Variant report

Variant	rs34749111
Chromosome Location	chr4:82419202-82419203
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10010140	0.90[ASN][1000 genomes]
rs10010394	0.90[ASN][1000 genomes]
rs10012642	0.86[ASN][1000 genomes]
rs10015146	0.90[ASN][1000 genomes]
rs10023826	1.00[ASN][1000 genomes]
rs12500201	0.90[ASN][1000 genomes]
rs12502814	0.90[ASN][1000 genomes]
rs13102560	0.95[ASN][1000 genomes]
rs13111699	0.90[ASN][1000 genomes]
rs13128387	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13131664	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16998600	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17005142	0.90[ASN][1000 genomes]
rs17005144	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17005145	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28479652	0.90[ASN][1000 genomes]
rs28767523	0.90[ASN][1000 genomes]
rs28827174	0.90[ASN][1000 genomes]
rs34128580	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35010226	1.00[ASN][1000 genomes]
rs35149381	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35991185	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36026752	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs41523946	1.00[ASN][1000 genomes]
rs4693274	0.90[ASN][1000 genomes]
rs4693275	0.92[ASN][1000 genomes]
rs4693276	0.92[ASN][1000 genomes]
rs4693277	0.92[ASN][1000 genomes]
rs62303604	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6535252	0.90[ASN][1000 genomes]
rs6819741	0.90[ASN][1000 genomes]
rs6819989	0.90[ASN][1000 genomes]
rs6825177	0.90[ASN][1000 genomes]
rs6834665	0.90[ASN][1000 genomes]
rs7660392	0.95[ASN][1000 genomes]
rs7678464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683852	1.00[ASN][1000 genomes]
rs7684580	0.90[ASN][1000 genomes]
rs7688827	1.00[ASN][1000 genomes]
rs7690069	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7691170	0.95[ASN][1000 genomes]
rs9307784	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv829986	chr4:82345163-82509860	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1005254	chr4:82416237-82521768	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82413800-82425200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:82415400-82421000	Weak transcription	Brain Anterior Caudate	brain
3	chr4:82415800-82420400	Weak transcription	Fetal Lung	lung
4	chr4:82415800-82421000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:82415800-82423800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:82415800-82425800	Weak transcription	Right Atrium	heart
7	chr4:82415800-82426000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:82416000-82421000	Weak transcription	Fetal Thymus	thymus
9	chr4:82416400-82421600	Weak transcription	Adipose Nuclei	Adipose
10	chr4:82416600-82427600	Weak transcription	Fetal Intestine Small	intestine
11	chr4:82416800-82420400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:82417000-82419600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:82417000-82420000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:82417000-82420400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:82417200-82420000	Weak transcription	Primary T cells from cord blood	blood
16	chr4:82417200-82423400	Weak transcription	Primary B cells from cord blood	blood
17	chr4:82418800-82420800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:82419000-82421200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:82419000-82421200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:82419000-82421400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:82419200-82419600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:82419200-82419800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:82419200-82420200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:82419200-82420600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:82419200-82420800	Enhancers	HUES6 Cell Line	embryonic stem cell

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