Variant report

Variant	rs2631712
Chromosome Location	chr15:39984239-39984240
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:39974204..39976528-chr15:39982397..39984405,2	MCF-7	breast:
2	chr15:39984161..39987304-chr15:39989320..39992486,3	K562	blood:
3	chr15:39980861..39985158-chr15:39988045..39992700,5	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11638500	0.81[EUR][1000 genomes]
rs11854306	0.89[ASN][1000 genomes]
rs11855578	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1320036	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16969640	0.80[EUR][1000 genomes]
rs1906153	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1906159	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1906160	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2087133	0.84[ASN][1000 genomes]
rs2129458	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2171310	0.89[ASN][1000 genomes]
rs2254829	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2254942	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2254947	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2411312	0.82[EUR][1000 genomes]
rs2412424	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2631692	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2631693	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2631694	0.94[ASN][1000 genomes]
rs2631695	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631696	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631698	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2631703	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2631708	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2631709	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2631711	0.94[ASN][1000 genomes]
rs2631713	0.94[ASN][1000 genomes]
rs2631715	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2664124	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2664126	0.94[ASN][1000 genomes]
rs2664127	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2664129	0.93[ASN][1000 genomes]
rs2664130	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2664131	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2664132	0.93[ASN][1000 genomes]
rs3103066	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34275067	0.81[EUR][1000 genomes]
rs56197892	0.80[EUR][1000 genomes]
rs62004771	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62004772	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67426899	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7171939	0.89[ASN][1000 genomes]
rs8028503	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8035895	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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:29 , 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	chr15:39975400-39984400	Weak transcription	Fetal Kidney	kidney
3	chr15:39977200-39990600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:39979800-39985000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:39982000-39985800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr15:39982600-39985800	Enhancers	Fetal Stomach	stomach
7	chr15:39982800-39985000	Enhancers	Fetal Lung	lung
8	chr15:39982800-39985200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:39982800-39986200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:39982800-39986400	Enhancers	Brain Germinal Matrix	brain
11	chr15:39983000-39984800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:39983000-39985800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:39983000-39989800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:39983200-39985000	Enhancers	Fetal Brain Female	brain
15	chr15:39983200-39985000	Weak transcription	Fetal Muscle Leg	muscle
16	chr15:39983200-39985400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:39983200-39985800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr15:39983200-39990800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:39983400-39985800	Enhancers	Fetal Brain Male	brain
20	chr15:39983600-39984800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr15:39983600-39986200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:39983800-39985000	Weak transcription	NHDF-Ad	bronchial
23	chr15:39983800-39985400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:39983800-39985800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr15:39983800-39987200	Weak transcription	K562	blood
26	chr15:39984000-39984400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:39984200-39984600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr15:39984200-39985600	Enhancers	Brain Anterior Caudate	brain
29	chr15:39984200-39986200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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