Variant report

Variant	rs17148183
Chromosome Location	chr11:67125451-67125452
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	USF2	chr11:67125356-67125658	Hela-S3	cervix:	n/a	n/a
2	NFIC	chr11:67125295-67126205	ECC-1	luminal epithelium:	n/a	chr11:67125844-67125860 chr11:67125832-67125860 chr11:67125843-67125860 chr11:67125842-67125870
3	SMARCC1	chr11:67123934-67125741	Hela-S3	cervix:	n/a	chr11:67124890-67124899
4	CHD1	chr11:67123825-67126117	IMR90	lung:	n/a	n/a
5	FOSL2	chr11:67125376-67125649	A549	lung:	n/a	chr11:67125486-67125493 chr11:67125485-67125495 chr11:67125484-67125496 chr11:67125485-67125495 chr11:67125486-67125495
6	POLR2A	chr11:67125264-67125724	HCT-116	colon:	n/a	n/a
7	FOS	chr11:67125301-67125651	MCF10A-Er-Src	breast:	n/a	chr11:67125486-67125493 chr11:67125485-67125495 chr11:67125484-67125495 chr11:67125484-67125496 chr11:67125485-67125495 chr11:67125486-67125495
8	JUND	chr11:67125253-67125666	Hela-S3	cervix:	n/a	chr11:67125484-67125495 chr11:67125486-67125493 chr11:67125485-67125495 chr11:67125484-67125496 chr11:67125485-67125495 chr11:67125486-67125495
9	JUND	chr11:67124075-67125948	SK-N-SH	brain:	n/a	chr11:67124889-67124899 chr11:67124506-67124517 chr11:67124890-67124898 chr11:67125484-67125495 chr11:67125484-67125496 chr11:67124889-67124899 chr11:67125485-67125495 chr11:67124889-67124899 chr11:67124780-67124791 chr11:67125486-67125493 chr11:67125486-67125495 chr11:67124889-67124899 chr11:67125485-67125495
10	POLR2A	chr11:67124235-67125700	U87	brain:	n/a	n/a
11	FOS	chr11:67125309-67125659	MCF10A-Er-Src	breast:	n/a	chr11:67125486-67125493 chr11:67125485-67125495 chr11:67125484-67125495 chr11:67125484-67125496 chr11:67125485-67125495 chr11:67125486-67125495
12	POLR2A	chr11:67124123-67125700	U87	brain:	n/a	n/a
13	RCOR1	chr11:67125261-67125707	Hela-S3	cervix:	n/a	n/a
14	RFX5	chr11:67125404-67125641	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:67119871-67126178	U87	brain:	n/a	n/a
16	MYC	chr11:67125435-67125607	MCF10A-Er-Src	breast:	n/a	n/a
17	SP1	chr11:67124216-67125668	A549	lung:	n/a	chr11:67124471-67124478
18	POLR2A	chr11:67119865-67126303	U87	brain:	n/a	n/a
19	TCF7L2	chr11:67125369-67125673	Hela-S3	cervix:	n/a	chr11:67125485-67125494
20	TCF12	chr11:67123767-67125872	A549	lung:	n/a	chr11:67124505-67124512
21	STAT3	chr11:67125238-67125459	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:67125318-67126052	SK-N-SH	brain:	n/a	n/a
23	NFIC	chr11:67125176-67126162	SK-N-SH	brain:	n/a	chr11:67125844-67125860 chr11:67125832-67125860 chr11:67125843-67125860 chr11:67125842-67125870
24	MAX	chr11:67124214-67125757	A549	lung:	n/a	chr11:67125154-67125164
25	FOSL2	chr11:67124156-67125759	A549	lung:	n/a	chr11:67125486-67125493 chr11:67124889-67124899 chr11:67124780-67124791 chr11:67125485-67125495 chr11:67124889-67124899 chr11:67125484-67125496 chr11:67124889-67124899 chr11:67124890-67124898 chr11:67125485-67125495 chr11:67125486-67125495 chr11:67124506-67124517 chr11:67124889-67124899
26	BCL3	chr11:67125086-67126080	A549	lung:	n/a	chr11:67125485-67125494
27	MAX	chr11:67124214-67125835	A549	lung:	n/a	chr11:67125154-67125164
28	JUND	chr11:67125406-67125519	HepG2	liver:	n/a	chr11:67125484-67125495 chr11:67125486-67125493 chr11:67125485-67125495 chr11:67125484-67125496 chr11:67125485-67125495 chr11:67125486-67125495
29	FOS	chr11:67125320-67125651	MCF10A-Er-Src	breast:	n/a	chr11:67125486-67125493 chr11:67125485-67125495 chr11:67125484-67125495 chr11:67125484-67125496 chr11:67125485-67125495 chr11:67125486-67125495
30	SMC3	chr11:67125339-67125646	Hela-S3	cervix:	n/a	n/a
31	FOSL2	chr11:67125197-67125869	SK-N-SH	brain:	n/a	chr11:67125486-67125493 chr11:67125485-67125495 chr11:67125484-67125496 chr11:67125485-67125495 chr11:67125486-67125495
32	FOS	chr11:67125362-67125645	MCF10A-Er-Src	breast:	n/a	chr11:67125486-67125493 chr11:67125485-67125495 chr11:67125484-67125495 chr11:67125484-67125496 chr11:67125485-67125495 chr11:67125486-67125495
33	CTCF	chr11:67124083-67125586	A549	lung:	n/a	chr11:67124502-67124511 chr11:67124499-67124517 chr11:67124501-67124522 chr11:67124755-67124764
34	MYC	chr11:67125374-67125574	MCF10A-Er-Src	breast:	n/a	n/a
35	JUND	chr11:67125240-67125726	A549	lung:	n/a	chr11:67125484-67125495 chr11:67125486-67125493 chr11:67125485-67125495 chr11:67125484-67125496 chr11:67125485-67125495 chr11:67125486-67125495
36	MAFK	chr11:67125235-67125596	Hela-S3	cervix:	n/a	n/a
37	BCL3	chr11:67124120-67126027	A549	lung:	n/a	chr11:67125485-67125494
38	FOS	chr11:67124403-67125709	HUVEC	blood vessel:	n/a	chr11:67125486-67125493 chr11:67124889-67124899 chr11:67124780-67124791 chr11:67125485-67125495 chr11:67125484-67125495 chr11:67124889-67124899 chr11:67125484-67125496 chr11:67124889-67124899 chr11:67124890-67124898 chr11:67125485-67125495 chr11:67125486-67125495 chr11:67124506-67124517 chr11:67124889-67124899

