Variant report

Variant	rs11072493
Chromosome Location	chr15:74829222-74829223
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:74829183-74829343	K562	blood:	n/a	n/a
2	POLR2A	chr15:74829166-74830845	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74823864..74826848-chr15:74827847..74829990,2	MCF-7	breast:
2	chr15:74822266..74825721-chr15:74827870..74831013,4	K562	blood:
3	chr15:74823237..74825654-chr15:74828712..74830605,2	K562	blood:
4	chr15:74827578..74829984-chr15:74833096..74835637,4	MCF-7	breast:
5	chr15:74827938..74830283-chr15:74836059..74838553,2	K562	blood:
6	chr15:74668521..74670719-chr15:74827986..74829879,2	K562	blood:
7	chr15:74822467..74830075-chr15:74830932..74835759,12	MCF-7	breast:

No data

Variant related genes	Relation type
ARID3B	TF binding region
ENSG00000179361	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1030889	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs10459648	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10851871	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs10851873	0.83[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11072490	0.83[ASN][1000 genomes]
rs11072492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11072494	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11072495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11072496	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11072497	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11072498	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11629749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11629946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11854461	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs12437519	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12439113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12441932	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12442013	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12442097	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12594447	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12909573	0.80[ASN][1000 genomes]
rs16969247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16969393	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs16969612	0.82[ASN][1000 genomes]
rs1821847	0.83[ASN][1000 genomes]
rs1821848	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1866113	0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs2068982	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2198843	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap]
rs2289187	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2289188	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2415241	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2415242	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2415245	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3985310	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4128436	0.93[YRI][hapmap]
rs4261483	0.83[ASN][1000 genomes]
rs4886601	0.89[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4887150	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4887151	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4887152	0.91[CEU][hapmap]
rs4887154	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs4887155	0.83[ASN][1000 genomes]
rs4887159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4887160	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4887162	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4887163	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4887166	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58473469	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6495105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6495106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs6495115	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6495116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6495117	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6495118	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6495121	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs7161903	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7163775	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7166656	0.83[ASN][1000 genomes]
rs7166701	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7167655	0.81[ASN][1000 genomes]
rs7171838	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7173006	0.83[ASN][1000 genomes]
rs7176095	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7176491	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7177407	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7178568	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74025818	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7497342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8023479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8023865	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8026181	0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8026923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8027066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8028163	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8028430	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8029116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8029215	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8036030	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs8036636	0.84[AMR][1000 genomes]
rs8037211	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs8037714	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8040745	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8041030	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8041807	0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8041889	0.85[EUR][1000 genomes]
rs8042832	0.83[ASN][1000 genomes]
rs8043082	0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9635320	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9672559	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74818200-74832400	Weak transcription	Pancreas	Pancrea
2	chr15:74822000-74832600	Weak transcription	Aorta	Aorta
3	chr15:74824000-74832000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:74824000-74832400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:74824000-74832400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:74824200-74832600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:74824400-74831800	Weak transcription	NHLF	lung
8	chr15:74824400-74832200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:74824400-74832400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:74824600-74829600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:74824600-74829800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:74824600-74832200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:74824600-74832200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:74824600-74832400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr15:74824800-74831600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:74824800-74832000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr15:74828000-74831800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:74828000-74832200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr15:74828200-74831600	Weak transcription	GM12878-XiMat	blood
20	chr15:74828200-74832200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:74828200-74832200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:74828200-74832400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:74828200-74832400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:74828400-74831800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:74828400-74832000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:74828400-74832400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:74828600-74829400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:74828600-74832400	Weak transcription	NH-A	brain
29	chr15:74828600-74832400	Weak transcription	Osteobl	bone
30	chr15:74828800-74831800	Weak transcription	HMEC	breast
31	chr15:74828800-74832000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:74828800-74832200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:74828800-74832200	Weak transcription	K562	blood
34	chr15:74828800-74832400	Weak transcription	Primary T cells from cord blood	blood
35	chr15:74829000-74831800	Weak transcription	Hela-S3	cervix
36	chr15:74829000-74832000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:74829000-74832000	Weak transcription	NHEK	skin
38	chr15:74829200-74831600	Weak transcription	Fetal Thymus	thymus

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