602400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:72577200-72651600	Weak transcription	Gastric	stomach
7	chr11:72581200-72602800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:72581200-72609000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:72581800-72619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:72582600-72622000	Weak transcription	Fetal Heart	heart
11	chr11:72582800-72605800	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:72587200-72602200	Weak transcription	Esophagus	oesophagus
13	chr11:72591400-72601400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:72593200-72601600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:72593200-72615000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr11:72593200-72616200	Strong transcription	Primary B cells from cord blood	blood
17	chr11:72593400-72601400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr11:72594000-72601400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:72594000-72601400	Strong transcription	Dnd41	blood
20	chr11:72594000-72602800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:72594200-72619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:72594400-72602200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:72594800-72613800	Weak transcription	Colonic Mucosa	Colon
24	chr11:72595400-72602200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:72595600-72601400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr11:72595800-72601400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr11:72595800-72601400	Strong transcription	Liver	Liver
28	chr11:72595800-72601600	Strong transcription	Fetal Thymus	thymus
29	chr11:72596200-72601800	Strong transcription	Osteobl	bone
30	chr11:72596400-72601400	Strong transcription	Primary T cells from cord blood	blood
31	chr11:72596400-72601400	Strong transcription	HepG2	liver
32	chr11:72596400-72601800	Strong transcription	GM12878-XiMat	blood
33	chr11:72596400-72602400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr11:72596600-72602200	Strong transcription	Left Ventricle	heart
35	chr11:72596800-72601400	Strong transcription	Ovary	ovary
36	chr11:72597000-72601400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:72597200-72612200	Weak transcription	Aorta	Aorta
38	chr11:72597200-72634200	Weak transcription	NHLF	lung
39	chr11:72597600-72606800	Weak transcription	Brain Anterior Caudate	brain
40	chr11:72597600-72609400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:72597600-72617600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:72597800-72614600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:72598000-72601400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:72598200-72602600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:72598600-72603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:72598600-72603000	Weak transcription	HMEC	breast
47	chr11:72599000-72602800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:72599200-72606200	Weak transcription	NHEK	skin
49	chr11:72599200-72613200	Weak transcription	Fetal Brain Female	brain
50	chr11:72599200-72614800	Weak transcription	Brain Cingulate Gyrus	brain

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