Variant report

Variant	rs11854483
Chromosome Location	chr15:82559558-82559559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr15:82559553-82559898	K562	blood:	n/a	n/a
2	PML	chr15:82559537-82559942	K562	blood:	n/a	n/a
3	CEBPD	chr15:82559426-82559961	K562	blood:	n/a	n/a
4	TAL1	chr15:82559472-82559908	K562	blood:	n/a	n/a
5	TBL1XR1	chr15:82559456-82559869	K562	blood:	n/a	n/a
6	POLR2A	chr15:82559309-82559751	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr15:82559489-82559953	K562	blood:	n/a	n/a
8	GATA2	chr15:82559478-82559952	K562	blood:	n/a	n/a
9	GATA1	chr15:82558651-82560205	K562	blood:	n/a	n/a
10	GATA1	chr15:82559411-82559971	PBDE	blood:	n/a	n/a
11	ATF1	chr15:82559461-82559850	K562	blood:	n/a	n/a
12	EP300	chr15:82559481-82559853	K562	blood:	n/a	n/a
13	IRF1	chr15:82559433-82560025	K562	blood:	n/a	n/a
14	TEAD4	chr15:82559507-82559929	K562	blood:	n/a	n/a
15	TEAD4	chr15:82559373-82559999	K562	blood:	n/a	n/a
16	ARID3A	chr15:82559315-82559851	K562	blood:	n/a	chr15:82559334-82559350
17	IRF1	chr15:82559472-82559989	K562	blood:	n/a	n/a
18	STAT5A	chr15:82559458-82559943	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:82558957..82560704-chr15:82563268..82565317,2	K562	blood:

No data

Variant related genes	Relation type
EFTUD1	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11073036	0.87[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs11630197	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11631813	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11633000	0.95[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11639440	0.93[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs11854289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324875	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1501367	0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1566559	0.91[ASN][1000 genomes]
rs1566560	0.91[ASN][1000 genomes]
rs1566561	0.84[ASN][1000 genomes]
rs16973457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1846908	0.91[ASN][1000 genomes]
rs1948741	0.81[ASN][1000 genomes]
rs1948742	0.82[ASN][1000 genomes]
rs1972460	0.87[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2016372	0.85[ASN][1000 genomes]
rs2047679	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs2134046	0.89[JPT][hapmap]
rs2457497	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2665103	0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs28454949	0.94[ASN][1000 genomes]
rs28522807	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28564699	0.81[ASN][1000 genomes]
rs28610286	0.85[ASN][1000 genomes]
rs3759800	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs3902959	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs4238534	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4267268	0.83[ASN][1000 genomes]
rs4296215	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4778674	0.87[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4778986	0.87[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs4778987	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4778990	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56398167	0.83[ASN][1000 genomes]
rs61554133	0.89[ASN][1000 genomes]
rs62012054	0.80[ASN][1000 genomes]
rs62012055	0.82[ASN][1000 genomes]
rs7167504	0.82[ASN][1000 genomes]
rs7176926	0.93[ASN][1000 genomes]
rs72749540	0.81[ASN][1000 genomes]
rs72749557	0.82[ASN][1000 genomes]
rs72749560	0.82[ASN][1000 genomes]
rs72749561	0.82[ASN][1000 genomes]
rs72749564	0.83[ASN][1000 genomes]
rs72749586	0.85[ASN][1000 genomes]
rs7403041	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7403244	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs8025964	0.83[ASN][1000 genomes]
rs8027301	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8027661	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8030210	0.81[ASN][1000 genomes]
rs8030250	0.87[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs8032633	0.81[ASN][1000 genomes]
rs8033313	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs905450	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs9972440	0.87[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	nsv457212	chr15:82454283-82573255	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv570243	chr15:82454283-82573255	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv457213	chr15:82456227-82573255	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv570244	chr15:82456227-82573255	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv570245	chr15:82456227-82591082	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1041040	chr15:82465124-82606410	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv1801737	chr15:82468455-82589044	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv570246	chr15:82485707-82581264	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1041506	chr15:82496164-82581427	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1798145	chr15:82506790-82581264	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv904440	chr15:82524544-82591082	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv904441	chr15:82532963-82580736	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv904442	chr15:82540174-82571046	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1054025	chr15:82540486-83058214	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv904443	chr15:82553472-82571780	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82555400-82565400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:82555800-82560200	Weak transcription	Thymus	Thymus
3	chr15:82555800-82561200	Weak transcription	Fetal Thymus	thymus
4	chr15:82555800-82566400	Weak transcription	Ovary	ovary
5	chr15:82556000-82559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr15:82556000-82559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:82556000-82559600	Weak transcription	HMEC	breast
8	chr15:82556000-82560800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:82556000-82561000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr15:82556000-82561200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:82556000-82561400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:82556000-82561600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:82556000-82563200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:82556000-82566400	Weak transcription	Fetal Lung	lung
15	chr15:82556200-82560000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:82556200-82560600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:82556200-82567400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:82556800-82560600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:82558400-82560400	Enhancers	Primary B cells from peripheral blood	blood
20	chr15:82558400-82561000	Enhancers	Primary B cells from cord blood	blood
21	chr15:82558600-82559600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr15:82558600-82559800	Enhancers	HUVEC	blood vessel
23	chr15:82558600-82560200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr15:82558600-82560200	Enhancers	Fetal Heart	heart
25	chr15:82558600-82560400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr15:82558600-82560600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:82558600-82561800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr15:82558600-82562000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr15:82558600-82562000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr15:82558600-82562200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr15:82558800-82559600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:82558800-82559600	Enhancers	Primary hematopoietic stem cells	blood
33	chr15:82558800-82559600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:82558800-82559800	Enhancers	Stomach Mucosa	stomach
35	chr15:82558800-82561200	Enhancers	NHEK	skin
36	chr15:82558800-82562000	Enhancers	Primary T cells from cord blood	blood
37	chr15:82559000-82559800	Flanking Active TSS	K562	blood
38	chr15:82559200-82559600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr15:82559200-82559800	Enhancers	GM12878-XiMat	blood
40	chr15:82559400-82559600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr15:82559400-82559600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr15:82559400-82559800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:82559400-82560400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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