Variant report

Variant	rs7987293
Chromosome Location	chr13:50049150-50049151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12050042	0.97[ASN][1000 genomes]
rs1409016	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543514	0.83[EUR][1000 genomes]
rs1555530	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1812	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1980794	0.97[ASN][1000 genomes]
rs1980795	0.97[ASN][1000 genomes]
rs1998782	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2057413	0.81[EUR][1000 genomes]
rs2057415	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2057417	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2407689	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2407692	0.86[EUR][1000 genomes]
rs3764085	0.97[ASN][1000 genomes]
rs3764090	0.81[EUR][1000 genomes]
rs3764091	0.81[EUR][1000 genomes]
rs3794381	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4142285	0.81[EUR][1000 genomes]
rs4468500	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4941642	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942831	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4942832	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6561525	0.86[EUR][1000 genomes]
rs71188363	0.90[ASN][1000 genomes]
rs7139634	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs721458	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7321228	0.81[EUR][1000 genomes]
rs7321670	0.83[EUR][1000 genomes]
rs7328782	0.84[EUR][1000 genomes]
rs7329078	0.88[ASN][1000 genomes]
rs7330512	0.81[EUR][1000 genomes]
rs7338755	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7982297	0.83[EUR][1000 genomes]
rs7982598	0.83[EUR][1000 genomes]
rs7992603	0.82[EUR][1000 genomes]
rs7994115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7994130	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7996852	0.82[EUR][1000 genomes]
rs7998022	0.81[EUR][1000 genomes]
rs7998427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7998660	0.81[EUR][1000 genomes]
rs9316453	0.83[EUR][1000 genomes]
rs9526564	0.81[EUR][1000 genomes]
rs9535248	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535249	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568219	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568223	0.97[ASN][1000 genomes]
rs959421	0.81[EUR][1000 genomes]
rs967163	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs967164	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430564	chr13:49945247-50059354	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv430571	chr13:49961137-50059354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv523648	chr13:50005444-50086266	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv561613	chr13:50013622-50086266	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv900070	chr13:50013622-50087142	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv561614	chr13:50042983-50086253	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv561615	chr13:50042983-50086266	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7987293	PHF11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50020200-50068400	Weak transcription	HMEC	breast
2	chr13:50022000-50069000	Weak transcription	Fetal Brain Male	brain
3	chr13:50023000-50068000	Weak transcription	Hela-S3	cervix
4	chr13:50031800-50068800	Weak transcription	Psoas Muscle	Psoas
5	chr13:50034400-50050800	Weak transcription	NHEK	skin
6	chr13:50034400-50052200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:50034400-50068800	Weak transcription	NH-A	brain
8	chr13:50036400-50068600	Weak transcription	Stomach Mucosa	stomach
9	chr13:50036600-50068000	Weak transcription	K562	blood
10	chr13:50037800-50050200	Weak transcription	Osteobl	bone
11	chr13:50037800-50050600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:50037800-50050800	Weak transcription	Brain Angular Gyrus	brain
13	chr13:50037800-50051000	Weak transcription	Spleen	Spleen
14	chr13:50037800-50064000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:50037800-50068400	Weak transcription	HUVEC	blood vessel
16	chr13:50037800-50069000	Weak transcription	Colonic Mucosa	Colon
17	chr13:50038000-50050200	Weak transcription	Esophagus	oesophagus
18	chr13:50038000-50050200	Weak transcription	HSMMtube	muscle
19	chr13:50038000-50050200	Weak transcription	NHLF	lung
20	chr13:50038000-50050800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:50038000-50051200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:50038000-50062800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr13:50038000-50063400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr13:50038000-50063600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:50038000-50063800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr13:50038000-50068800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr13:50038200-50050800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:50038200-50051000	Weak transcription	Aorta	Aorta
29	chr13:50038200-50054200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr13:50038200-50062400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr13:50038200-50063400	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr13:50038400-50049200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr13:50038400-50049400	Weak transcription	Brain Substantia Nigra	brain
34	chr13:50038400-50050200	Weak transcription	Fetal Brain Female	brain
35	chr13:50038400-50050200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr13:50038400-50050600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:50038400-50050800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr13:50038400-50062200	Strong transcription	Primary T cells from cord blood	blood
39	chr13:50038400-50066800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr13:50038400-50066800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:50038400-50069000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr13:50038400-50069400	Weak transcription	Small Intestine	intestine
43	chr13:50038600-50051000	Weak transcription	Brain Germinal Matrix	brain
44	chr13:50038600-50052200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr13:50038600-50053000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:50038600-50068800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:50038800-50069000	Weak transcription	HSMM	muscle
48	chr13:50039000-50049200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr13:50039000-50050600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr13:50039000-50068200	Weak transcription	Muscle Satellite Cultured Cells	--

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