Variant report

Variant	rs16969600
Chromosome Location	chr15:39984704-39984705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:39984467..39987996-chr15:40003626..40006912,3	K562	blood:
2	chr15:39984161..39987304-chr15:39989320..39992486,3	K562	blood:
3	chr15:39980861..39985158-chr15:39988045..39992700,5	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1166719	1.00[AMR][1000 genomes]
rs1166720	1.00[AMR][1000 genomes]
rs1166726	1.00[AMR][1000 genomes]
rs12911910	0.81[AFR][1000 genomes]
rs16969537	1.00[AMR][1000 genomes]
rs16969678	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2638008	1.00[AMR][1000 genomes]
rs2638011	1.00[AMR][1000 genomes]
rs4322636	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4641712	1.00[AMR][1000 genomes]
rs596717	1.00[AMR][1000 genomes]
rs612775	1.00[AMR][1000 genomes]
rs628076	1.00[AMR][1000 genomes]
rs639230	1.00[AMR][1000 genomes]
rs8030678	1.00[AMR][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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39974800-39985000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:39977200-39990600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr15:39979800-39985000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:39982000-39985800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr15:39982600-39985800	Enhancers	Fetal Stomach	stomach
6	chr15:39982800-39985000	Enhancers	Fetal Lung	lung
7	chr15:39982800-39985200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:39982800-39986200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:39982800-39986400	Enhancers	Brain Germinal Matrix	brain
10	chr15:39983000-39984800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:39983000-39985800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr15:39983000-39989800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:39983200-39985000	Enhancers	Fetal Brain Female	brain
14	chr15:39983200-39985000	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:39983200-39985400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:39983200-39985800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr15:39983200-39990800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:39983400-39985800	Enhancers	Fetal Brain Male	brain
19	chr15:39983600-39984800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr15:39983600-39986200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:39983800-39985000	Weak transcription	NHDF-Ad	bronchial
22	chr15:39983800-39985400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:39983800-39985800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr15:39983800-39987200	Weak transcription	K562	blood
25	chr15:39984200-39985600	Enhancers	Brain Anterior Caudate	brain
26	chr15:39984200-39986200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:39984400-39984800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr15:39984400-39985000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr15:39984400-39985400	Enhancers	Fetal Kidney	kidney
30	chr15:39984400-39985600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr15:39984400-39985600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr15:39984600-39985000	Enhancers	Colon Smooth Muscle	Colon
33	chr15:39984600-39985000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr15:39984600-39985000	Enhancers	Rectal Smooth Muscle	rectum
35	chr15:39984600-39985400	Enhancers	Brain Cingulate Gyrus	brain
36	chr15:39984600-39985600	Enhancers	Brain Angular Gyrus	brain
37	chr15:39984600-39985800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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