Variant report

Variant	rs12245709
Chromosome Location	chr10:52149846-52149847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52147072..52150928-chr10:52150968..52156665,5	K562	blood:
2	chr10:52149428..52151054-chr10:52153978..52156665,2	K562	blood:
3	chr10:52124299..52127180-chr10:52148333..52150881,2	K562	blood:
4	chr10:52133378..52136507-chr10:52147936..52151266,3	MCF-7	breast:
5	chr10:52140574..52146052-chr10:52147232..52152526,7	K562	blood:
6	chr10:52143234..52144836-chr10:52148606..52151591,2	K562	blood:

Variant related genes	Relation type
ENSG00000269700	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10159614	0.90[ASN][1000 genomes]
rs10763373	0.83[AFR][1000 genomes]
rs10825825	0.86[AFR][1000 genomes]
rs10825837	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10825903	0.97[ASN][1000 genomes]
rs11005454	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11005521	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11005612	0.97[ASN][1000 genomes]
rs12244472	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12246357	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12252248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12252843	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12262586	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12265260	0.90[ASN][1000 genomes]
rs56208258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57325762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59725568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7073693	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7077375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7084809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7097717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7097865	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73330990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73332908	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73332909	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74132707	0.97[ASN][1000 genomes]
rs768185	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518071	chr10:51595893-52157935	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1053903	chr10:51886486-52163991	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1040661	chr10:51886486-52164585	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1051028	chr10:51886486-52164585	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1037118	chr10:51886486-52167442	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv521273	chr10:52051645-52197847	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv430231	chr10:52119046-52163531	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv948006	chr10:52127164-52177684	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52104200-52157000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:52135400-52154000	Weak transcription	Right Ventricle	heart
3	chr10:52135600-52152800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:52135800-52155400	Weak transcription	Primary T cells from cord blood	blood
5	chr10:52136000-52155400	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr10:52136800-52152600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:52137000-52154800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:52137800-52153600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:52140000-52154600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr10:52140400-52156800	Weak transcription	Gastric	stomach
11	chr10:52140400-52157000	Weak transcription	Aorta	Aorta
12	chr10:52141600-52152200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:52142400-52153400	Weak transcription	Left Ventricle	heart
14	chr10:52142600-52170200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr10:52142800-52153800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:52142800-52153800	Weak transcription	Fetal Heart	heart
17	chr10:52142800-52156400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr10:52143000-52150200	Weak transcription	A549	lung
19	chr10:52143800-52152200	Weak transcription	Fetal Intestine Large	intestine
20	chr10:52144400-52153600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:52145000-52152200	Enhancers	Liver	Liver
22	chr10:52145600-52150400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr10:52145600-52150800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr10:52145600-52155800	Weak transcription	Esophagus	oesophagus
25	chr10:52145800-52150600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr10:52145800-52151800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr10:52145800-52152800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr10:52145800-52153600	Weak transcription	NHDF-Ad	bronchial
29	chr10:52145800-52153800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:52145800-52153800	Weak transcription	Adipose Nuclei	Adipose
31	chr10:52145800-52163400	Weak transcription	Fetal Kidney	kidney
32	chr10:52146000-52154400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:52146200-52150400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr10:52146200-52156000	Weak transcription	NHLF	lung
35	chr10:52146400-52154000	Weak transcription	Fetal Lung	lung
36	chr10:52146600-52152200	Weak transcription	Right Atrium	heart
37	chr10:52146600-52156400	Weak transcription	HSMMtube	muscle
38	chr10:52146800-52150600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr10:52146800-52152200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr10:52146800-52154000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr10:52147000-52150200	Weak transcription	Pancreas	Pancrea
42	chr10:52147000-52150200	Weak transcription	Psoas Muscle	Psoas
43	chr10:52147000-52150200	Weak transcription	Hela-S3	cervix
44	chr10:52147000-52150600	Weak transcription	Lung	lung
45	chr10:52147000-52176600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr10:52147200-52151600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr10:52147200-52152200	Weak transcription	Stomach Mucosa	stomach
48	chr10:52147400-52152400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr10:52147600-52155200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr10:52147800-52150000	Weak transcription	Fetal Intestine Small	intestine

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