Variant report

Variant	rs12651879
Chromosome Location	chr5:43553849-43553850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
2	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
3	chr5:43552652..43554518-chr5:43592986..43594640,2	K562	blood:
4	chr5:43513876..43516684-chr5:43553510..43558785,6	MCF-7	breast:
5	chr5:43531285..43533909-chr5:43551302..43554401,3	K562	blood:
6	chr5:43481238..43485996-chr5:43553681..43560344,12	K562	blood:
7	chr5:43552832..43560830-chr5:43598877..43605844,26	MCF-7	breast:
8	chr5:43479992..43486255-chr5:43553479..43560182,13	MCF-7	breast:
9	chr5:43490501..43492495-chr5:43553054..43555235,2	MCF-7	breast:
10	chr5:43482543..43484624-chr5:43552279..43554003,2	MCF-7	breast:
11	chr5:43552178..43554497-chr5:43589226..43592032,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248240	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000248092	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10036954	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10038608	0.82[EUR][1000 genomes]
rs10042992	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10045455	0.83[EUR][1000 genomes]
rs10053229	0.90[ASN][1000 genomes]
rs10058558	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10059912	0.94[ASN][1000 genomes]
rs10059993	0.84[ASN][1000 genomes]
rs10061165	0.83[EUR][1000 genomes]
rs10065689	0.84[ASN][1000 genomes]
rs10066408	0.90[ASN][1000 genomes]
rs10068064	0.90[ASN][1000 genomes]
rs10447144	0.80[EUR][1000 genomes]
rs10462051	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10473311	0.84[EUR][1000 genomes]
rs10941640	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11949083	0.88[ASN][1000 genomes]
rs11952832	0.80[ASN][1000 genomes]
rs11958046	0.88[ASN][1000 genomes]
rs12332560	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12521249	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12652547	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12659369	0.82[EUR][1000 genomes]
rs12697457	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13185343	0.83[EUR][1000 genomes]
rs13189004	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13189484	0.89[ASN][1000 genomes]
rs13359906	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1366410	0.83[ASN][1000 genomes]
rs1389868	0.80[EUR][1000 genomes]
rs1389869	0.80[EUR][1000 genomes]
rs1428640	0.81[EUR][1000 genomes]
rs2013173	0.80[EUR][1000 genomes]
rs2132000	0.83[EUR][1000 genomes]
rs2132003	0.82[ASN][1000 genomes]
rs2172763	0.82[EUR][1000 genomes]
rs28437972	0.94[ASN][1000 genomes]
rs28606458	0.84[ASN][1000 genomes]
rs34007811	0.86[EUR][1000 genomes]
rs35710460	0.86[EUR][1000 genomes]
rs35881272	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36013953	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3776423	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3806870	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4072918	0.94[ASN][1000 genomes]
rs4072919	0.94[ASN][1000 genomes]
rs4073848	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4073850	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4073851	0.88[EUR][1000 genomes]
rs4074777	0.90[ASN][1000 genomes]
rs4242099	0.80[EUR][1000 genomes]
rs4308491	0.82[EUR][1000 genomes]
rs4331909	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4367306	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4386738	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4415083	0.83[EUR][1000 genomes]
rs4428418	0.92[ASN][1000 genomes]
rs4467713	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4513704	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4535459	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4541663	0.81[EUR][1000 genomes]
rs4576155	0.85[EUR][1000 genomes]
rs4866746	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4866833	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4866835	0.94[ASN][1000 genomes]
rs55641556	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55667604	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55855322	0.94[ASN][1000 genomes]
rs56008952	0.92[ASN][1000 genomes]
rs56097465	0.92[ASN][1000 genomes]
rs56333629	0.86[ASN][1000 genomes]
rs56400900	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57403343	0.90[ASN][1000 genomes]
rs57547662	0.84[EUR][1000 genomes]
rs57597020	0.88[EUR][1000 genomes]
rs59001943	0.94[ASN][1000 genomes]
rs59224335	0.92[ASN][1000 genomes]
rs60297702	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6451695	0.84[EUR][1000 genomes]
rs6451696	0.84[EUR][1000 genomes]
rs6451698	0.84[EUR][1000 genomes]
rs6451703	0.83[EUR][1000 genomes]
rs6451704	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6451705	0.82[ASN][1000 genomes]
rs6451706	0.83[EUR][1000 genomes]
rs6451712	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67261887	0.81[ASN][1000 genomes]
