Variant report

Variant	rs900611
Chromosome Location	chr11:72434372-72434373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr11:72434340-72434493	MCF10A-Er-Src	breast:	n/a	n/a
2	RFX5	chr11:72432806-72434561	K562	blood:	n/a	chr11:72433627-72433642 chr11:72433630-72433639
3	RFX5	chr11:72429962-72436997	SK-N-SH	brain:	n/a	chr11:72433627-72433642 chr11:72433630-72433639
4	RFX5	chr11:72430106-72437101	IMR90	lung:	n/a	chr11:72433627-72433642 chr11:72433630-72433639

No.	Distal block	Cell Line	Cell type
1	chr11:72432212..72438079-chr11:72503579..72507160,8	MCF-7	breast:
2	chr11:72433558..72435916-chr11:72463458..72465662,2	MCF-7	breast:
3	chr11:72432071..72434614-chr11:72523637..72525908,4	K562	blood:
4	chr11:72427752..72429990-chr11:72433445..72436330,3	MCF-7	breast:
5	chr11:72431813..72439722-chr11:72491472..72498611,14	MCF-7	breast:
6	chr11:72433323..72435429-chr11:72502768..72506514,3	K562	blood:
7	chr11:72430307..72432258-chr11:72433856..72435880,2	MCF-7	breast:
8	chr11:72419217..72421589-chr11:72432521..72435426,2	K562	blood:
9	chr11:72422674..72429269-chr11:72431829..72438308,7	K562	blood:
10	chr11:72433455..72434977-chr11:72480241..72481900,2	K562	blood:

Variant related genes	Relation type
ARAP1	TF binding region
ENSG00000244134	Chromatin interaction
ENSG00000186635	Chromatin interaction
ENSG00000168010	Chromatin interaction
ENSG00000265064	Chromatin interaction
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10793040	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1681503	0.88[ASN][1000 genomes]
rs2365439	0.96[ASN][1000 genomes]
rs624030	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7110801	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs745995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv555408	chr11:72405223-72441431	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs900611	STARD10	cis	Whole Blood	GTEx
rs900611	STARD10	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72418000-72434800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr11:72418000-72441000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:72424600-72441200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:72430800-72434600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:72430800-72434800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:72433000-72439000	Strong transcription	HepG2	liver
7	chr11:72433400-72434600	Enhancers	Spleen	Spleen
8	chr11:72433400-72436200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:72433400-72436600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:72433400-72437400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:72433600-72434600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:72433600-72434800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:72433600-72435200	Enhancers	Lung	lung
14	chr11:72433600-72435600	Enhancers	Placenta	Placenta
15	chr11:72433600-72446000	Genic enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:72433600-72447800	Weak transcription	Aorta	Aorta
17	chr11:72433600-72452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:72433800-72434400	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:72433800-72434400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr11:72433800-72434400	Enhancers	Fetal Muscle Trunk	muscle
21	chr11:72433800-72434600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:72433800-72434600	Enhancers	Fetal Intestine Large	intestine
23	chr11:72433800-72434800	Enhancers	Fetal Muscle Leg	muscle
24	chr11:72433800-72434800	Weak transcription	Hela-S3	cervix
25	chr11:72433800-72434800	Enhancers	HSMM	muscle
26	chr11:72433800-72436200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:72433800-72436400	Weak transcription	Fetal Brain Female	brain
28	chr11:72433800-72436600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:72433800-72436800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:72433800-72436800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:72434000-72434400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr11:72434000-72434400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:72434000-72434400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr11:72434000-72434400	Enhancers	Dnd41	blood
35	chr11:72434000-72434400	Enhancers	NHEK	skin
36	chr11:72434000-72434600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:72434000-72434600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:72434000-72434600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:72434000-72434600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:72434000-72434600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr11:72434000-72434600	Enhancers	Brain Hippocampus Middle	brain
42	chr11:72434000-72434600	Enhancers	Colonic Mucosa	Colon
43	chr11:72434000-72434600	Weak transcription	Gastric	stomach
44	chr11:72434000-72434600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr11:72434000-72434800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:72434000-72434800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:72434000-72434800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:72434000-72434800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:72434000-72434800	Weak transcription	Esophagus	oesophagus
50	chr11:72434000-72434800	Enhancers	Stomach Smooth Muscle	stomach

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