Variant report

Variant	rs12505633
Chromosome Location	chr4:79232610-79232611
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	chr4:79231967..79234042-chr4:79240266..79243102,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1017649	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10461146	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12500443	0.83[AMR][1000 genomes]
rs12501798	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12502139	0.80[AMR][1000 genomes]
rs12505887	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12511360	0.80[AMR][1000 genomes]
rs12511889	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12641094	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13107378	0.80[AMR][1000 genomes]
rs13108102	0.80[AMR][1000 genomes]
rs13114110	0.87[AFR][1000 genomes]
rs13117388	0.80[AMR][1000 genomes]
rs13119684	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13136648	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13144541	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1454898	0.80[AMR][1000 genomes]
rs1840391	0.82[AMR][1000 genomes]
rs1840392	0.81[AMR][1000 genomes]
rs2124143	0.84[AFR][1000 genomes]
rs2198635	0.81[AMR][1000 genomes]
rs345525	0.85[ASN][1000 genomes]
rs345529	0.84[ASN][1000 genomes]
rs34643532	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35290872	0.80[AMR][1000 genomes]
rs35291597	0.82[AMR][1000 genomes]
rs35419939	0.81[AMR][1000 genomes]
rs35828300	0.82[AMR][1000 genomes]
rs41537644	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425288	0.82[ASN][1000 genomes]
rs4515188	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62309861	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62310017	0.82[AMR][1000 genomes]
rs62310023	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs62310045	0.81[AMR][1000 genomes]
rs6854207	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6856362	0.81[AMR][1000 genomes]
rs7661907	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7693120	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs943821	0.81[AMR][1000 genomes]
rs943822	0.82[AMR][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	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS 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	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
3	chr4:79215800-79237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:79215800-79243800	Weak transcription	Right Ventricle	heart
5	chr4:79220400-79246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:79220400-79246600	Weak transcription	HMEC	breast
7	chr4:79220600-79234200	Weak transcription	HSMMtube	muscle
8	chr4:79220600-79241400	Weak transcription	Aorta	Aorta
9	chr4:79220800-79243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:79221000-79237400	Weak transcription	Fetal Heart	heart
11	chr4:79221000-79240000	Weak transcription	Psoas Muscle	Psoas
12	chr4:79221200-79263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr4:79227000-79241400	Weak transcription	Left Ventricle	heart
14	chr4:79229000-79233200	Strong transcription	HepG2	liver
15	chr4:79229200-79233200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:79229400-79241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:79229400-79241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:79229800-79236400	Weak transcription	Fetal Intestine Small	intestine
19	chr4:79229800-79237600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:79229800-79257600	Weak transcription	Fetal Stomach	stomach
21	chr4:79230000-79239600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:79230200-79268600	Weak transcription	Pancreas	Pancrea
23	chr4:79230400-79236800	Weak transcription	Fetal Lung	lung
24	chr4:79230400-79237000	Weak transcription	Fetal Kidney	kidney
25	chr4:79230600-79258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:79231000-79235400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:79231000-79235800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:79231600-79237400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:79231600-79244400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:79231600-79260400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:79231800-79233600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr4:79232000-79233400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:79232000-79236600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:79232200-79233200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:79232200-79233800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:79232400-79233000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr4:79232400-79233000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr4:79232400-79233000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:79232400-79233200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:79232400-79233200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:79232400-79233600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:79232600-79232800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr4:79232600-79232800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:79232600-79232800	Enhancers	NHDF-Ad	bronchial

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