Variant report

Variant	rs6929342
Chromosome Location	chr6:25025539-25025540
allele	C/T
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	MAFK	chr6:25025524-25026147	K562	blood:	n/a	chr6:25025945-25025959 chr6:25025944-25025960 chr6:25025942-25025962 chr6:25025941-25025956
2	MAFK	chr6:25025505-25026128	H1-hESC	embryonic stem cell:	n/a	chr6:25025945-25025959 chr6:25025944-25025960 chr6:25025942-25025962 chr6:25025941-25025956
3	BACH1	chr6:25025480-25026231	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25023746..25026604-chr6:25028842..25032564,3	K562	blood:
2	chr6:25024268..25027647-chr6:25028842..25032564,4	K562	blood:

Variant related genes	Relation type
ASS1P1	TF binding region
ENSG00000244618	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs441342	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6906443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929348	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]
rs6929749	0.91[CEU][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6934141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348655	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9348656	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9348657	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9348658	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9348659	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9356953	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9356954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356955	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9356957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9356958	0.85[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9358823	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9358824	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9358825	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9358826	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9366595	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9366598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9366599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9379706	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9379707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9393607	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9393608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9467378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv883482	chr6:24926730-25035920	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1030634	chr6:24938277-25040161	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv830610	chr6:24951741-25124239	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25011200-25035600	Weak transcription	Spleen	Spleen
2	chr6:25015800-25027000	Weak transcription	Esophagus	oesophagus
3	chr6:25018200-25027400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:25018400-25025600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:25018600-25026000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:25024200-25027000	Weak transcription	Small Intestine	intestine
7	chr6:25024600-25025600	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr6:25024600-25025600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:25024600-25025800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:25024600-25026000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:25024600-25027000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:25024600-25027200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:25024600-25027600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:25024800-25025800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:25024800-25027200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:25024800-25027400	Enhancers	Primary hematopoietic stem cells	blood
17	chr6:25024800-25027600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:25024800-25027600	Enhancers	HMEC	breast
19	chr6:25024800-25028200	Enhancers	NHEK	skin
20	chr6:25024800-25028400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:25025000-25025600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr6:25025000-25026600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:25025000-25027000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr6:25025000-25027400	Enhancers	Primary T cells from cord blood	blood
25	chr6:25025000-25027400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr6:25025000-25028000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:25025000-25028600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr6:25025200-25025600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:25025200-25026400	Enhancers	Thymus	Thymus
30	chr6:25025200-25026800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:25025200-25028600	Enhancers	Fetal Thymus	thymus
32	chr6:25025400-25025800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr6:25025400-25025800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:25025400-25026000	Weak transcription	Dnd41	blood
35	chr6:25025400-25026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr6:25025400-25026800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr6:25025400-25027000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:25025400-25027000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr6:25025400-25027200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:25025400-25028400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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