Variant report

Variant	rs12572583
Chromosome Location	chr10:43331510-43331511
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	TEAD4	chr10:43331453-43331910	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr10:43331493-43331723	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr10:43331491-43331920	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr10:43331491-43331900	H1-hESC	embryonic stem cell:	n/a	chr10:43331671-43331690

Variant related genes	Relation type
RNU6-885P	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12571675	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17158149	1.00[EUR][1000 genomes]
rs17158189	1.00[EUR][1000 genomes]
rs17158196	1.00[EUR][1000 genomes]
rs17158217	1.00[EUR][1000 genomes]
rs17158241	1.00[EUR][1000 genomes]
rs35945975	1.00[EUR][1000 genomes]
rs3758515	1.00[EUR][1000 genomes]
rs3758517	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61844826	1.00[EUR][1000 genomes];0.91[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	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	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
11	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
12	esv14695	chr10:43301539-43355457	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	2 gene(s)	inside rSNPs	diseases
13	nsv8627	chr10:43324929-43354934	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island miRNA target site	1 gene(s)	inside rSNPs	diseases
14	esv1842859	chr10:43327115-43334095	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43293200-43332400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:43303600-43332200	Weak transcription	NHDF-Ad	bronchial
3	chr10:43314400-43332200	Weak transcription	Right Atrium	heart
4	chr10:43320000-43332600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr10:43321400-43332800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr10:43321600-43332200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:43323000-43332400	Weak transcription	Psoas Muscle	Psoas
8	chr10:43323400-43332200	Weak transcription	Stomach Mucosa	stomach
9	chr10:43324000-43331600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr10:43326400-43332200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:43326800-43331600	Weak transcription	Aorta	Aorta
12	chr10:43326800-43331600	Weak transcription	Fetal Intestine Small	intestine
13	chr10:43326800-43331800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr10:43326800-43332000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:43326800-43332200	Weak transcription	Brain Anterior Caudate	brain
16	chr10:43326800-43332200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:43326800-43332200	Weak transcription	NHEK	skin
18	chr10:43326800-43332400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr10:43327000-43332000	Weak transcription	Colonic Mucosa	Colon
20	chr10:43327200-43332000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:43327200-43332200	Weak transcription	NH-A	brain
22	chr10:43327200-43332600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:43327200-43332800	Weak transcription	Spleen	Spleen
24	chr10:43327400-43332200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:43327400-43332200	Weak transcription	Fetal Kidney	kidney
26	chr10:43327400-43332200	Weak transcription	HepG2	liver
27	chr10:43327400-43332200	Weak transcription	NHLF	lung
28	chr10:43327600-43331600	Weak transcription	HUVEC	blood vessel
29	chr10:43327600-43331800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr10:43327600-43332200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr10:43327600-43332200	Weak transcription	Primary B cells from peripheral blood	blood
32	chr10:43327600-43332200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr10:43327600-43332200	Weak transcription	Colon Smooth Muscle	Colon
34	chr10:43327600-43332400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr10:43327600-43332400	Weak transcription	HSMM	muscle
36	chr10:43327600-43332800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr10:43327800-43331800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:43327800-43332200	Weak transcription	Brain Hippocampus Middle	brain
39	chr10:43328000-43331600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:43328000-43332200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr10:43328000-43332200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr10:43328000-43332200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr10:43328000-43332200	Weak transcription	Placenta	Placenta
44	chr10:43328000-43332200	Weak transcription	HMEC	breast
45	chr10:43328200-43331600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr10:43328200-43331600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr10:43328200-43331600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr10:43328200-43331800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr10:43328200-43332000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr10:43328200-43332000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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