Variant report

Variant	rs11963748
Chromosome Location	chr6:106595445-106595446
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:106542849..106544432-chr6:106593680..106596197,2	K562	blood:
2	chr6:106593873..106598543-chr6:106600901..106604368,5	K562	blood:
3	chr6:106590295..106592947-chr6:106593391..106597445,3	K562	blood:
4	chr6:106587956..106591795-chr6:106592518..106598079,7	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11963681	1.00[ASN][1000 genomes]
rs17066638	1.00[ASN][1000 genomes]
rs17066720	1.00[ASN][1000 genomes]
rs17066751	1.00[ASN][1000 genomes]
rs17066757	1.00[ASN][1000 genomes]
rs17066765	1.00[ASN][1000 genomes]
rs17066773	1.00[ASN][1000 genomes]
rs2743561	1.00[ASN][1000 genomes]
rs34601838	1.00[ASN][1000 genomes]
rs55690521	1.00[ASN][1000 genomes]
rs55939014	1.00[ASN][1000 genomes]
rs56244906	1.00[ASN][1000 genomes]
rs56654457	1.00[ASN][1000 genomes]
rs57178542	1.00[ASN][1000 genomes]
rs57255548	1.00[ASN][1000 genomes]
rs57433728	1.00[ASN][1000 genomes]
rs57456032	1.00[ASN][1000 genomes]
rs57551512	1.00[ASN][1000 genomes]
rs57559815	1.00[ASN][1000 genomes]
rs57593555	1.00[ASN][1000 genomes]
rs57608855	1.00[ASN][1000 genomes]
rs58046598	1.00[ASN][1000 genomes]
rs58923051	1.00[ASN][1000 genomes]
rs59028211	1.00[ASN][1000 genomes]
rs59725708	1.00[ASN][1000 genomes]
rs60145393	1.00[ASN][1000 genomes]
rs60750215	1.00[ASN][1000 genomes]
rs60779729	1.00[ASN][1000 genomes]
rs61205213	1.00[ASN][1000 genomes]
rs6568430	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6929396	1.00[ASN][1000 genomes]
rs73761677	1.00[ASN][1000 genomes]
rs73761678	1.00[ASN][1000 genomes]
rs73761679	1.00[ASN][1000 genomes]
rs73761681	1.00[ASN][1000 genomes]
rs73761683	1.00[ASN][1000 genomes]
rs73761684	1.00[ASN][1000 genomes]
rs73774303	1.00[ASN][1000 genomes]
rs73774304	1.00[ASN][1000 genomes]
rs73774305	1.00[ASN][1000 genomes]
rs73775106	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73775107	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73775389	1.00[ASN][1000 genomes]
rs73775390	1.00[ASN][1000 genomes]
rs73775391	1.00[ASN][1000 genomes]
rs73775392	1.00[ASN][1000 genomes]
rs73775393	1.00[ASN][1000 genomes]
rs73775394	1.00[ASN][1000 genomes]
rs73775395	1.00[ASN][1000 genomes]
rs73775396	1.00[ASN][1000 genomes]
rs73775397	1.00[ASN][1000 genomes]
rs73775398	1.00[ASN][1000 genomes]
rs73775399	1.00[ASN][1000 genomes]
rs73775400	1.00[ASN][1000 genomes]
rs73775402	1.00[ASN][1000 genomes]
rs73775939	1.00[ASN][1000 genomes]
rs73776552	1.00[ASN][1000 genomes]
rs73776553	1.00[ASN][1000 genomes]
rs73776554	1.00[ASN][1000 genomes]
rs73776556	1.00[ASN][1000 genomes]
rs73776558	1.00[ASN][1000 genomes]
rs73776559	1.00[ASN][1000 genomes]
rs73776560	1.00[ASN][1000 genomes]
rs73778103	1.00[ASN][1000 genomes]
rs73778105	1.00[ASN][1000 genomes]
rs73778106	1.00[ASN][1000 genomes]
rs73778107	1.00[ASN][1000 genomes]
rs73778108	1.00[ASN][1000 genomes]
rs73778109	1.00[ASN][1000 genomes]
rs73778110	1.00[ASN][1000 genomes]
rs73778112	1.00[ASN][1000 genomes]
rs73778113	1.00[ASN][1000 genomes]
rs7746126	1.00[ASN][1000 genomes]
rs7769233	1.00[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	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1025900	chr6:106529777-106898421	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1018270	chr6:106531658-106908606	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv538399	chr6:106531658-106908606	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1832544	chr6:106539914-106642993	Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1035110	chr6:106557281-106802212	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv538400	chr6:106557281-106802212	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv1022855	chr6:106570926-106802072	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv538401	chr6:106570926-106802072	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv1019265	chr6:106587627-106727591	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538402	chr6:106587627-106727591	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
15	nsv1025963	chr6:106593639-106848778	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106593000-106596400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:106593200-106595600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:106593400-106595600	Enhancers	NHEK	skin
4	chr6:106593400-106595800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:106593600-106595600	Enhancers	NH-A	brain
6	chr6:106593600-106595600	Enhancers	NHDF-Ad	bronchial
7	chr6:106593600-106595600	Enhancers	Osteobl	bone
8	chr6:106593600-106595800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:106593600-106597000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr6:106593800-106595600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:106593800-106596800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr6:106593800-106596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:106593800-106596800	Weak transcription	Fetal Thymus	thymus
14	chr6:106593800-106597200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:106594000-106597400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr6:106594200-106597400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:106594400-106595600	Enhancers	Hela-S3	cervix
18	chr6:106594400-106595600	Enhancers	K562	blood
19	chr6:106594400-106597000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:106594400-106597000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:106594800-106595600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:106595000-106597600	Enhancers	GM12878-XiMat	blood
23	chr6:106595400-106595600	Enhancers	Duodenum Mucosa	Duodenum

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