Variant report

Variant	rs10793048
Chromosome Location	chr11:72580398-72580399
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	chr11:72580088..72581673-chr11:72852885..72854968,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137478	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10793049	0.95[YRI][hapmap]
rs10793054	0.82[YRI][hapmap]
rs10793055	0.86[YRI][hapmap]
rs10793056	0.86[YRI][hapmap]
rs10898881	0.88[ASW][hapmap];0.95[YRI][hapmap]
rs10898885	0.93[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10898889	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898894	0.86[YRI][hapmap]
rs10898895	0.82[YRI][hapmap]
rs11235612	0.86[YRI][hapmap]
rs11235620	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11822039	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12294533	0.86[YRI][hapmap]
rs12799445	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12805658	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187494	0.81[AFR][1000 genomes]
rs2276379	0.86[YRI][hapmap]
rs2303969	0.86[YRI][hapmap]
rs3862794	0.85[MEX][hapmap];0.83[AMR][1000 genomes]
rs3862796	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs4394861	0.85[AFR][1000 genomes]
rs4400839	1.00[CHB][hapmap];0.97[CHD][hapmap]
rs4944016	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944823	0.82[AFR][1000 genomes]
rs519790	0.80[CHB][hapmap]
rs593753	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs6592500	0.85[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6592505	1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs663015	0.80[CHB][hapmap]
rs7108955	0.82[JPT][hapmap]
rs7126070	0.83[EUR][1000 genomes]
rs7925928	0.82[YRI][hapmap]
rs7936751	0.82[YRI][hapmap]
rs7943424	0.87[ASW][hapmap];0.95[YRI][hapmap]
rs7946861	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10793048	STARD10	cis	Whole Blood	GTEx
rs10793048	KCNE3	cis	cerebellum	SCAN
rs10793048	FCHSD2	cis	parietal	SCAN

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72540200-72616600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr11:72540600-72589800	Strong transcription	Primary B cells from cord blood	blood
3	chr11:72543200-72614800	Weak transcription	Psoas Muscle	Psoas
4	chr11:72543400-72603000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:72550000-72600400	Weak transcription	Pancreas	Pancrea
6	chr11:72552200-72580400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:72552400-72597400	Weak transcription	HMEC	breast
8	chr11:72554600-72580400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:72554600-72595800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:72554600-72596600	Weak transcription	Fetal Brain Female	brain
11	chr11:72555600-72586400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:72555800-72580600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:72555800-72595600	Weak transcription	Thymus	Thymus
14	chr11:72556000-72586400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:72556800-72596600	Weak transcription	Spleen	Spleen
16	chr11:72557600-72595600	Weak transcription	Lung	lung
17	chr11:72560400-72580400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:72560600-72580800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:72560800-72580800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:72567200-72612200	Weak transcription	Small Intestine	intestine
21	chr11:72568400-72582200	Weak transcription	Brain Substantia Nigra	brain
22	chr11:72568600-72582000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:72571200-72582200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:72571600-72580400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:72573400-72582000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr11:72573600-72581200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:72574600-72589600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:72574800-72590800	Strong transcription	GM12878-XiMat	blood
29	chr11:72575000-72599200	Weak transcription	Hela-S3	cervix
30	chr11:72576000-72596400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:72576000-72596600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr11:72576000-72596800	Weak transcription	Ovary	ovary
33	chr11:72576200-72582200	Weak transcription	Brain Anterior Caudate	brain
34	chr11:72576200-72596800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:72576400-72596400	Weak transcription	NHEK	skin
36	chr11:72576800-72580600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:72576800-72581000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr11:72576800-72596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:72576800-72602400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:72577000-72582200	Weak transcription	Colon Smooth Muscle	Colon
41	chr11:72577000-72596400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:72577000-72596800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:72577000-72597000	Weak transcription	Brain Angular Gyrus	brain
44	chr11:72577200-72580600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:72577200-72580800	Weak transcription	Fetal Lung	lung
46	chr11:72577200-72582200	Weak transcription	Fetal Kidney	kidney
47	chr11:72577200-72582200	Weak transcription	Fetal Stomach	stomach
48	chr11:72577200-72596400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:72577200-72596400	Weak transcription	Fetal Muscle Leg	muscle
50	chr11:72577200-72596400	Weak transcription	Right Ventricle	heart

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