Variant report

Variant	rs11070301
Chromosome Location	chr15:41171385-41171386
allele	C/G
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	CREB1	chr15:41170923-41171454	GM12878	blood:	n/a	n/a
2	FOS	chr15:41170996-41171397	Hela-S3	cervix:	n/a	chr15:41171179-41171189 chr15:41171178-41171189 chr15:41171179-41171188 chr15:41171180-41171189
3	RELA	chr15:41171001-41171395	GM18505	blood:	n/a	n/a
4	STAT3	chr15:41171020-41171397	Hela-S3	cervix:	n/a	chr15:41171180-41171189 chr15:41171155-41171163 chr15:41171238-41171249
5	FOS	chr15:41170764-41171482	MCF10A-Er-Src	breast:	n/a	chr15:41171179-41171189 chr15:41171178-41171189 chr15:41171179-41171188 chr15:41171180-41171189
6	MTA3	chr15:41170780-41171453	GM12878	blood:	n/a	n/a
7	EBF1	chr15:41170964-41171402	GM12878	blood:	n/a	n/a
8	MYC	chr15:41171121-41171477	MCF10A-Er-Src	breast:	n/a	chr15:41171179-41171188
9	JUND	chr15:41170725-41171402	Hela-S3	cervix:	n/a	chr15:41171179-41171189 chr15:41171179-41171188 chr15:41171180-41171189 chr15:41171178-41171189
10	NFIC	chr15:41170917-41171512	GM12878	blood:	n/a	n/a
11	RELA	chr15:41170998-41171393	GM18951	blood:	n/a	n/a
12	RELA	chr15:41171047-41171416	GM19099	blood:	n/a	n/a
13	STAT3	chr15:41170976-41171479	MCF10A-Er-Src	breast:	n/a	chr15:41171180-41171189 chr15:41171155-41171163 chr15:41171238-41171249
14	FOSL1	chr15:41170869-41171491	HCT-116	colon:	n/a	chr15:41171179-41171189 chr15:41171179-41171188 chr15:41171180-41171189
15	STAT3	chr15:41170996-41171490	MCF10A-Er-Src	breast:	n/a	chr15:41171180-41171189 chr15:41171155-41171163 chr15:41171238-41171249
16	PML	chr15:41170799-41171406	GM12878	blood:	n/a	chr15:41171178-41171187
17	FOS	chr15:41170775-41171460	MCF10A-Er-Src	breast:	n/a	chr15:41171179-41171189 chr15:41171178-41171189 chr15:41171179-41171188 chr15:41171180-41171189
18	RFX5	chr15:41170752-41171480	Hela-S3	cervix:	n/a	n/a
19	STAT3	chr15:41170943-41171474	MCF10A-Er-Src	breast:	n/a	chr15:41171180-41171189 chr15:41171155-41171163 chr15:41171238-41171249
20	JUN	chr15:41170941-41171528	K562	blood:	n/a	chr15:41171179-41171189 chr15:41171179-41171188 chr15:41171180-41171189
21	RFX5	chr15:41170898-41171431	GM12878	blood:	n/a	n/a
22	FOSL2	chr15:41170945-41171434	MCF-7	breast:	n/a	chr15:41171179-41171189 chr15:41171179-41171188 chr15:41171180-41171189
23	JUN	chr15:41170996-41171413	Hela-S3	cervix:	n/a	chr15:41171179-41171189 chr15:41171179-41171188 chr15:41171180-41171189
24	RELA	chr15:41170956-41171452	GM12891	blood:	n/a	n/a
25	SMC3	chr15:41171001-41171398	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr15:41170731-41171389	Hela-S3	cervix:	n/a	n/a
27	MYC	chr15:41171060-41171426	MCF10A-Er-Src	breast:	n/a	chr15:41171179-41171188
28	NFATC1	chr15:41170864-41171409	GM12878	blood:	n/a	n/a
29	FOS	chr15:41171000-41171407	MCF10A-Er-Src	breast:	n/a	chr15:41171179-41171189 chr15:41171178-41171189 chr15:41171179-41171188 chr15:41171180-41171189
30	STAT3	chr15:41171063-41171397	MCF10A-Er-Src	breast:	n/a	chr15:41171180-41171189 chr15:41171155-41171163 chr15:41171238-41171249
31	ATF2	chr15:41170914-41171467	GM12878	blood:	n/a	n/a
32	SMARCC1	chr15:41170508-41171411	Hela-S3	cervix:	n/a	chr15:41171179-41171188 chr15:41171180-41171189
33	EBF1	chr15:41170941-41171389	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41164548..41167013-chr15:41169741..41172530,3	K562	blood:
2	chr15:41136155..41137886-chr15:41171120..41173235,2	MCF-7	breast:
3	chr15:41149992..41152598-chr15:41170919..41172722,2	K562	blood:
4	chr15:41162670..41167834-chr15:41168515..41173358,14	MCF-7	breast:
5	chr15:41168787..41171767-chr15:41172329..41175308,2	MCF-7	breast:
6	chr15:41164565..41167944-chr15:41168228..41172256,5	K562	blood:
7	chr15:41148133..41159834-chr15:41169228..41175193,12	MCF-7	breast:

Variant related genes	Relation type
RHOV	TF binding region
ENSG00000264256	Chromatin interaction
ENSG00000104140	Chromatin interaction
ENSG00000166145	Chromatin interaction
ENSG00000261183	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11070303	0.91[EUR][1000 genomes]
rs12148515	0.91[EUR][1000 genomes]
rs601436	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs616606	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs618892	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs618916	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs682130	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7172280	0.82[ASN][1000 genomes]
rs7175294	0.95[EUR][1000 genomes]
rs8024861	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8024961	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569228	chr15:41106485-41194151	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41166800-41172400	Enhancers	Placenta	Placenta
2	chr15:41168400-41171600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:41170000-41171400	Flanking Active TSS	Hela-S3	cervix
4	chr15:41170000-41172200	Enhancers	GM12878-XiMat	blood
5	chr15:41170000-41172200	Enhancers	NHEK	skin
6	chr15:41170400-41172200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:41170600-41171600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:41170600-41171800	Enhancers	HMEC	breast
9	chr15:41170800-41171800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr15:41170800-41172000	Enhancers	Stomach Mucosa	stomach
11	chr15:41170800-41172200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:41170800-41172600	Enhancers	K562	blood
13	chr15:41171000-41171400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr15:41171000-41171400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:41171000-41171400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr15:41171000-41171400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr15:41171000-41171600	Enhancers	Fetal Thymus	thymus
18	chr15:41171000-41172000	Enhancers	Duodenum Mucosa	Duodenum
19	chr15:41171200-41171400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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