Variant report

Variant	rs13122812
Chromosome Location	chr4:15634625-15634626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1154577	0.84[ASN][1000 genomes]
rs13106528	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114491	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13127507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13131119	0.84[ASN][1000 genomes]
rs13131285	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13131606	0.81[ASN][1000 genomes]
rs13138894	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13141724	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13144428	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468735	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468736	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892143	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892156	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476670	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476831	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041672	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041673	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3182730	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155734	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427409	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34599140	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34831330	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34924677	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35151159	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35196224	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35258636	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35309200	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35461787	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35724720	0.84[ASN][1000 genomes]
rs36012186	0.84[ASN][1000 genomes]
rs4267734	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4326008	1.00[ASN][1000 genomes]
rs4613560	1.00[ASN][1000 genomes]
rs57275698	0.84[ASN][1000 genomes]
rs6449150	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66472670	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67047740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67089836	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67222859	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67224550	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825051	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825815	0.84[ASN][1000 genomes]
rs6834359	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237149	0.84[ASN][1000 genomes]
rs73237151	0.84[ASN][1000 genomes]
rs7699180	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS 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	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv518830	chr4:15610771-15672200	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3464794	chr4:15632350-15638142	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3464795	chr4:15632350-15638142	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3379851	chr4:15632399-15638119	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15568400-15655600	Weak transcription	Gastric	stomach
2	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
3	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
4	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
5	chr4:15605800-15650200	Weak transcription	Stomach Mucosa	stomach
6	chr4:15613400-15635000	Weak transcription	HSMMtube	muscle
7	chr4:15618600-15651000	Weak transcription	Spleen	Spleen
8	chr4:15622200-15655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:15622400-15638000	Weak transcription	HepG2	liver
10	chr4:15622400-15639600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:15622600-15645800	Weak transcription	Aorta	Aorta
12	chr4:15622800-15635200	Weak transcription	Fetal Stomach	stomach
13	chr4:15623400-15638000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:15623800-15635200	Weak transcription	Fetal Intestine Small	intestine
15	chr4:15623800-15635400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:15624200-15636000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:15625200-15640000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:15625200-15644800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr4:15625400-15643200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:15625800-15642400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:15625800-15643400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:15625800-15643600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:15625800-15643600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:15625800-15643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:15626400-15646000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr4:15626600-15635000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr4:15626800-15634800	Weak transcription	Hela-S3	cervix
28	chr4:15626800-15635000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:15627400-15635000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:15627400-15635400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:15627400-15645800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:15627400-15650000	Weak transcription	Fetal Heart	heart
33	chr4:15627400-15651200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:15627400-15652400	Weak transcription	Fetal Brain Male	brain
35	chr4:15627600-15635000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr4:15627600-15635000	Weak transcription	A549	lung
37	chr4:15627600-15638000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:15627600-15645600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:15627600-15646800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:15627600-15650200	Weak transcription	Right Ventricle	heart
41	chr4:15627800-15638000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:15627800-15638000	Weak transcription	K562	blood
43	chr4:15628000-15635000	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:15628000-15635200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:15628000-15638000	Weak transcription	Brain Angular Gyrus	brain
46	chr4:15628000-15640400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:15628000-15655600	Weak transcription	Lung	lung
48	chr4:15628200-15635000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:15628200-15635000	Weak transcription	Thymus	Thymus
50	chr4:15628200-15638000	Weak transcription	Brain Anterior Caudate	brain

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