Variant report

Variant	rs624030
Chromosome Location	chr11:72459528-72459529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72458494..72461101-chr11:72492765..72494440,2	K562	blood:
2	chr11:72458907..72461265-chr11:72461871..72463782,2	MCF-7	breast:
3	chr11:72457263..72459672-chr11:72491843..72494369,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214530	Chromatin interaction
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10793040	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1681503	0.89[ASN][1000 genomes]
rs2365439	0.90[ASN][1000 genomes]
rs7110801	0.96[ASN][1000 genomes]
rs745995	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs900611	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	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
rs624030	STARD10	cis	Whole Blood	GTEx
rs624030	STARD10	cis	Thyroid	GTEx
rs624030	STARD10	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72448400-72461600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:72448600-72461000	Weak transcription	Dnd41	blood
3	chr11:72449600-72462200	Weak transcription	HSMM	muscle
4	chr11:72449800-72462200	Weak transcription	Gastric	stomach
5	chr11:72450000-72462200	Genic enhancers	Fetal Intestine Small	intestine
6	chr11:72451000-72461000	Weak transcription	Primary T cells from cord blood	blood
7	chr11:72451000-72462200	Enhancers	Fetal Intestine Large	intestine
8	chr11:72452400-72461000	Weak transcription	Pancreas	Pancrea
9	chr11:72452400-72461400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:72453000-72461600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:72453200-72461600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:72453200-72462200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:72453200-72462200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:72453400-72461600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr11:72453400-72462000	Weak transcription	NHLF	lung
16	chr11:72453400-72462200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:72453600-72461200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:72453600-72461600	Weak transcription	Small Intestine	intestine
19	chr11:72453600-72461800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:72453600-72461800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:72453600-72462000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:72453600-72462200	Weak transcription	HMEC	breast
23	chr11:72453600-72462400	Weak transcription	Left Ventricle	heart
24	chr11:72453800-72461400	Weak transcription	Fetal Lung	lung
25	chr11:72453800-72461800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:72453800-72462000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:72453800-72462000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:72453800-72462400	Weak transcription	Esophagus	oesophagus
29	chr11:72454000-72462000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:72454200-72462400	Weak transcription	Fetal Heart	heart
31	chr11:72455000-72461200	Weak transcription	Placenta	Placenta
32	chr11:72455200-72460000	Weak transcription	Colonic Mucosa	Colon
33	chr11:72455200-72461200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:72455400-72459600	Weak transcription	Liver	Liver
35	chr11:72455400-72460200	Weak transcription	Hela-S3	cervix
36	chr11:72455400-72462200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:72455800-72459600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:72455800-72461200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:72455800-72461600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:72455800-72462200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:72455800-72462200	Weak transcription	Right Ventricle	heart
42	chr11:72456000-72459600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr11:72456000-72459800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:72456000-72460000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:72456000-72461600	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:72456000-72461800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:72456000-72461800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:72456000-72462400	Weak transcription	Right Atrium	heart
49	chr11:72456200-72461600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:72456200-72461600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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