Variant report

Variant	rs12594667
Chromosome Location	chr15:73053335-73053336
allele	A/C
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	chr15:73053034-73053620	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:73052593..73054821-chr15:73074535..73076137,2	MCF-7	breast:
2	chr15:73053001..73055087-chr15:73074659..73077340,2	K562	blood:
3	chr15:72982189..72984616-chr15:73052053..73053998,2	K562	blood:

Variant related genes	Relation type
ADPGK	TF binding region
ENSG00000260898	Chromatin interaction
ENSG00000159322	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11072387	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12439375	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12440951	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12441084	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12443420	0.81[ASN][1000 genomes]
rs12592955	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12594844	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12594938	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16957293	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2278543	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2415166	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28398258	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs28502551	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3179616	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34337823	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35136341	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35958407	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3759870	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4776611	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4776616	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4777528	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4777529	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4777530	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777531	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4777533	0.91[ASN][1000 genomes]
rs4777537	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4777538	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4777540	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777543	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4777545	0.92[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56915357	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs57621041	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58600393	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59049627	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59152128	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60405894	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60601886	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60674997	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61311866	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61632994	0.82[ASN][1000 genomes]
rs62017593	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62017598	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62017623	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7178409	0.81[ASN][1000 genomes]
rs72662112	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72737337	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7495022	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8032586	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
2	chr15:73030600-73058400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:73041800-73071000	Strong transcription	Liver	Liver
4	chr15:73042200-73053800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr15:73042200-73055400	Strong transcription	Fetal Muscle Leg	muscle
6	chr15:73042200-73056200	Strong transcription	Thymus	Thymus
7	chr15:73042200-73058600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:73042200-73058600	Strong transcription	A549	lung
9	chr15:73043200-73053400	Strong transcription	GM12878-XiMat	blood
10	chr15:73043200-73053800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr15:73043400-73053600	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr15:73043400-73055200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:73043400-73055800	Strong transcription	Fetal Stomach	stomach
14	chr15:73043400-73056200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr15:73043400-73056600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:73043400-73056600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr15:73043400-73056800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr15:73043400-73058800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:73043400-73058800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr15:73043400-73059000	Strong transcription	Fetal Intestine Small	intestine
21	chr15:73043400-73059000	Strong transcription	Left Ventricle	heart
22	chr15:73043400-73059200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:73043400-73059200	Strong transcription	Fetal Intestine Large	intestine
24	chr15:73043800-73053600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr15:73043800-73057000	Strong transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:73043800-73057200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
28	chr15:73044000-73053400	Strong transcription	Fetal Lung	lung
29	chr15:73044000-73054000	Strong transcription	HepG2	liver
30	chr15:73044000-73057400	Strong transcription	Dnd41	blood
31	chr15:73044000-73058600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:73044200-73059200	Strong transcription	Primary T cells from cord blood	blood
33	chr15:73044200-73067600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr15:73044400-73056400	Weak transcription	Fetal Heart	heart
35	chr15:73044400-73056400	Strong transcription	Hela-S3	cervix
36	chr15:73044600-73056200	Strong transcription	Ovary	ovary
37	chr15:73045000-73053400	Strong transcription	Primary B cells from cord blood	blood
38	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:73045200-73054000	Strong transcription	Lung	lung
40	chr15:73045200-73058800	Strong transcription	Primary B cells from peripheral blood	blood
41	chr15:73045200-73074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr15:73045400-73053600	Strong transcription	Spleen	Spleen
43	chr15:73045400-73054200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr15:73045400-73059800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr15:73045400-73060800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr15:73045400-73066400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:73045600-73055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:73045600-73067400	Strong transcription	Placenta	Placenta
49	chr15:73045800-73059200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:73046200-73059200	Strong transcription	Monocytes-CD14+_RO01746	blood

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