Variant report

Variant	rs12191005
Chromosome Location	chr6:119018279-119018280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119012354..119023494-chr6:119027532..119033557,15	K562	blood:
2	chr6:119018074..119021442-chr6:119030163..119033540,4	K562	blood:
3	chr6:119002292..119005255-chr6:119017824..119020721,2	K562	blood:
4	chr6:119013493..119017016-chr6:119017311..119020424,5	K562	blood:

Variant related genes	Relation type
ENSG00000111860	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10080340	0.83[AMR][1000 genomes]
rs10155773	0.83[AMR][1000 genomes]
rs10457339	0.83[AMR][1000 genomes]
rs10457340	0.83[AMR][1000 genomes]
rs10457346	0.87[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11153749	0.83[AMR][1000 genomes]
rs11153762	0.83[AMR][1000 genomes]
rs12189671	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12190964	0.83[AMR][1000 genomes]
rs12191529	0.83[AMR][1000 genomes]
rs12191962	0.83[AMR][1000 genomes]
rs12192532	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12197348	0.83[AMR][1000 genomes]
rs12200660	0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12201928	0.81[EUR][1000 genomes]
rs12202466	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12204374	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12205793	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12206369	0.83[AMR][1000 genomes]
rs12206459	0.83[AMR][1000 genomes]
rs12207554	0.83[AMR][1000 genomes]
rs12209500	0.83[AMR][1000 genomes]
rs12209566	0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12211934	0.83[AMR][1000 genomes]
rs12212089	0.83[AMR][1000 genomes]
rs12213494	0.81[EUR][1000 genomes]
rs12215364	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12215456	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12215565	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13328242	0.83[AMR][1000 genomes]
rs13437148	0.83[AMR][1000 genomes]
rs13437314	0.83[AMR][1000 genomes]
rs60500545	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6903291	0.83[AMR][1000 genomes]
rs6904344	0.83[AMR][1000 genomes]
rs7755203	0.83[AMR][1000 genomes]
rs7759420	0.83[AMR][1000 genomes]
rs7764014	0.83[AMR][1000 genomes]
rs9320657	0.83[AMR][1000 genomes]
rs9320659	0.83[AMR][1000 genomes]
rs9320661	0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9320662	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9372510	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9481818	0.83[AMR][1000 genomes]
rs9481822	0.83[AMR][1000 genomes]
rs9481823	0.83[AMR][1000 genomes]
rs9481824	0.83[AMR][1000 genomes]
rs9481829	0.83[AMR][1000 genomes]
rs9481830	0.83[AMR][1000 genomes]
rs9481835	0.83[AMR][1000 genomes]
rs9481839	0.83[AMR][1000 genomes]
rs9489415	0.83[AMR][1000 genomes]
rs9489422	0.83[AMR][1000 genomes]
rs9489427	0.83[AMR][1000 genomes]
rs9489430	0.83[AMR][1000 genomes]
rs9489435	0.83[AMR][1000 genomes]
rs9489451	0.83[AMR][1000 genomes]
rs9489464	0.83[AMR][1000 genomes]
rs9489468	0.83[AMR][1000 genomes]
rs9489472	0.83[AMR][1000 genomes]
rs9489480	0.83[AMR][1000 genomes]
rs9489481	0.83[AMR][1000 genomes]
rs9489484	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9489485	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9489488	0.85[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9489490	0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9489492	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9489495	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489496	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489501	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489505	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
3	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active 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	10 gene(s)	inside rSNPs	diseases
8	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
9	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
10	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
11	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
13	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
14	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	esv1801472	chr6:119010065-119019064	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv830788	chr6:119014021-119143652	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118990600-119025400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:118999600-119021600	Weak transcription	Thymus	Thymus
3	chr6:119001000-119026000	Weak transcription	NH-A	brain
4	chr6:119002200-119026600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:119004000-119026600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:119007400-119021400	Weak transcription	Dnd41	blood
7	chr6:119008400-119018600	Weak transcription	K562	blood
8	chr6:119008400-119022000	Weak transcription	GM12878-XiMat	blood
9	chr6:119010200-119019600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:119015200-119019000	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:119016000-119020000	Strong transcription	Primary B cells from cord blood	blood
12	chr6:119016000-119020400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
13	chr6:119016200-119020000	Strong transcription	Primary T cells from cord blood	blood
14	chr6:119016400-119022000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:119016600-119019000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr6:119016600-119021800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:119016600-119021800	Strong transcription	Fetal Thymus	thymus
18	chr6:119017000-119019000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr6:119017000-119019000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:119017200-119026400	Weak transcription	HMEC	breast
21	chr6:119017400-119018600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr6:119017400-119020200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:119017600-119018400	Strong transcription	Primary B cells from peripheral blood	blood
24	chr6:119017600-119019000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr6:119017600-119019200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr6:119017600-119019400	Enhancers	Psoas Muscle	Psoas
27	chr6:119017800-119026000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:119018000-119018400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:119018000-119018800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:119018000-119019600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr6:119018200-119019000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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