Variant report

Variant	rs538429
Chromosome Location	chr10:43251146-43251147
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	POLR2A	chr10:43251142-43251158	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:43250283..43253153-chr10:43277432..43279955,3	MCF-7	breast:
2	chr10:43250846..43253793-chr10:43254051..43256963,2	K562	blood:

Variant related genes	Relation type
ENSG00000259869	TF binding region
ENSG00000165733	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11819259	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs493230	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs507485	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56213617	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61844769	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs671429	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs694439	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	esv2764213	chr10:43183225-43251704	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1036317	chr10:43189367-43253587	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1045347	chr10:43197101-43253587	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv1045144	chr10:43202223-43251692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1047398	chr10:43202223-43253587	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv1044275	chr10:43207270-43253587	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv550694	chr10:43218552-43253587	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv895076	chr10:43234432-43326627	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1047838	chr10:43234590-43379219	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
20	nsv8626	chr10:43235537-43263641	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv825349	chr10:43238099-43265011	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43248200-43251200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
2	chr10:43248400-43251200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr10:43248400-43251400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:43248400-43251400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr10:43248600-43251600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr10:43249000-43251400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:43249000-43251400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
8	chr10:43249200-43251200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr10:43249800-43251400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
10	chr10:43250000-43251400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr10:43250200-43251200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr10:43250200-43251200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr10:43250200-43251400	Bivalent Enhancer	Placenta	Placenta
14	chr10:43250400-43251200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr10:43250400-43251400	Flanking Active TSS	Pancreas	Pancrea
16	chr10:43250600-43251200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr10:43250600-43251400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr10:43250800-43251200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:43250800-43251200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
20	chr10:43250800-43251200	Bivalent Enhancer	Fetal Heart	heart
21	chr10:43250800-43251200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
22	chr10:43250800-43251200	Bivalent Enhancer	Psoas Muscle	Psoas
23	chr10:43250800-43251200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
24	chr10:43250800-43251400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr10:43250800-43251400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr10:43250800-43251400	Enhancers	Lung	lung
27	chr10:43250800-43251400	Bivalent Enhancer	Ovary	ovary
28	chr10:43250800-43251800	Enhancers	Spleen	Spleen
29	chr10:43251000-43251200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr10:43251000-43251200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:43251000-43251200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
32	chr10:43251000-43251200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr10:43251000-43251200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr10:43251000-43251200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
35	chr10:43251000-43251200	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
36	chr10:43251000-43251200	Bivalent Enhancer	Esophagus	oesophagus
37	chr10:43251000-43251400	Bivalent Enhancer	Right Ventricle	heart
38	chr10:43251000-43254000	Weak transcription	Right Atrium	heart
39	chr10:43251000-43259600	Weak transcription	Gastric	stomach

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