Variant report

Variant	rs7690446
Chromosome Location	chr4:121962228-121962229
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:121961892..121964764-chr4:122014913..122016719,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11931955	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11945593	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11946567	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13108974	0.94[EUR][1000 genomes]
rs1397645	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397646	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136949	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775913	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4456980	0.92[EUR][1000 genomes]
rs4605682	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56242650	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58294830	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58510164	0.93[EUR][1000 genomes]
rs6534219	0.85[JPT][hapmap]
rs6844456	0.85[JPT][hapmap]

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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121952200-121979600	Weak transcription	Psoas Muscle	Psoas
2	chr4:121953600-121968600	Weak transcription	NHDF-Ad	bronchial
3	chr4:121954000-121962800	Weak transcription	Left Ventricle	heart
4	chr4:121955600-121967000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:121957200-121963200	Strong transcription	Fetal Intestine Large	intestine
6	chr4:121957400-121962400	Weak transcription	Fetal Kidney	kidney
7	chr4:121957400-121963200	Strong transcription	Ovary	ovary
8	chr4:121958200-121962600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:121958400-121971400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:121958600-121962600	Weak transcription	Adipose Nuclei	Adipose
11	chr4:121958800-121962600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:121959000-121962400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:121960000-121966000	Weak transcription	Fetal Intestine Small	intestine
14	chr4:121960800-121965200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:121961000-121962600	Weak transcription	Fetal Lung	lung
16	chr4:121961200-121962400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:121961200-121978000	Weak transcription	Lung	lung
18	chr4:121961800-121962800	Enhancers	Fetal Thymus	thymus
19	chr4:121961800-121963200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr4:121961800-121963200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr4:121961800-121963600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr4:121962000-121963800	Enhancers	Primary T cells from cord blood	blood
23	chr4:121962000-121963800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr4:121962200-121963000	Enhancers	HUES6 Cell Line	embryonic stem cell

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