No.	Distal block	Cell Line	Cell type
1	chr11:67032700..67034613-chr11:67124238..67125805,2	K562	blood:
2	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
3	chr11:67119765..67126816-chr11:67129168..67134805,10	K562	blood:
4	chr11:67123845..67125865-chr11:67186294..67189193,2	K562	blood:
5	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
6	chr11:67124441..67126848-chr11:67209187..67211107,2	K562	blood:
7	chr11:67125141..67127010-chr11:67159521..67163244,3	K562	blood:
8	chr11:67075683..67087551-chr11:67114391..67125856,27	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAD9A-4	chr11:67121054-67126866	NONHSAT022409

Variant related genes	Relation type
POLD4	TF binding region
RN7SKP239	TF binding region
ENSG00000172508	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000253024	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000201684	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000175505	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12279818	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285097	0.87[AMR][1000 genomes]
rs12417116	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12417429	1.00[EUR][1000 genomes]
rs12417770	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12418407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12420556	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs12420763	1.00[JPT][hapmap]
rs12421018	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12421536	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs1573536	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes]
rs1574103	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes]
rs17148080	1.00[JPT][hapmap]
rs17880138	0.93[ASN][1000 genomes]
rs17884022	1.00[EUR][1000 genomes]
rs17885585	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1871033	1.00[EUR][1000 genomes]
rs1871044	1.00[EUR][1000 genomes]
rs2066494	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28364240	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3730140	1.00[CHB][hapmap];0.88[AMR][1000 genomes]
rs4382915	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4567468	0.87[AMR][1000 genomes]
rs4930198	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4930415	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs4930416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs4930432	1.00[CHB][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4930435	1.00[EUR][1000 genomes]
rs61731786	0.92[AMR][1000 genomes]
rs61758493	0.85[AMR][1000 genomes]
rs61759803	0.85[AMR][1000 genomes]
rs61759806	0.85[AMR][1000 genomes]
rs7396248	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes]
rs868167	0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs885833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes]
rs887315	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs887316	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs887318	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67121000-67126000	Enhancers	Spleen	Spleen
2	chr11:67121600-67125800	Enhancers	Fetal Muscle Trunk	muscle
3	chr11:67121600-67126200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:67121600-67126400	Enhancers	Placenta	Placenta
5	chr11:67121600-67132600	Weak transcription	Fetal Brain Female	brain
6	chr11:67121800-67125600	Enhancers	Adipose Nuclei	Adipose
7	chr11:67121800-67125800	Enhancers	Fetal Intestine Large	intestine
8	chr11:67121800-67126000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:67121800-67126000	Enhancers	Right Atrium	heart
10	chr11:67121800-67126000	Enhancers	NHEK	skin
11	chr11:67121800-67126200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:67121800-67126200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:67121800-67126200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:67121800-67126200	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:67121800-67126200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:67121800-67126200	Enhancers	Fetal Muscle Leg	muscle
17	chr11:67121800-67126200	Enhancers	Fetal Stomach	stomach
18	chr11:67121800-67126200	Enhancers	HMEC	breast
19	chr11:67121800-67126600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:67121800-67132800	Weak transcription	Fetal Brain Male	brain
21	chr11:67122000-67126000	Enhancers	NHDF-Ad	bronchial
22	chr11:67122200-67125600	Enhancers	Brain Hippocampus Middle	brain
23	chr11:67122200-67126000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:67122200-67126200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:67122600-67125600	Enhancers	HUVEC	blood vessel
26	chr11:67122600-67126000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:67122600-67126200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:67122600-67126200	Enhancers	NHLF	lung
29	chr11:67122600-67126800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:67122600-67128000	Weak transcription	Primary T cells from cord blood	blood
31	chr11:67122800-67125800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:67122800-67125800	Enhancers	K562	blood
33	chr11:67122800-67126000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr11:67122800-67126800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:67123000-67126000	Enhancers	HSMM	muscle
36	chr11:67123200-67126000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:67123400-67131800	Weak transcription	Aorta	Aorta
38	chr11:67123600-67126800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:67123800-67125600	Enhancers	Brain Anterior Caudate	brain
40	chr11:67123800-67126000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr11:67124000-67125600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:67124000-67126000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr11:67124000-67126000	Enhancers	HSMMtube	muscle
44	chr11:67124200-67125800	Enhancers	Brain Substantia Nigra	brain
45	chr11:67124200-67126000	Enhancers	Fetal Lung	lung
46	chr11:67124200-67126200	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr11:67124200-67126200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:67124400-67125800	Enhancers	Fetal Intestine Small	intestine
49	chr11:67124400-67125800	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:67124400-67126000	Enhancers	Rectal Mucosa Donor 29	rectum

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