Variant report

Variant	rs73458827
Chromosome Location	chr13:39994098-39994099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11616809	1.00[EUR][1000 genomes]
rs1185407	1.00[EUR][1000 genomes]
rs1323939	1.00[EUR][1000 genomes]
rs1408178	1.00[EUR][1000 genomes]
rs1408180	1.00[EUR][1000 genomes]
rs1408181	1.00[EUR][1000 genomes]
rs56828330	1.00[EUR][1000 genomes]
rs60460761	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73458831	1.00[EUR][1000 genomes]
rs73458836	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73458841	1.00[EUR][1000 genomes]
rs73458846	1.00[EUR][1000 genomes]
rs73458848	1.00[EUR][1000 genomes]
rs73458853	1.00[EUR][1000 genomes]
rs73458854	1.00[EUR][1000 genomes]
rs73458866	1.00[EUR][1000 genomes]
rs73458868	1.00[EUR][1000 genomes]
rs73458870	1.00[EUR][1000 genomes]
rs73458872	1.00[EUR][1000 genomes]
rs73458874	1.00[EUR][1000 genomes]
rs73458876	1.00[EUR][1000 genomes]
rs73458878	1.00[EUR][1000 genomes]
rs73460938	1.00[EUR][1000 genomes]
rs73460941	1.00[EUR][1000 genomes]
rs73460943	1.00[EUR][1000 genomes]
rs73460944	1.00[EUR][1000 genomes]
rs73460945	1.00[EUR][1000 genomes]
rs73460957	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73460966	1.00[EUR][1000 genomes]
rs73460972	1.00[EUR][1000 genomes]
rs73460981	1.00[EUR][1000 genomes]
rs7993890	1.00[EUR][1000 genomes]
rs7994955	1.00[EUR][1000 genomes]
rs7999497	1.00[EUR][1000 genomes]
rs9315684	1.00[EUR][1000 genomes]
rs9548762	1.00[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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv900008	chr13:39962791-40020267	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39988600-39994600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr13:39988600-39995000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:39988800-39994600	Enhancers	Fetal Heart	heart
4	chr13:39990600-39994600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:39991200-39994600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:39991400-39997600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:39992000-39994400	Weak transcription	Brain Germinal Matrix	brain
8	chr13:39992000-39994600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr13:39992000-39995000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:39992000-40018600	Weak transcription	Right Ventricle	heart
11	chr13:39992200-39994200	Weak transcription	Brain Angular Gyrus	brain
12	chr13:39992200-39994400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:39992200-39994400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:39992200-39994600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:39992200-39994600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:39992200-39997600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:39992400-39995400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:39992400-39995600	Weak transcription	NHDF-Ad	bronchial
19	chr13:39992400-39997400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:39992800-39994400	Enhancers	Brain Anterior Caudate	brain
21	chr13:39992800-39996000	Weak transcription	HUVEC	blood vessel
22	chr13:39993000-39994200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr13:39993000-39995000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr13:39993200-39994800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:39993400-39994200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr13:39993400-39994200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr13:39993400-39994200	Weak transcription	Brain Hippocampus Middle	brain
28	chr13:39993400-39994400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr13:39993400-39997600	Weak transcription	Ovary	ovary
30	chr13:39993600-39995200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:39994000-39994400	Enhancers	Left Ventricle	heart

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