Variant report

Variant	rs663015
Chromosome Location	chr11:72499035-72499036
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	MAFK	chr11:72498337-72499226	K562	blood:	n/a	chr11:72498961-72498971 chr11:72498900-72498915
2	POLR2A	chr11:72498305-72499073	K562	blood:	n/a	n/a
3	MTA3	chr11:72498378-72499151	GM12878	blood:	n/a	n/a
4	ATF2	chr11:72498459-72499069	GM12878	blood:	n/a	n/a
5	NR2F2	chr11:72498056-72499348	K562	blood:	n/a	n/a
6	UBTF	chr11:72498266-72499216	K562	blood:	n/a	n/a
7	ELF1	chr11:72498182-72499082	GM12878	blood:	n/a	chr11:72498292-72498303
8	MYC	chr11:72498312-72499521	K562	blood:	n/a	n/a
9	MAZ	chr11:72498205-72499146	K562	blood:	n/a	n/a
10	ELF1	chr11:72498249-72499047	K562	blood:	n/a	chr11:72498292-72498303
11	TBP	chr11:72498331-72499529	K562	blood:	n/a	n/a
12	POLR2A	chr11:72498165-72499063	HL-60	blood:	n/a	n/a
13	RUNX3	chr11:72498063-72499163	GM12878	blood:	n/a	n/a
14	NFIC	chr11:72498660-72499263	GM12878	blood:	n/a	n/a
15	RUNX3	chr11:72498020-72499360	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr11:72498841-72499103	K562	blood:	n/a	n/a
17	PML	chr11:72498170-72499326	GM12878	blood:	n/a	n/a
18	SPI1	chr11:72497930-72499179	HL-60	blood:	n/a	chr11:72498921-72498934 chr11:72498293-72498300 chr11:72498292-72498301
19	EP300	chr11:72498387-72499094	K562	blood:	n/a	chr11:72498905-72498914
20	STAT5A	chr11:72498439-72499304	GM12878	blood:	n/a	chr11:72498779-72498791
21	MAX	chr11:72498308-72499496	K562	blood:	n/a	n/a
22	RCOR1	chr11:72498225-72499496	K562	blood:	n/a	n/a
23	RCOR1	chr11:72498677-72499283	K562	blood:	n/a	n/a
24	POLR2A	chr11:72498997-72499043	HepG2	liver:	n/a	n/a
25	JUND	chr11:72498260-72499159	K562	blood:	n/a	chr11:72498960-72498970
26	POLR2A	chr11:72498346-72499176	K562	blood:	n/a	n/a
27	NFIC	chr11:72498642-72499047	GM12878	blood:	n/a	n/a
28	MTA3	chr11:72498188-72499577	GM12878	blood:	n/a	n/a
29	MAFF	chr11:72498838-72499048	K562	blood:	n/a	n/a
30	BHLHE40	chr11:72498292-72499556	K562	blood:	n/a	n/a
31	ZEB1	chr11:72496948-72499159	HepG2	liver:	n/a	chr11:72498543-72498551 chr11:72498471-72498480
32	POLR2A	chr11:72498151-72499574	K562	blood:	n/a	n/a
33	CTCF	chr11:72498900-72499050	GM12865	blood:	n/a	n/a
34	POLR2A	chr11:72498166-72499573	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72498324..72499997-chr11:72526151..72527916,2	K562	blood:
2	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
3	chr11:72467563..72470218-chr11:72497187..72500008,4	K562	blood:
4	chr11:72498256..72500264-chr11:72897078..72899164,2	MCF-7	breast:
5	chr11:72490152..72495824-chr11:72496679..72500356,10	K562	blood:
6	chr11:72459780..72464369-chr11:72496820..72501695,6	MCF-7	breast:

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: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10793048	0.80[CHB][hapmap]
rs10898885	0.80[CHB][hapmap]
rs11235620	0.80[CHB][hapmap]
rs11822039	0.80[CHB][hapmap]
rs12795307	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4400839	0.80[CHB][hapmap]
rs481206	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944014	0.82[ASN][1000 genomes]
rs4944016	0.80[CHB][hapmap]
rs4944804	0.88[CEU][hapmap]
rs519790	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs593753	0.80[CHB][hapmap]
rs7946861	0.84[CHB][hapmap]

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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs663015	STARD10	cis	Thyroid	GTEx
rs663015	STARD10	cis	Artery Tibial	GTEx
rs663015	STARD10	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72493400-72499200	Weak transcription	Hela-S3	cervix
2	chr11:72493400-72500200	Weak transcription	Osteobl	bone
3	chr11:72493600-72499200	Weak transcription	Left Ventricle	heart
4	chr11:72493600-72500400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:72493600-72502400	Enhancers	Stomach Mucosa	stomach
6	chr11:72493800-72499400	Weak transcription	Right Ventricle	heart
7	chr11:72493800-72500400	Weak transcription	A549	lung
8	chr11:72493800-72500600	Weak transcription	Brain Substantia Nigra	brain
9	chr11:72493800-72501200	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:72493800-72503200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:72493800-72503600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:72493800-72504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:72493800-72504200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:72494000-72500000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:72494000-72500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:72494000-72500200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:72494000-72500400	Weak transcription	Brain Angular Gyrus	brain
18	chr11:72494000-72503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:72494000-72503600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr11:72494000-72504400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:72494000-72504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:72494200-72501800	Enhancers	Fetal Intestine Large	intestine
23	chr11:72494200-72503400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:72494600-72499800	Enhancers	Colonic Mucosa	Colon
25	chr11:72494600-72500200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:72494800-72500200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr11:72495000-72500600	Weak transcription	Fetal Brain Male	brain
28	chr11:72496000-72501400	Enhancers	Placenta	Placenta
29	chr11:72496800-72499400	Enhancers	Pancreas	Pancrea
30	chr11:72496800-72499600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr11:72497000-72499600	Enhancers	Fetal Lung	lung
32	chr11:72497000-72499800	Enhancers	Lung	lung
33	chr11:72497000-72501200	Enhancers	Gastric	stomach
34	chr11:72497200-72499400	Enhancers	Fetal Thymus	thymus
35	chr11:72497200-72499600	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:72497200-72500800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:72497200-72501200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr11:72497400-72499200	Flanking Active TSS	HepG2	liver
39	chr11:72497400-72499400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr11:72497400-72500000	Enhancers	Primary hematopoietic stem cells	blood
41	chr11:72497400-72500400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:72497600-72499200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:72497600-72499400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:72497600-72499400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr11:72497600-72499600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:72497600-72499600	Enhancers	Spleen	Spleen
47	chr11:72497800-72499200	Weak transcription	Esophagus	oesophagus
48	chr11:72497800-72499200	Flanking Active TSS	GM12878-XiMat	blood
49	chr11:72497800-72500200	Enhancers	Primary B cells from cord blood	blood
50	chr11:72498000-72499400	Enhancers	Brain Germinal Matrix	brain

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