Variant report

Variant	rs1324038
Chromosome Location	chr13:37879168-37879169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:126015648..126016148-chr13:37878876..37879768,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1006078	0.87[ASN][1000 genomes]
rs12583265	0.92[ASN][1000 genomes]
rs1324024	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1324025	0.99[ASN][1000 genomes]
rs1359214	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1359215	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17226415	0.82[ASN][1000 genomes]
rs1853577	0.98[ASN][1000 genomes]
rs1951902	0.82[ASN][1000 genomes]
rs1998565	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1998566	0.99[ASN][1000 genomes]
rs2147177	0.87[ASN][1000 genomes]
rs2224848	0.99[ASN][1000 genomes]
rs4941860	0.87[ASN][1000 genomes]
rs58106020	0.87[ASN][1000 genomes]
rs59032957	0.81[ASN][1000 genomes]
rs61637674	0.87[ASN][1000 genomes]
rs61947165	0.87[ASN][1000 genomes]
rs61947173	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6563526	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs715739	0.80[ASN][1000 genomes]
rs7489943	0.87[ASN][1000 genomes]
rs9547775	0.90[ASN][1000 genomes]
rs9566205	0.81[ASN][1000 genomes]
rs9566208	0.90[ASN][1000 genomes]
rs9566210	0.90[ASN][1000 genomes]
rs9576232	0.81[ASN][1000 genomes]
rs9576233	0.82[ASN][1000 genomes]
rs9576235	0.82[ASN][1000 genomes]
rs9576236	0.82[ASN][1000 genomes]
rs9576239	0.88[ASN][1000 genomes]
rs9576240	0.88[ASN][1000 genomes]
rs9576242	0.88[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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv899994	chr13:37816086-38087145	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv471128	chr13:37838294-37880725	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37877000-37879800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr13:37877800-37880000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:37877800-37880200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:37878000-37879200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:37878000-37880000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:37878000-37880000	Weak transcription	NHDF-Ad	bronchial
7	chr13:37878000-37880000	Weak transcription	Osteobl	bone
8	chr13:37878200-37879200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr13:37878400-37879200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr13:37878400-37879800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:37878600-37879200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr13:37878600-37879400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:37878600-37879600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:37878600-37879600	Weak transcription	NHEK	skin
15	chr13:37878600-37881200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:37879000-37879400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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