Variant report

Variant	rs13421736
Chromosome Location	chr2:46481069-46481070
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46478650..46481969-chr2:46521843..46525540,3	MCF-7	breast:
2	chr2:46477776..46481247-chr2:46482049..46485847,4	K562	blood:
3	chr2:46479816..46482357-chr2:46596198..46598325,2	K562	blood:
4	chr2:46480187..46481932-chr2:46487116..46489274,2	MCF-7	breast:
5	chr2:46391816..46394718-chr2:46479092..46481479,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233335	Chromatin interaction
ENSG00000116016	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10189575	1.00[EUR][1000 genomes]
rs28595856	1.00[EUR][1000 genomes]
rs57990249	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46474400-46486600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:46478600-46481200	Enhancers	Fetal Muscle Leg	muscle
3	chr2:46478600-46481200	Enhancers	Placenta	Placenta
4	chr2:46478600-46481400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:46478800-46481200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:46479200-46481200	Enhancers	Lung	lung
7	chr2:46479600-46481200	Enhancers	Fetal Muscle Trunk	muscle
8	chr2:46479600-46481200	Enhancers	Spleen	Spleen
9	chr2:46479600-46481800	Enhancers	Liver	Liver
10	chr2:46479600-46486000	Weak transcription	Psoas Muscle	Psoas
11	chr2:46480000-46484800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:46480200-46484400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:46480600-46483600	Weak transcription	HUVEC	blood vessel
14	chr2:46480800-46481600	Enhancers	K562	blood
15	chr2:46480800-46483600	Weak transcription	Right Atrium	heart
16	chr2:46480800-46484000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:46480800-46484000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:46480800-46484600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:46480800-46484600	Weak transcription	Fetal Lung	lung
20	chr2:46480800-46486200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:46480800-46486400	Weak transcription	Fetal Heart	heart
22	chr2:46480800-46486600	Weak transcription	Pancreas	Pancrea
23	chr2:46481000-46483000	Weak transcription	Right Ventricle	heart
24	chr2:46481000-46483600	Weak transcription	Adipose Nuclei	Adipose
25	chr2:46481000-46483600	Weak transcription	Fetal Stomach	stomach
26	chr2:46481000-46483600	Weak transcription	Left Ventricle	heart

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