rs67466542	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67581152	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6860493	0.86[ASN][1000 genomes]
rs6861704	0.82[EUR][1000 genomes]
rs6862102	0.84[EUR][1000 genomes]
rs6865217	0.82[EUR][1000 genomes]
rs6866325	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6866802	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6869933	0.94[ASN][1000 genomes]
rs6870018	0.82[EUR][1000 genomes]
rs6870783	0.83[EUR][1000 genomes]
rs6883661	0.81[EUR][1000 genomes]
rs6884661	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6885679	0.90[ASN][1000 genomes]
rs6891363	0.94[ASN][1000 genomes]
rs6895327	0.90[ASN][1000 genomes]
rs6896693	0.82[ASN][1000 genomes]
rs6898866	0.88[ASN][1000 genomes]
rs72756535	0.90[ASN][1000 genomes]
rs7705166	0.88[ASN][1000 genomes]
rs7706431	0.88[ASN][1000 genomes]
rs7708072	0.80[AFR][1000 genomes]
rs7710628	0.90[ASN][1000 genomes]
rs7713479	0.92[ASN][1000 genomes]
rs7715782	0.96[ASN][1000 genomes]
rs7717636	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7732656	0.86[ASN][1000 genomes]
rs7734393	0.91[EUR][1000 genomes]
rs7735243	0.83[EUR][1000 genomes]
rs7736615	0.96[ASN][1000 genomes]
rs9292883	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9687341	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9885189	0.98[ASN][1000 genomes]
rs9885467	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43523400-43554600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr5:43523600-43554200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:43524000-43555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:43526000-43554200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:43527400-43554200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:43527600-43554400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr5:43527600-43555600	Strong transcription	Fetal Thymus	thymus
8	chr5:43527600-43556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:43528000-43554800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:43532800-43554000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr5:43534600-43554400	Weak transcription	Aorta	Aorta
12	chr5:43534800-43554000	Weak transcription	Right Ventricle	heart
13	chr5:43538800-43554600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:43539800-43554200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:43541000-43554200	Weak transcription	Stomach Mucosa	stomach
16	chr5:43542800-43556000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:43542800-43556000	Weak transcription	Esophagus	oesophagus
18	chr5:43544400-43554200	Strong transcription	Primary B cells from cord blood	blood
19	chr5:43544400-43554200	Strong transcription	NHLF	lung
20	chr5:43547600-43555200	Weak transcription	Colonic Mucosa	Colon
21	chr5:43547800-43554200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:43547800-43554800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:43547800-43556000	Weak transcription	Gastric	stomach
24	chr5:43548000-43554000	Weak transcription	Pancreas	Pancrea
25	chr5:43548000-43554200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:43548000-43554400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:43548000-43555200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr5:43548000-43556000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:43548200-43555200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:43548400-43554200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:43548800-43554000	Weak transcription	HSMMtube	muscle
32	chr5:43548800-43554800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:43549400-43554000	Strong transcription	HUVEC	blood vessel
34	chr5:43549600-43554000	Weak transcription	Left Ventricle	heart
35	chr5:43549600-43555400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr5:43549600-43555800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr5:43549600-43556200	Weak transcription	Spleen	Spleen
38	chr5:43550200-43554000	Weak transcription	Fetal Intestine Small	intestine
39	chr5:43550200-43554000	Strong transcription	Fetal Muscle Leg	muscle
40	chr5:43550200-43554000	Weak transcription	Fetal Stomach	stomach
41	chr5:43550200-43556000	Weak transcription	Lung	lung
42	chr5:43550400-43554000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:43550400-43554400	Strong transcription	A549	lung
44	chr5:43550400-43554600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr5:43550400-43555400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr5:43550400-43555600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr5:43550600-43554600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:43550600-43554800	Genic enhancers	Primary T cells from cord blood	blood
49	chr5:43550800-43554000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:43550800-43554800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood

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