Variant report

Variant	rs2323412
Chromosome Location	chr4:22485598-22485599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1020917	0.81[CHB][hapmap]
rs1026659	0.96[ASN][1000 genomes]
rs10938901	0.93[ASN][1000 genomes]
rs11730179	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11933465	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.96[ASN][1000 genomes]
rs12646648	0.96[ASN][1000 genomes]
rs13101873	0.87[ASN][1000 genomes]
rs13109271	0.96[ASN][1000 genomes]
rs13125682	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13136131	0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs13150142	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1564138	0.81[CHB][hapmap]
rs1564139	0.81[CHB][hapmap]
rs16872728	0.85[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs2875040	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4697307	0.84[JPT][hapmap]
rs56235800	0.80[ASN][1000 genomes]
rs61792059	0.89[ASN][1000 genomes]
rs7673893	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7697601	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7697959	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[ASN][1000 genomes]
rs9790453	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv878752	chr4:22414023-22501043	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22420600-22488000	Weak transcription	Aorta	Aorta
2	chr4:22450400-22493200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:22462000-22493200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:22472600-22486200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:22473200-22487400	Weak transcription	Right Ventricle	heart
6	chr4:22474200-22486200	Weak transcription	Fetal Stomach	stomach
7	chr4:22475000-22489400	Weak transcription	Lung	lung
8	chr4:22475200-22486000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:22476600-22487200	Weak transcription	Small Intestine	intestine
10	chr4:22477800-22489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:22480400-22485600	Weak transcription	Primary T cells from cord blood	blood
12	chr4:22482200-22488800	Enhancers	HMEC	breast
13	chr4:22482400-22485600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:22482400-22486600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:22482800-22486200	Weak transcription	Ovary	ovary
16	chr4:22483000-22487400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:22483000-22488400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:22483400-22488200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:22483800-22486400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:22484000-22485600	Enhancers	Fetal Heart	heart
21	chr4:22484000-22486400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr4:22484000-22488400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:22484000-22488600	Enhancers	Primary hematopoietic stem cells	blood
24	chr4:22484200-22485600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr4:22484200-22485600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:22484200-22485600	Enhancers	Liver	Liver
27	chr4:22484200-22485600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:22484200-22485800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:22484200-22486400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:22484200-22487200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:22484200-22487200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:22484200-22487200	Enhancers	HSMM	muscle
33	chr4:22484200-22488800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:22484200-22488800	Enhancers	NH-A	brain
35	chr4:22484200-22489400	Enhancers	HSMMtube	muscle
36	chr4:22484200-22490400	Enhancers	Fetal Muscle Leg	muscle
37	chr4:22484400-22485600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:22484400-22486600	Enhancers	NHLF	lung
39	chr4:22484400-22486600	Enhancers	Osteobl	bone
40	chr4:22484400-22489000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:22484600-22485600	Enhancers	Hela-S3	cervix
42	chr4:22484600-22486600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr4:22484600-22488400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr4:22484600-22489400	Enhancers	Fetal Lung	lung
45	chr4:22484800-22485600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:22484800-22485600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr4:22484800-22485800	Enhancers	Fetal Intestine Large	intestine
48	chr4:22484800-22485800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr4:22484800-22486000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:22484800-22486000	Weak transcription	Fetal Muscle Trunk	muscle

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