Variant report

Variant	rs10512866
Chromosome Location	chr5:44823953-44823954
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:44823456-44824749	K562	blood:	n/a	n/a
2	POLR2A	chr5:44823642-44824561	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:44818219..44821058-chr5:44821890..44824873,2	MCF-7	breast:
2	chr5:44822913..44824957-chr5:44836679..44838999,2	K562	blood:
3	chr5:44821717..44824511-chr5:44825492..44828126,3	K562	blood:
4	chr5:44819705..44824396-chr5:44829069..44835270,7	K562	blood:

Variant related genes	Relation type
ENSG00000272335	TF binding region
ENSG00000272335	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11951477	0.91[EUR][1000 genomes]
rs11957933	0.91[EUR][1000 genomes]
rs13153376	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13153426	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162944	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163070	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165641	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166622	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167135	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167593	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13172191	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173899	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180428	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs13183825	0.91[EUR][1000 genomes]
rs13184849	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185697	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187122	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13188873	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13188895	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901954	0.96[EUR][1000 genomes]
rs16901958	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901986	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901987	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2330571	0.88[EUR][1000 genomes]
rs34094652	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34098474	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34133773	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34172556	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34216230	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34282174	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34544432	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34918593	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34942360	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35241613	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35278372	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35472604	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35534193	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564441	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35842403	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35850760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35868527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36163058	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4398644	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57288883	0.91[EUR][1000 genomes]
rs58871041	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59337658	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60303396	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60772043	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61695869	1.00[ASN][1000 genomes]
rs6451785	0.91[EUR][1000 genomes]
rs6860030	0.96[EUR][1000 genomes]
rs6869608	0.96[EUR][1000 genomes]
rs6870104	0.96[EUR][1000 genomes]
rs6870510	0.96[EUR][1000 genomes]
rs6876888	0.96[EUR][1000 genomes]
rs6877331	0.91[EUR][1000 genomes]
rs6877454	0.96[EUR][1000 genomes]
rs6881573	0.96[EUR][1000 genomes]
rs6882983	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891637	0.91[EUR][1000 genomes]
rs6893211	0.96[EUR][1000 genomes]
rs71590654	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73752417	1.00[ASN][1000 genomes]
rs73752418	1.00[ASN][1000 genomes]
rs7704815	0.91[EUR][1000 genomes]
rs7710153	0.96[EUR][1000 genomes]
rs7726555	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735466	1.00[EUR][1000 genomes]
rs7736197	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv880712	chr5:44777878-44842260	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv881564	chr5:44783255-44914579	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv881629	chr5:44796042-44836788	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv881184	chr5:44796042-44842260	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv880618	chr5:44800665-44836788	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv881418	chr5:44800665-44869100	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv880397	chr5:44800665-44939293	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv462127	chr5:44803749-44834233	Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv597934	chr5:44803749-44834233	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv880838	chr5:44805926-44836788	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv881498	chr5:44805926-44842260	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44810000-44828000	Weak transcription	Gastric	stomach
2	chr5:44810000-44839000	Weak transcription	Pancreas	Pancrea
3	chr5:44810200-44837600	Weak transcription	Esophagus	oesophagus
4	chr5:44810800-44828000	Weak transcription	Right Ventricle	heart
5	chr5:44810800-44829400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:44810800-44832200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:44810800-44833000	Weak transcription	Psoas Muscle	Psoas
8	chr5:44810800-44835800	Weak transcription	Aorta	Aorta
9	chr5:44811000-44829400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:44811200-44835400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:44811400-44838400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr5:44811800-44824600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:44811800-44824600	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:44812000-44824600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:44812200-44824600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:44812400-44825800	Weak transcription	Fetal Brain Male	brain
17	chr5:44813800-44824600	Strong transcription	Hela-S3	cervix
18	chr5:44814200-44825800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:44814200-44829400	Weak transcription	Brain Germinal Matrix	brain
20	chr5:44814800-44839200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr5:44815000-44826200	Weak transcription	Brain Angular Gyrus	brain
22	chr5:44815000-44832800	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:44815400-44826000	Weak transcription	Brain Substantia Nigra	brain
24	chr5:44815400-44830800	Weak transcription	Fetal Heart	heart
25	chr5:44815800-44827600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:44816000-44827600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:44816000-44836400	Weak transcription	Ovary	ovary
28	chr5:44816200-44826800	Weak transcription	HUVEC	blood vessel
29	chr5:44816600-44826000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:44816600-44829200	Weak transcription	NHDF-Ad	bronchial
31	chr5:44816600-44831400	Weak transcription	Small Intestine	intestine
32	chr5:44817200-44824400	Weak transcription	Fetal Lung	lung
33	chr5:44817200-44824400	Weak transcription	HepG2	liver
34	chr5:44817200-44833600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:44817200-44839200	Weak transcription	Brain Anterior Caudate	brain
36	chr5:44817400-44827400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:44817800-44839200	Weak transcription	Left Ventricle	heart
38	chr5:44818200-44830200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr5:44818600-44824400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr5:44818800-44831800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr5:44819000-44824200	Weak transcription	Placenta	Placenta
42	chr5:44819000-44831400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:44819000-44839200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:44819400-44826200	Weak transcription	Fetal Brain Female	brain
45	chr5:44819400-44838200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr5:44819600-44824200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:44819800-44830000	Weak transcription	Adipose Nuclei	Adipose
48	chr5:44820000-44824600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:44820000-44824600	Weak transcription	HMEC	breast
50	chr5:44820000-44828400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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