Variant report

Variant	rs1126205
Chromosome Location	chr11:72523794-72523795
allele	A/C
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	POLR2A	chr11:72523148-72527053	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:72523665-72527030	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:72523591-72526356	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:72523701-72527157	HL-60	blood:	n/a	n/a
5	RELA	chr11:72523793-72527038	GM12891	blood:	n/a	n/a
6	EBF1	chr11:72523722-72524730	GM12878	blood:	n/a	chr11:72524376-72524386 chr11:72524375-72524386 chr11:72524375-72524388 chr11:72524377-72524386
7	ATF2	chr11:72523707-72524642	GM12878	blood:	n/a	n/a
8	WRNIP1	chr11:72523611-72524511	GM12878	blood:	n/a	n/a
9	CHD1	chr11:72523589-72526562	IMR90	lung:	n/a	chr11:72525660-72525670
10	FOXA1	chr11:72523612-72523861	T-47D	breast:	n/a	n/a
11	MXI1	chr11:72523716-72526356	Hela-S3	cervix:	n/a	n/a
12	REST	chr11:72523593-72525363	A549	lung:	n/a	chr11:72525027-72525040
13	POLR2A	chr11:72523753-72526402	GM12891	blood:	n/a	n/a
14	CREB1	chr11:72523756-72524440	A549	lung:	n/a	n/a
15	FOSL2	chr11:72523532-72524391	A549	lung:	n/a	n/a
16	EP300	chr11:72523626-72524732	GM12878	blood:	n/a	n/a
17	MXI1	chr11:72523557-72526569	SK-N-SH	brain:	n/a	n/a
18	PML	chr11:72523537-72527195	GM12878	blood:	n/a	n/a
19	KAP1	chr11:72523621-72524402	U2OS	brain:	n/a	n/a
20	TCF12	chr11:72523700-72526334	A549	lung:	n/a	chr11:72524416-72524426 chr11:72526221-72526231 chr11:72523825-72523832 chr11:72524999-72525009
21	MAX	chr11:72523642-72526406	A549	lung:	n/a	chr11:72525182-72525191 chr11:72523838-72523847
22	POLR2A	chr11:72523633-72528112	HL-60	blood:	n/a	n/a
23	MAX	chr11:72523763-72526380	Hela-S3	cervix:	n/a	chr11:72525182-72525191 chr11:72523838-72523847
24	MYBL2	chr11:72523704-72524390	HepG2	liver:	n/a	n/a
25	SIN3AK20	chr11:72523621-72524418	A549	lung:	n/a	n/a
26	POLR2A	chr11:72523216-72526210	MCF10A-Er-Src	breast:	n/a	n/a
27	SMARCC1	chr11:72523718-72525063	Hela-S3	cervix:	n/a	n/a
28	MYC	chr11:72523728-72525696	MCF10A-Er-Src	breast:	n/a	chr11:72525182-72525191 chr11:72523838-72523847
29	POLR2A	chr11:72523781-72527040	GM19099	blood:	n/a	n/a
30	MTA3	chr11:72523531-72525117	GM12878	blood:	n/a	n/a
31	JUND	chr11:72523780-72526411	SK-N-SH	brain:	n/a	chr11:72525390-72525399
32	BCL3	chr11:72523656-72526078	A549	lung:	n/a	chr11:72525377-72525386 chr11:72525385-72525394 chr11:72525383-72525396 chr11:72525124-72525133 chr11:72525386-72525399 chr11:72525809-72525822 chr11:72525119-72525132
33	MAX	chr11:72523761-72526258	A549	lung:	n/a	chr11:72525182-72525191 chr11:72523838-72523847
34	YY1	chr11:72523605-72524332	GM12892	blood:	n/a	n/a
35	RAD21	chr11:72523779-72524435	A549	lung:	n/a	chr11:72524254-72524263 chr11:72523814-72523833
36	POLR2A	chr11:72523590-72526397	GM12892	blood:	n/a	n/a
37	SIN3AK20	chr11:72523651-72526549	MCF-7	breast:	n/a	n/a
38	PBX3	chr11:72523741-72523924	GM12878	blood:	n/a	n/a
39	CTCF	chr11:72523547-72526464	SK-N-SH	brain:	n/a	chr11:72525394-72525410 chr11:72525396-72525406 chr11:72524254-72524264 chr11:72525395-72525408
40	SP1	chr11:72523694-72526193	A549	lung:	n/a	chr11:72525758-72525770 chr11:72525426-72525435 chr11:72525758-72525770 chr11:72525157-72525169 chr11:72525157-72525169 chr11:72525426-72525435 chr11:72525391-72525403 chr11:72525393-72525402 chr11:72525159-72525168 chr11:72525425-72525437 chr11:72525425-72525437 chr11:72524405-72524419 chr11:72525391-72525403 chr11:72525158-72525167 chr11:72525427-72525436
41	MTA3	chr11:72523587-72527148	GM12878	blood:	n/a	n/a
42	JUN	chr11:72523488-72527139	K562	blood:	n/a	chr11:72526474-72526485 chr11:72526553-72526562 chr11:72526539-72526548 chr11:72525390-72525399
43	CTCF	chr11:72523518-72526489	A549	lung:	n/a	chr11:72525394-72525410 chr11:72525396-72525406 chr11:72524254-72524264 chr11:72525395-72525408
44	POLR2A	chr11:72523765-72526385	GM12891	blood:	n/a	n/a
45	SP1	chr11:72523738-72524672	A549	lung:	n/a	chr11:72524405-72524419
46	POLR2A	chr11:72523768-72526365	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:72523519-72527121	GM12878	blood:	n/a	n/a
48	GTF2F1	chr11:72523729-72525290	Hela-S3	cervix:	n/a	n/a
49	NFATC1	chr11:72523705-72524274	GM12878	blood:	n/a	n/a
50	MAX	chr11:72523650-72526330	HepG2	liver:	n/a	chr11:72525182-72525191 chr11:72523838-72523847

