Variant report

Variant	rs17073514
Chromosome Location	chr13:30058398-30058399
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11842476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17073517	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17073523	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73452315	1.00[ASN][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	nsv427927	chr13:29729315-30062054	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30047200-30081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr13:30055400-30059000	Weak transcription	Dnd41	blood
3	chr13:30055600-30070200	Weak transcription	Ovary	ovary
4	chr13:30056800-30059800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:30057000-30058400	Enhancers	Fetal Muscle Leg	muscle
6	chr13:30057000-30058400	Enhancers	Fetal Stomach	stomach
7	chr13:30057200-30058400	Enhancers	Left Ventricle	heart
8	chr13:30057200-30058400	Enhancers	Right Atrium	heart
9	chr13:30057200-30059200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:30057400-30059000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr13:30057400-30059000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr13:30057400-30059200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:30057400-30059200	Enhancers	Primary B cells from peripheral blood	blood
14	chr13:30057400-30059400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:30057400-30062000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr13:30057400-30070200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr13:30057800-30058400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr13:30057800-30058800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr13:30057800-30059000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr13:30057800-30059000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr13:30057800-30059000	Enhancers	Primary B cells from cord blood	blood
22	chr13:30057800-30059000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr13:30057800-30059200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr13:30057800-30059200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:30057800-30059200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr13:30058000-30058400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:30058000-30059000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:30058000-30059200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:30058000-30059200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:30058000-30059200	Strong transcription	Aorta	Aorta
31	chr13:30058200-30058400	Transcr. at gene 5' and 3'	Fetal Heart	heart
32	chr13:30058200-30059000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr13:30058200-30059200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr13:30058200-30070200	Weak transcription	Right Ventricle	heart

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