Variant report

Variant	rs12594276
Chromosome Location	chr15:59125005-59125006
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59062323..59065051-chr15:59123430..59126769,3	K562	blood:
2	chr15:59120343..59122757-chr15:59124220..59126695,3	K562	blood:
3	chr15:59075699..59078690-chr15:59123269..59125311,2	K562	blood:
4	chr15:59124465..59128626-chr15:59131902..59134860,3	K562	blood:

Variant related genes	Relation type
ENSG00000128923	Chromatin interaction
ENSG00000245975	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11631799	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12437928	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12438114	0.89[EUR][1000 genomes]
rs12900320	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12901817	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12914164	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1678977	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2620360	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28533385	0.84[AMR][1000 genomes]
rs28549775	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28812884	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34362744	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs347112	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34880782	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775095	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs481309	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs500057	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs501165	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs510759	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs556256	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs561903	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs574683	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs596094	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs597112	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs601795	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs624536	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs625312	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs652193	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs654857	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs654870	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs664936	0.86[EUR][1000 genomes]
rs684505	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs688343	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7174187	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7183900	0.82[AFR][1000 genomes]
rs8032298	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
6	nsv1035640	chr15:59105360-59190930	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59064600-59145600	Weak transcription	Gastric	stomach
2	chr15:59065800-59142800	Weak transcription	Aorta	Aorta
3	chr15:59067000-59157800	Weak transcription	Hela-S3	cervix
4	chr15:59075000-59139800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:59077800-59153600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr15:59086200-59125800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:59086400-59125800	Weak transcription	Right Ventricle	heart
8	chr15:59090200-59156600	Weak transcription	Small Intestine	intestine
9	chr15:59095200-59156800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr15:59100400-59139800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr15:59102000-59126400	Weak transcription	Stomach Mucosa	stomach
12	chr15:59103200-59135200	Weak transcription	Pancreas	Pancrea
13	chr15:59103600-59148800	Weak transcription	A549	lung
14	chr15:59103800-59133000	Weak transcription	Spleen	Spleen
15	chr15:59103800-59157000	Weak transcription	Psoas Muscle	Psoas
16	chr15:59104000-59125200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:59104000-59125600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:59104000-59126800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr15:59104000-59137600	Weak transcription	Liver	Liver
20	chr15:59104000-59139800	Weak transcription	Fetal Lung	lung
21	chr15:59104000-59146600	Weak transcription	NH-A	brain
22	chr15:59104000-59148400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:59104000-59157000	Weak transcription	Esophagus	oesophagus
24	chr15:59104000-59157200	Weak transcription	NHLF	lung
25	chr15:59105000-59139800	Weak transcription	HMEC	breast
26	chr15:59105600-59125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:59106000-59139200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:59106000-59139600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:59106000-59156800	Weak transcription	Lung	lung
30	chr15:59106200-59137200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:59106200-59156800	Weak transcription	Ovary	ovary
32	chr15:59106200-59157000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:59106400-59125400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr15:59106400-59139400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:59106600-59137600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr15:59106600-59146400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:59106600-59157000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:59106800-59125200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr15:59106800-59125400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:59106800-59125400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:59106800-59139400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:59106800-59144600	Weak transcription	HSMMtube	muscle
43	chr15:59106800-59156400	Weak transcription	Fetal Kidney	kidney
44	chr15:59107200-59142000	Weak transcription	Brain Germinal Matrix	brain
45	chr15:59107200-59147600	Weak transcription	Osteobl	bone
46	chr15:59107400-59125400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr15:59111800-59159600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:59112000-59139800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr15:59112000-59147800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr15:59114600-59127400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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