Variant report

Variant	rs17144883
Chromosome Location	chr5:118368516-118368517
allele	A/G
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	EP300	chr5:118368384-118368709	GM12878	blood:	n/a	chr5:118368578-118368592
2	MXI1	chr5:118368378-118368673	GM12878	blood:	n/a	n/a
3	WRNIP1	chr5:118368460-118368626	GM12878	blood:	n/a	n/a
4	USF2	chr5:118368371-118368669	GM12878	blood:	n/a	n/a
5	TBP	chr5:118368430-118368715	GM12878	blood:	n/a	n/a
6	USF1	chr5:118368464-118368680	K562	blood:	n/a	n/a
7	MAX	chr5:118368457-118368687	GM12878	blood:	n/a	n/a
8	POLR2A	chr5:118368474-118368529	Gliobla	brain:	n/a	n/a
9	EBF1	chr5:118368452-118368640	GM12878	blood:	n/a	n/a
10	BHLHE40	chr5:118368320-118368755	GM12878	blood:	n/a	n/a
11	BCLAF1	chr5:118368349-118368736	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118348689..118350989-chr5:118368039..118370331,2	MCF-7	breast:
2	chr5:118359425..118361403-chr5:118368214..118369778,2	K562	blood:

Variant related genes	Relation type
DMXL1	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11958239	0.81[EUR][1000 genomes]
rs11959589	0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12109252	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs1448479	1.00[JPT][hapmap]
rs17144714	1.00[JPT][hapmap]
rs17144872	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17144877	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144885	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144893	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17381247	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs17440213	1.00[JPT][hapmap]
rs2029036	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs2084460	0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2115301	1.00[JPT][hapmap]
rs2217310	1.00[CHB][hapmap]
rs299218	0.92[EUR][1000 genomes]
rs34671950	0.92[ASN][1000 genomes]
rs3813297	1.00[JPT][hapmap]
rs3813298	1.00[JPT][hapmap]
rs4392657	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895184	1.00[JPT][hapmap]
rs4895353	1.00[JPT][hapmap]
rs4895354	1.00[JPT][hapmap]
rs55741500	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55805551	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56664193	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862297	1.00[JPT][hapmap]
rs72784039	0.82[ASN][1000 genomes]
rs7706037	0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7710339	1.00[JPT][hapmap]
rs7723221	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7724403	1.00[JPT][hapmap]
rs7724753	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1018539	chr5:118355284-118445244	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118366000-118369200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:118366000-118369200	Flanking Active TSS	GM12878-XiMat	blood
3	chr5:118366200-118369400	Enhancers	Fetal Thymus	thymus
4	chr5:118366600-118368600	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:118366600-118369200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:118366600-118369200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:118366600-118369200	Enhancers	Thymus	Thymus
8	chr5:118366600-118369400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr5:118366800-118369200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:118367200-118369000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:118367400-118369400	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:118367600-118368600	Enhancers	Dnd41	blood
13	chr5:118367600-118369200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:118367600-118369200	Enhancers	Duodenum Mucosa	Duodenum
15	chr5:118367800-118368800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:118367800-118368800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:118367800-118369000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:118367800-118369200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr5:118368000-118369000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:118368000-118371600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:118368000-118371800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:118368000-118371800	Weak transcription	NHDF-Ad	bronchial
23	chr5:118368000-118373600	Weak transcription	Pancreas	Pancrea
24	chr5:118368200-118368600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:118368200-118369200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr5:118368200-118369200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:118368400-118368800	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr5:118368400-118368800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:118368400-118369200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr5:118368400-118369200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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