Variant report

Variant	rs4238123
Chromosome Location	chr13:30067464-30067465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2258198	0.82[AMR][1000 genomes];0.80[EUR][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	nsv983696	chr13:30034016-30090454	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv3354076	chr13:30063952-30068350	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv899960	chr13:30064014-30097240	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr13:30047200-30081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:30055600-30070200	Weak transcription	Ovary	ovary
3	chr13:30057400-30070200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:30058200-30070200	Weak transcription	Right Ventricle	heart
5	chr13:30058800-30068200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr13:30058800-30070200	Weak transcription	Right Atrium	heart
7	chr13:30062000-30070200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr13:30062400-30068400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:30062400-30087200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:30063600-30070600	Weak transcription	Brain Angular Gyrus	brain
11	chr13:30064000-30070200	Weak transcription	Left Ventricle	heart
12	chr13:30065000-30070200	Weak transcription	Fetal Stomach	stomach
13	chr13:30065000-30077200	Weak transcription	Fetal Brain Female	brain
14	chr13:30065600-30067800	Strong transcription	Fetal Heart	heart
15	chr13:30065800-30068000	Strong transcription	Dnd41	blood
16	chr13:30066200-30070400	Weak transcription	Fetal Brain Male	brain
17	chr13:30066200-30070400	Weak transcription	Gastric	stomach
18	chr13:30066200-30071000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:30066400-30068200	Strong transcription	Aorta	Aorta
20	chr13:30066400-30084400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr13:30066600-30067600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:30066600-30068600	Strong transcription	Fetal Muscle Leg	muscle
23	chr13:30066600-30070200	Weak transcription	Pancreas	Pancrea
24	chr13:30066600-30070400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr13:30066800-30068600	Strong transcription	Stomach Smooth Muscle	stomach
26	chr13:30067400-30067600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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