Variant report

Variant	rs12640685
Chromosome Location	chr4:56736341-56736342
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56734450..56737481-chr4:56739957..56742859,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10013329	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10024279	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10027961	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12640617	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1374515	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17086086	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17086122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086160	0.89[ASN][1000 genomes]
rs17740755	1.00[AFR][1000 genomes]
rs17742000	1.00[AFR][1000 genomes]
rs17797113	1.00[AFR][1000 genomes]
rs17798452	1.00[AFR][1000 genomes]
rs2702344	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2702348	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28416783	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28892935	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34184679	1.00[AFR][1000 genomes]
rs35143702	1.00[AFR][1000 genomes]
rs41279543	1.00[AFR][1000 genomes]
rs41280345	1.00[AFR][1000 genomes]
rs61753870	1.00[AFR][1000 genomes]
rs6817951	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6856461	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs719007	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674801	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675164	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr4:56720400-56764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56720600-56747400	Weak transcription	Spleen	Spleen
3	chr4:56720800-56737200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:56720800-56761800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:56721000-56747400	Weak transcription	Aorta	Aorta
6	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
7	chr4:56722000-56747200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:56722200-56737200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:56724400-56752400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:56727600-56736800	Weak transcription	HepG2	liver
11	chr4:56727600-56742400	Weak transcription	Right Ventricle	heart
12	chr4:56729800-56737200	Weak transcription	Fetal Intestine Small	intestine
13	chr4:56731600-56744200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:56731800-56747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:56732000-56736400	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:56732200-56737200	Weak transcription	Pancreas	Pancrea
17	chr4:56732600-56754000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:56733000-56737200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:56733200-56737200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:56733200-56747200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:56733200-56763000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:56733400-56741600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:56733600-56736600	Weak transcription	A549	lung
24	chr4:56733600-56742000	Strong transcription	Dnd41	blood
25	chr4:56733600-56763000	Weak transcription	Stomach Mucosa	stomach
26	chr4:56733800-56736600	Weak transcription	HMEC	breast
27	chr4:56733800-56737200	Weak transcription	NHEK	skin
28	chr4:56733800-56740200	Strong transcription	GM12878-XiMat	blood
29	chr4:56733800-56772200	Weak transcription	Hela-S3	cervix
30	chr4:56733800-56772800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr4:56734000-56737800	Strong transcription	Primary hematopoietic stem cells	blood
32	chr4:56734000-56738000	Strong transcription	Brain Hippocampus Middle	brain
33	chr4:56734000-56740000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:56734000-56740200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:56734000-56741800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:56734400-56737000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:56734400-56737800	Strong transcription	Colonic Mucosa	Colon
38	chr4:56734400-56738000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr4:56734400-56738000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:56734400-56738000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:56734400-56738000	Strong transcription	HUVEC	blood vessel
42	chr4:56734400-56738200	Strong transcription	Brain Angular Gyrus	brain
43	chr4:56734400-56738400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:56734400-56738400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:56734400-56738600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:56734400-56740000	Strong transcription	Primary T cells from cord blood	blood
47	chr4:56734400-56740000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:56734400-56740000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr4:56734400-56740000	Strong transcription	Osteobl	bone
50	chr4:56734400-56740200	Strong transcription	Primary B cells from peripheral blood	blood

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