Variant report

Variant	rs149350
Chromosome Location	chr10:43136411-43136412
allele	A/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	FOS	chr10:43136259-43136792	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr10:43136114-43136754	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr10:43136301-43137099	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr10:43136154-43136801	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr10:43136238-43136811	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr10:43135725-43136649	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr10:43136261-43136680	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F6	chr10:43136357-43136542	K562	blood:	n/a	n/a
9	HA-E2F1	chr10:43136227-43136639	MCF-7	breast:	n/a	n/a
10	E2F6	chr10:43136344-43136613	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr10:43135923-43136777	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr10:43135861-43137075	MCF10A-Er-Src	breast:	n/a	chr10:43136747-43136756
13	FOXA1	chr10:43136314-43136685	T-47D	breast:	n/a	chr10:43136512-43136527
14	FOXA2	chr10:43136285-43136773	A549	lung:	n/a	n/a
15	E2F6	chr10:43136178-43136737	H1-hESC	embryonic stem cell:	n/a	n/a
16	STAT3	chr10:43136257-43136802	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr10:43136291-43136666	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr10:43136265-43136752	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr10:43136216-43136791	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr10:43136258-43136782	MCF10A-Er-Src	breast:	n/a	n/a
21	FOXA1	chr10:43136313-43136686	T-47D	breast:	n/a	chr10:43136512-43136527

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43132020..43136600-chr10:43277441..43279853,5	MCF-7	breast:
2	chr10:43132026..43134878-chr10:43134908..43136583,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272373	TF binding region
ZNF33B	TF binding region
ENSG00000196693	Chromatin interaction
ENSG00000272373	Chromatin interaction
ENSG00000165733	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10490937	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11239687	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs158367	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs158368	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs158370	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs158371	0.91[ASN][1000 genomes]
rs158372	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs158374	0.88[ASN][1000 genomes]
rs158380	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs158381	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs158383	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs158387	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1807366	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs209382	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs209383	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs209384	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs289184	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs289185	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs289189	0.97[ASN][1000 genomes]
rs289190	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs289191	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs289192	0.97[ASN][1000 genomes]
rs491625	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs504209	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs521852	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs535169	0.95[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs594295	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs615096	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs626062	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs655987	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs787311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7924018	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817455	chr10:42607635-43151812	Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv895064	chr10:42783481-43243325	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv533331	chr10:42830221-43356410	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	nsv469725	chr10:42965130-43178323	Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv482513	chr10:42965130-43178323	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	esv2757381	chr10:43104068-43352995	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
14	esv34929	chr10:43116194-43329770	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43134400-43141600	Weak transcription	Gastric	stomach
2	chr10:43134600-43138400	Enhancers	Fetal Intestine Small	intestine
3	chr10:43134600-43140200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:43134600-43142200	Weak transcription	Aorta	Aorta
5	chr10:43134800-43137000	Weak transcription	A549	lung
6	chr10:43134800-43137600	Enhancers	Fetal Intestine Large	intestine
7	chr10:43134800-43141600	Weak transcription	Fetal Kidney	kidney
8	chr10:43134800-43143200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:43135200-43140000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr10:43135200-43141800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:43135200-43145600	Weak transcription	Primary T cells from cord blood	blood
12	chr10:43135400-43140000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:43135800-43136800	Enhancers	Liver	Liver
14	chr10:43136000-43136600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr10:43136000-43137200	Enhancers	NHEK	skin
16	chr10:43136000-43137400	Enhancers	K562	blood
17	chr10:43136200-43136800	Enhancers	HepG2	liver
18	chr10:43136200-43137200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:43136200-43137200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr10:43136200-43137400	Enhancers	Placenta	Placenta
21	chr10:43136200-43137600	Enhancers	Pancreas	Pancrea
22	chr10:43136200-43137600	Enhancers	Stomach Mucosa	stomach
23	chr10:43136400-43137000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr10:43136400-43137200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr10:43136400-43137600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:43136400-43137600	Active TSS	Rectal Mucosa Donor 29	rectum

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