Variant report

Variant	rs3758948
Chromosome Location	chr11:17501100-17501101
allele	A/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	SP1	chr11:17501017-17501489	A549	lung:	n/a	chr11:17501298-17501308 chr11:17501298-17501308 chr11:17501326-17501333
2	SP1	chr11:17501030-17501599	H1-hESC	embryonic stem cell:	n/a	chr11:17501298-17501308 chr11:17501298-17501308 chr11:17501326-17501333
3	GTF2F1	chr11:17501066-17501369	H1-hESC	embryonic stem cell:	n/a	n/a
4	ELF1	chr11:17501065-17501352	K562	blood:	n/a	chr11:17501259-17501270
5	YY1	chr11:17501079-17501514	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr11:17501007-17501453	H1-hESC	embryonic stem cell:	n/a	n/a
7	SP1	chr11:17501011-17501434	HepG2	liver:	n/a	chr11:17501298-17501308 chr11:17501298-17501308 chr11:17501326-17501333
8	KAP1	chr11:17500990-17501600	U2OS	brain:	n/a	n/a
9	SP4	chr11:17500986-17501545	H1-hESC	embryonic stem cell:	n/a	chr11:17501295-17501311
10	ELF1	chr11:17500997-17501476	MCF-7	breast:	n/a	chr11:17501259-17501270
11	ATF2	chr11:17500985-17501478	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUND	chr11:17501086-17501768	H1-hESC	embryonic stem cell:	n/a	chr11:17501599-17501608
13	SP1	chr11:17500872-17501807	HCT-116	colon:	n/a	chr11:17501298-17501308 chr11:17501298-17501308 chr11:17501326-17501333
14	YY1	chr11:17501089-17501388	SK-N-SH_RA	brain:	n/a	n/a
15	CREB1	chr11:17501081-17501454	A549	lung:	n/a	n/a
16	SP1	chr11:17500917-17501545	A549	lung:	n/a	chr11:17501298-17501308 chr11:17501298-17501308 chr11:17501326-17501333
17	JUND	chr11:17501095-17501378	H1-hESC	embryonic stem cell:	n/a	n/a
18	YY1	chr11:17501039-17501407	H1-hESC	embryonic stem cell:	n/a	n/a
19	SIN3A	chr11:17501039-17501472	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr11:17501065-17501341	SK-N-SH_RA	brain:	n/a	n/a
21	SP4	chr11:17501096-17501457	H1-hESC	embryonic stem cell:	n/a	chr11:17501295-17501311
22	YY1	chr11:17501063-17501375	SK-N-SH_RA	brain:	n/a	n/a
23	KAP1	chr11:17500701-17501650	HEK293	kidney:	n/a	n/a
24	SP1	chr11:17500891-17501661	H1-hESC	embryonic stem cell:	n/a	chr11:17501298-17501308 chr11:17501298-17501308 chr11:17501326-17501333
25	RFX5	chr11:17501078-17501417	H1-hESC	embryonic stem cell:	n/a	n/a
26	JUND	chr11:17501086-17501427	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF2	chr11:17501035-17501466	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:17494629..17496394-chr11:17499346..17501240,2	MCF-7	breast:
2	chr11:17499490..17502461-chr11:17527268..17529480,2	MCF-7	breast:
3	chr11:17408350..17411098-chr11:17499299..17501931,2	MCF-7	breast:
4	chr11:17497229..17500378-chr11:17500766..17504447,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OTOG-1	chr11:17498779-17503911	NONHSAT018236

Variant related genes	Relation type
ABCC8	TF binding region
ENSG00000187486	Chromatin interaction
ENSG00000006071	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10832793	0.83[ASN][1000 genomes]
rs11024303	0.89[AFR][1000 genomes]
rs11603988	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11823850	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2072229	1.00[CEU][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2270023	0.89[CEU][hapmap];0.86[AMR][1000 genomes]
rs3758947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66902740	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17498800-17502000	Enhancers	Dnd41	blood
2	chr11:17500400-17501400	Flanking Active TSS	Brain Substantia Nigra	brain
3	chr11:17500600-17501200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:17500600-17501200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:17500600-17501600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:17500600-17501600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:17500600-17501800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:17500600-17502000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr11:17500800-17501200	Bivalent Enhancer	Fetal Intestine Large	intestine
10	chr11:17500800-17501200	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr11:17500800-17501200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:17500800-17501200	Enhancers	Psoas Muscle	Psoas
13	chr11:17500800-17501200	Enhancers	Right Ventricle	heart
14	chr11:17500800-17502000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:17501000-17501200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
16	chr11:17501000-17501200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:17501000-17501200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:17501000-17501200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr11:17501000-17501200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr11:17501000-17501200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr11:17501000-17501200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr11:17501000-17501200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr11:17501000-17501200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr11:17501000-17501200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr11:17501000-17501200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:17501000-17501200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr11:17501000-17501200	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr11:17501000-17501200	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr11:17501000-17501200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
30	chr11:17501000-17501200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:17501000-17501200	Bivalent Enhancer	Fetal Kidney	kidney
32	chr11:17501000-17501200	Bivalent Enhancer	Fetal Lung	lung
33	chr11:17501000-17501200	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr11:17501000-17501200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:17501000-17501200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
36	chr11:17501000-17501200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr11:17501000-17501200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
38	chr11:17501000-17501400	Active TSS	Brain Angular Gyrus	brain
39	chr11:17501000-17501400	Active TSS	Brain Anterior Caudate	brain
40	chr11:17501000-17501400	Active TSS	Brain Cingulate Gyrus	brain
41	chr11:17501000-17501400	Active TSS	Brain Hippocampus Middle	brain
42	chr11:17501000-17501400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr11:17501000-17501400	Active TSS	Fetal Brain Male	brain
44	chr11:17501000-17501400	Active TSS	Fetal Brain Female	brain
45	chr11:17501000-17501600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
46	chr11:17501000-17501600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr11:17501000-17501600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr11:17501000-17501600	Enhancers	Gastric	stomach
49	chr11:17501000-17501600	Enhancers	Left Ventricle	heart
50	chr11:17501000-17501600	Enhancers	Pancreas	Pancrea

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