Variant report

Variant	rs485099
Chromosome Location	chr11:72500060-72500061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72500034-72500206	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
2	chr11:72498256..72500264-chr11:72897078..72899164,2	MCF-7	breast:
3	chr11:72486581..72489149-chr11:72499253..72500908,2	K562	blood:
4	chr11:72490152..72495824-chr11:72496679..72500356,10	K562	blood:
5	chr11:72459780..72464369-chr11:72496820..72501695,6	MCF-7	breast:

No data

Variant related genes	Relation type
STARD10	TF binding region
ENSG00000265064	Chromatin interaction
ENSG00000168010	Chromatin interaction
ENSG00000186635	Chromatin interaction
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1000620	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10431171	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10431172	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10431174	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10751213	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10751215	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10751216	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10898877	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898879	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898880	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11235592	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235594	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235596	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1864653	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1975109	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35343925	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35668754	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35752694	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4459331	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4459332	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944796	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944797	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944800	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944802	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944805	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs519790	0.82[AFR][1000 genomes]
rs6592486	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592489	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592490	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677231	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7110719	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7952617	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
4	esv3471108	chr11:72499831-72500593	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3514855	chr11:72499987-72500411	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3471119	chr11:72499992-72500406	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3514856	chr11:72499992-72500406	Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs485099	STARD10	cis	Whole Blood	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72493400-72500200	Weak transcription	Osteobl	bone
2	chr11:72493600-72500400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:72493600-72502400	Enhancers	Stomach Mucosa	stomach
4	chr11:72493800-72500400	Weak transcription	A549	lung
5	chr11:72493800-72500600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:72493800-72501200	Enhancers	Duodenum Mucosa	Duodenum
7	chr11:72493800-72503200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:72493800-72503600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:72493800-72504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:72493800-72504200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr11:72494000-72500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:72494000-72500200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:72494000-72500400	Weak transcription	Brain Angular Gyrus	brain
14	chr11:72494000-72503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:72494000-72503600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:72494000-72504400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr11:72494000-72504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:72494200-72501800	Enhancers	Fetal Intestine Large	intestine
19	chr11:72494200-72503400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:72494600-72500200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:72494800-72500200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:72495000-72500600	Weak transcription	Fetal Brain Male	brain
23	chr11:72496000-72501400	Enhancers	Placenta	Placenta
24	chr11:72497000-72501200	Enhancers	Gastric	stomach
25	chr11:72497200-72500800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:72497200-72501200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr11:72497400-72500400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:72497800-72500200	Enhancers	Primary B cells from cord blood	blood
29	chr11:72498400-72501600	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:72498400-72502000	Enhancers	Fetal Heart	heart
31	chr11:72498400-72502200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr11:72498600-72500400	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:72498600-72500400	Weak transcription	Fetal Stomach	stomach
34	chr11:72498600-72500600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr11:72498600-72503600	Weak transcription	Thymus	Thymus
36	chr11:72498800-72500400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:72498800-72500400	Weak transcription	Small Intestine	intestine
38	chr11:72498800-72503800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:72498800-72504200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:72499000-72500400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:72499000-72500800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:72499000-72501000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:72499000-72501000	Enhancers	Adipose Nuclei	Adipose
44	chr11:72499000-72501400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:72499000-72504000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:72499000-72504000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:72499000-72504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:72499200-72500200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:72499200-72500200	Enhancers	HepG2	liver
50	chr11:72499200-72500400	Enhancers	Fetal Intestine Small	intestine

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