Variant report

Variant	rs13393890
Chromosome Location	chr2:11438470-11438471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11436708..11439216-chr2:11441108..11443775,3	K562	blood:
2	chr2:11436411..11439216-chr2:11442275..11444665,2	K562	blood:
3	chr2:11437034..11438737-chr2:11483029..11485386,2	K562	blood:
4	chr2:11437773..11439523-chr2:11445218..11447388,2	K562	blood:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10168273	1.00[AFR][1000 genomes]
rs10187792	1.00[AFR][1000 genomes]
rs10202636	1.00[AFR][1000 genomes]
rs10202739	1.00[AFR][1000 genomes]
rs10210180	1.00[AFR][1000 genomes]
rs13398467	1.00[AFR][1000 genomes]
rs13409112	1.00[AFR][1000 genomes]
rs72789506	1.00[AFR][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	nsv526038	chr2:11369078-11489531	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1827245	chr2:11385834-11442583	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11424800-11455200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:11426000-11442400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:11426000-11444800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:11426200-11443400	Weak transcription	HSMM	muscle
5	chr2:11426400-11441600	Weak transcription	Fetal Intestine Small	intestine
6	chr2:11426600-11442600	Weak transcription	Primary T cells from cord blood	blood
7	chr2:11426600-11446000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:11428800-11444200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:11429000-11439800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:11429000-11444800	Weak transcription	Left Ventricle	heart
11	chr2:11433200-11442600	Weak transcription	Psoas Muscle	Psoas
12	chr2:11433200-11445600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:11433200-11446200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:11433400-11443600	Weak transcription	Adipose Nuclei	Adipose
15	chr2:11433600-11439000	Weak transcription	Liver	Liver
16	chr2:11433600-11443400	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:11433600-11444600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:11433600-11446800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:11433600-11448000	Weak transcription	Right Ventricle	heart
20	chr2:11433800-11438800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:11434000-11438800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:11434000-11443400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:11434000-11443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:11434600-11438800	Weak transcription	HepG2	liver
25	chr2:11436200-11438800	Enhancers	A549	lung
26	chr2:11437000-11443200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:11438000-11443200	Weak transcription	Fetal Heart	heart
28	chr2:11438200-11438600	Enhancers	Ovary	ovary
29	chr2:11438400-11443000	Weak transcription	K562	blood

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