Variant report

Variant	rs9968068
Chromosome Location	chr3:179034634-179034635
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:179032679..179035245-chr3:179062928..179065481,2	K562	blood:
2	chr3:179033856..179037511-chr3:179278179..179282025,3	K562	blood:
3	chr3:178977724..178980526-chr3:179032254..179035078,3	K562	blood:
4	chr3:178865120..178868687-chr3:179031866..179035655,4	K562	blood:
5	chr3:178865074..178866620-chr3:179032447..179034974,3	K562	blood:

Variant related genes	Relation type
ENSG00000121879	Chromatin interaction
ENSG00000171109	Chromatin interaction
ENSG00000240429	Chromatin interaction
ENSG00000229102	Chromatin interaction
ENSG00000136518	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11916825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11919840	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11925064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11925248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11927084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13317510	0.89[AMR][1000 genomes]
rs16830445	0.89[AMR][1000 genomes]
rs16830460	0.89[AMR][1000 genomes]
rs28512433	0.89[AMR][1000 genomes]
rs28522651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55805052	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56210820	0.89[AMR][1000 genomes]
rs56265474	0.89[AMR][1000 genomes]
rs56280435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57148977	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57526364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57795346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58741861	0.89[AMR][1000 genomes]
rs59062224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59333548	0.89[AMR][1000 genomes]
rs59511701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59564372	1.00[AMR][1000 genomes]
rs59833817	1.00[EUR][1000 genomes]
rs60191176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60746059	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61246771	0.89[AMR][1000 genomes]
rs61325843	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6778235	0.89[AMR][1000 genomes]
rs6800044	0.89[AMR][1000 genomes]
rs6808033	0.89[AMR][1000 genomes]
rs6808866	1.00[AMR][1000 genomes]
rs73043406	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043407	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043409	1.00[EUR][1000 genomes]
rs73043413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73045191	0.89[AMR][1000 genomes]
rs73045195	0.89[AMR][1000 genomes]
rs73045198	0.89[AMR][1000 genomes]
rs73059758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73059766	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355835	0.89[AMR][1000 genomes]
rs73883508	0.89[AMR][1000 genomes]
rs73883509	0.89[AMR][1000 genomes]
rs73886620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7611533	0.89[AMR][1000 genomes]
rs7625719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814990	0.89[AMR][1000 genomes]
rs9829054	0.89[AMR][1000 genomes]
rs9834493	0.89[AMR][1000 genomes]
rs9861354	0.89[AMR][1000 genomes]
rs9864857	0.89[AMR][1000 genomes]
rs9872939	0.89[AMR][1000 genomes]
rs9884070	0.89[AMR][1000 genomes]
rs9968069	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9968075	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9968076	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv1002962	chr3:178943753-179224548	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv536815	chr3:178943753-179224548	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1003021	chr3:178944806-179246179	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1006584	chr3:178944822-179241429	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv829806	chr3:178952363-179154373	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1010137	chr3:178962897-179050787	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
10	nsv471116	chr3:178968634-179252263	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv592650	chr3:178968634-179252263	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv1010513	chr3:178976107-179196274	Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	nsv536816	chr3:178976107-179196274	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
14	nsv1003514	chr3:178990037-179177029	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179033600-179034800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr3:179034000-179035600	Weak transcription	HepG2	liver
3	chr3:179034000-179039000	Weak transcription	K562	blood
4	chr3:179034200-179039200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:179034200-179039200	Weak transcription	Fetal Kidney	kidney
6	chr3:179034400-179038800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:179034400-179039000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:179034400-179039000	Weak transcription	Osteobl	bone
9	chr3:179034400-179039200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:179034400-179039200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:179034400-179039200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:179034400-179039200	Weak transcription	Fetal Thymus	thymus
13	chr3:179034400-179039200	Weak transcription	GM12878-XiMat	blood
14	chr3:179034400-179039400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:179034400-179039400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr3:179034400-179039400	Weak transcription	Hela-S3	cervix
17	chr3:179034400-179039600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:179034400-179039800	Weak transcription	Primary B cells from cord blood	blood
19	chr3:179034600-179038800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:179034600-179038800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:179034600-179039200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr3:179034600-179039200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr3:179034600-179039200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:179034600-179039200	Weak transcription	Dnd41	blood
25	chr3:179034600-179039400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr3:179034600-179039400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:179034600-179039600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr3:179034600-179039600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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