No.	Distal block	Cell Line	Cell type
1	chr11:72434436..72438940-chr11:72523674..72527576,8	MCF-7	breast:
2	chr11:72503176..72507418-chr11:72523751..72527635,5	MCF-7	breast:
3	chr11:72490395..72495168-chr11:72521187..72527739,13	MCF-7	breast:
4	chr11:72474113..72475649-chr11:72522703..72524985,2	MCF-7	breast:
5	chr11:72507503..72509715-chr11:72521788..72523914,2	MCF-7	breast:
6	chr11:72395003..72395663-chr11:72523411..72524058,2	MCF-7	breast:
7	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
8	chr11:72460411..72465058-chr11:72522153..72526935,8	MCF-7	breast:
9	chr11:72509949..72511475-chr11:72523003..72524879,2	MCF-7	breast:
10	chr11:72523752..72525675-chr11:72852917..72854760,2	K562	blood:
11	chr11:72432071..72434614-chr11:72523637..72525908,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STARD10-1	chr11:72523678-72524260	XLOC_009498
2	lnc-STARD10-1	chr11:72523491-72525129	NONHSAT022801

Variant related genes	Relation type
ATG16L2	TF binding region
ENSG00000186635	Chromatin interaction
ENSG00000214530	Chromatin interaction
ENSG00000265064	Chromatin interaction
ENSG00000137478	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10793055	0.92[ASW][hapmap]
rs10898872	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235595	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235597	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235612	0.84[ASW][hapmap]
rs12418930	0.86[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap]
rs3765638	0.86[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs4456279	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs577217	0.85[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61894194	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7936751	0.84[ASW][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1126205	STARD10	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72506000-72523800	Weak transcription	Spleen	Spleen
2	chr11:72506200-72523800	Weak transcription	Brain Anterior Caudate	brain
3	chr11:72509800-72523800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:72509800-72523800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:72510000-72523800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:72510000-72523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:72510200-72523800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:72510400-72523800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:72513800-72523800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:72517200-72523800	Weak transcription	Aorta	Aorta
11	chr11:72518600-72523800	Weak transcription	Ovary	ovary
12	chr11:72519400-72523800	Weak transcription	Fetal Brain Female	brain
13	chr11:72519800-72523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr11:72520600-72523800	Weak transcription	Gastric	stomach
15	chr11:72520800-72523800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:72521200-72524600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr11:72522000-72523800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:72522000-72523800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:72522200-72524200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:72522200-72524600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr11:72522800-72523800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr11:72522800-72523800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:72523000-72523800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr11:72523000-72523800	Weak transcription	Pancreas	Pancrea
25	chr11:72523000-72523800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:72523000-72523800	Active TSS	GM12878-XiMat	blood
27	chr11:72523000-72524200	Enhancers	Fetal Muscle Trunk	muscle
28	chr11:72523000-72524800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr11:72523000-72525000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:72523000-72525200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:72523200-72523800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr11:72523200-72523800	Enhancers	Fetal Thymus	thymus
33	chr11:72523200-72524000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:72523200-72524200	Enhancers	Small Intestine	intestine
35	chr11:72523200-72525000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:72523200-72525000	Flanking Active TSS	Hela-S3	cervix
37	chr11:72523200-72525000	Flanking Active TSS	NHEK	skin
38	chr11:72523200-72527200	Active TSS	Primary monocytes fromperipheralblood	blood
39	chr11:72523400-72523800	Enhancers	Left Ventricle	heart
40	chr11:72523400-72523800	Enhancers	Lung	lung
41	chr11:72523600-72523800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:72523600-72523800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:72523600-72523800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:72523600-72523800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:72523600-72523800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:72523600-72523800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:72523600-72523800	Enhancers	Primary B cells from peripheral blood	blood
48	chr11:72523600-72523800	Enhancers	Primary T cells from cord blood	blood
49	chr11:72523600-72523800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr11:72523600-72523800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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