Variant report

Variant	rs12915053
Chromosome Location	chr15:35250236-35250237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:35249955..35252254-chr15:35836520..35838863,2	K562	blood:
2	chr15:35243309..35245950-chr15:35248487..35252213,3	K562	blood:
3	chr15:35241441..35242954-chr15:35249082..35251825,2	K562	blood:

Variant related genes	Relation type
ENSG00000134146	Chromatin interaction
ENSG00000248079	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10152246	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10519967	0.82[AFR][1000 genomes]
rs11073076	0.90[ASN][1000 genomes]
rs11629721	0.91[ASN][1000 genomes]
rs11635485	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11636350	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11852957	0.81[AMR][1000 genomes]
rs12439825	0.80[ASN][1000 genomes]
rs12591197	0.84[ASN][1000 genomes]
rs12593603	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12708534	0.91[ASN][1000 genomes]
rs12898639	0.83[EUR][1000 genomes]
rs12901028	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12901394	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12901457	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12901466	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12901794	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12915493	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1376784	0.82[AFR][1000 genomes]
rs2060809	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2060810	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2060811	0.89[ASN][1000 genomes]
rs2060812	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2305411	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28498500	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28715915	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs36067547	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3816447	0.84[EUR][1000 genomes]
rs4513050	0.90[ASN][1000 genomes]
rs4923817	0.82[AFR][1000 genomes]
rs4923845	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4924344	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4924355	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4924357	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4924369	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6495726	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6495728	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6495729	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6495730	0.89[ASN][1000 genomes]
rs7164169	0.87[ASN][1000 genomes]
rs7164266	0.87[ASN][1000 genomes]
rs7165835	0.81[AFR][1000 genomes]
rs7167892	0.82[EUR][1000 genomes]
rs7170280	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7172507	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7177337	0.89[ASN][1000 genomes]
rs7179205	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7179833	0.90[ASN][1000 genomes]
rs7181836	0.84[ASN][1000 genomes]
rs7182356	0.86[ASN][1000 genomes]
rs7497306	0.82[AFR][1000 genomes]
rs8031861	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8037610	0.89[ASN][1000 genomes]
rs963425	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9806487	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9920236	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9920529	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350109	chr15:34668106-35534229	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv522411	chr15:34953986-35462981	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2761865	chr15:35101678-35271639	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv832967	chr15:35110102-35267906	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv904071	chr15:35150897-35250771	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv904072	chr15:35150897-35259376	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv569154	chr15:35165366-35259376	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35198800-35261200	Weak transcription	Esophagus	oesophagus
2	chr15:35207000-35259400	Weak transcription	Small Intestine	intestine
3	chr15:35220600-35260200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:35220800-35251400	Weak transcription	Aorta	Aorta
5	chr15:35221200-35260800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:35223400-35260600	Weak transcription	Fetal Heart	heart
7	chr15:35224200-35251200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:35224200-35258800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr15:35225200-35250400	Weak transcription	Spleen	Spleen
10	chr15:35225200-35251400	Weak transcription	Colonic Mucosa	Colon
11	chr15:35225200-35254200	Weak transcription	Right Ventricle	heart
12	chr15:35225400-35259200	Weak transcription	Psoas Muscle	Psoas
13	chr15:35226000-35251400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr15:35229400-35261000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:35232200-35260800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:35232400-35256600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:35232600-35251400	Weak transcription	Fetal Brain Male	brain
18	chr15:35232800-35250400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:35232800-35258800	Weak transcription	Brain Germinal Matrix	brain
20	chr15:35233200-35259600	Weak transcription	Brain Angular Gyrus	brain
21	chr15:35235000-35251200	Weak transcription	HepG2	liver
22	chr15:35235000-35251400	Weak transcription	Brain Hippocampus Middle	brain
23	chr15:35235000-35256400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:35235000-35256400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr15:35235000-35258000	Weak transcription	Brain Substantia Nigra	brain
26	chr15:35235000-35258800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:35235000-35260200	Weak transcription	Stomach Mucosa	stomach
28	chr15:35235000-35260800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr15:35235200-35254000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr15:35235200-35260800	Weak transcription	Fetal Brain Female	brain
31	chr15:35235400-35259400	Weak transcription	Gastric	stomach
32	chr15:35236600-35260800	Weak transcription	Fetal Kidney	kidney
33	chr15:35237400-35258600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr15:35239600-35257200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr15:35240000-35261000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:35240400-35251200	Weak transcription	Placenta	Placenta
37	chr15:35240600-35250400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:35240600-35250400	Weak transcription	Lung	lung
39	chr15:35240600-35251600	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr15:35240600-35260600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr15:35240600-35260800	Weak transcription	Brain Anterior Caudate	brain
42	chr15:35240800-35251400	Weak transcription	HUVEC	blood vessel
43	chr15:35240800-35251600	Weak transcription	NHEK	skin
44	chr15:35241400-35251400	Weak transcription	Left Ventricle	heart
45	chr15:35243200-35261200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr15:35243400-35253600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr15:35243400-35253800	Weak transcription	Hela-S3	cervix
48	chr15:35243600-35251600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:35243600-35253400	Weak transcription	Fetal Lung	lung
50	chr15:35244200-35251800	Weak transcription	Fetal Thymus	thymus

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