Variant report

Variant	rs9548783
Chromosome Location	chr13:40067857-40067858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1927194	0.92[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1927195	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4941929	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6563711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7317971	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs7325209	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7334279	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs912042	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs943565	0.88[YRI][hapmap]
rs9532384	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9576826	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv818957	chr13:40063104-40067857	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40043600-40068200	Weak transcription	Lung	lung
2	chr13:40057000-40070400	Weak transcription	Right Ventricle	heart
3	chr13:40058400-40068200	Weak transcription	Right Atrium	heart
4	chr13:40058600-40070800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:40059000-40073000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr13:40060800-40068200	Weak transcription	Aorta	Aorta
7	chr13:40060800-40071800	Weak transcription	HSMM	muscle
8	chr13:40061600-40081000	Weak transcription	Osteobl	bone
9	chr13:40062400-40068400	Weak transcription	Fetal Muscle Leg	muscle
10	chr13:40062600-40068200	Weak transcription	Left Ventricle	heart
11	chr13:40062600-40073000	Weak transcription	Psoas Muscle	Psoas
12	chr13:40064800-40081200	Weak transcription	HSMMtube	muscle
13	chr13:40065200-40068200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr13:40065400-40068200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr13:40065400-40068200	Weak transcription	Brain Germinal Matrix	brain
16	chr13:40065400-40068200	Weak transcription	Ovary	ovary
17	chr13:40065600-40068000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr13:40065600-40068000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr13:40065600-40068200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:40065600-40068200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:40065600-40075000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:40065600-40075200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:40066400-40068000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr13:40066400-40068000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr13:40067200-40074000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr13:40067600-40068000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr13:40067600-40069600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr13:40067600-40069600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr13:40067600-40071800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:40067600-40072400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr13:40067600-40074000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr13:40067600-40074200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:40067800-40068800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr13:40067800-40069600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr13:40067800-40069600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:40067800-40069600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr13:40067800-40078400	Enhancers	Fetal Heart	heart

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