Variant report

Variant	rs12189671
Chromosome Location	chr6:119026124-119026125
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119026038..119027684-chr6:119041311..119043750,2	K562	blood:
2	chr6:119021557..119024655-chr6:119025139..119027449,3	K562	blood:
3	chr6:119014557..119016920-chr6:119023661..119027711,4	K562	blood:
4	chr6:119025081..119026772-chr6:119027476..119030330,2	MCF-7	breast:
5	chr6:118640782..118642845-chr6:119024571..119027224,2	K562	blood:
6	chr6:119025003..119027985-chr6:119208715..119210958,2	K562	blood:
7	chr6:119004382..119006834-chr6:119024515..119026911,2	K562	blood:
8	chr6:119019680..119022002-chr6:119024066..119026912,2	K562	blood:
9	chr6:119026092..119028989-chr6:119074948..119078427,3	K562	blood:

No data

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10457346	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12191005	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12192532	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12200660	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12202466	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12204374	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12205793	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12209566	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7770667	1.00[CEU][hapmap]
rs9489495	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9489496	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9489501	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9489505	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119002200-119026600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:119004000-119026600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:119017200-119026400	Weak transcription	HMEC	breast
4	chr6:119019400-119026800	Weak transcription	Psoas Muscle	Psoas
5	chr6:119021200-119026400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:119024200-119029800	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:119024400-119026400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr6:119024400-119026800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:119024400-119027000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr6:119024600-119027000	Enhancers	Primary B cells from cord blood	blood
11	chr6:119024600-119027000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:119024800-119026200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:119024800-119026600	Enhancers	Primary T cells from cord blood	blood
14	chr6:119024800-119026800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:119024800-119027000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr6:119025200-119026600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:119025200-119027000	Enhancers	Thymus	Thymus
18	chr6:119025400-119026600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:119025400-119026800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:119025400-119026800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr6:119025400-119026800	Enhancers	Dnd41	blood
22	chr6:119025400-119027000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:119025400-119027000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr6:119025400-119027000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr6:119025400-119027800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:119025400-119028000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:119025400-119028200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:119025400-119028400	Genic enhancers	Fetal Thymus	thymus
29	chr6:119025400-119029400	Enhancers	Fetal Muscle Leg	muscle
30	chr6:119025400-119029800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:119025600-119026600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:119025600-119026800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr6:119025600-119027200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:119025800-119026200	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr6:119025800-119026400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:119025800-119026600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:119025800-119027000	Enhancers	Primary hematopoietic stem cells	blood
38	chr6:119025800-119027000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr6:119025800-119028000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr6:119026000-119026400	Enhancers	Muscle Satellite Cultured Cells	--
41	chr6:119026000-119026400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:119026000-119026400	Enhancers	Osteobl	bone
43	chr6:119026000-119026800	Enhancers	Brain Germinal Matrix	brain
44	chr6:119026000-119026800	Enhancers	NH-A	brain
45	chr6:119026000-119027000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:119026000-119027000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:119026000-119027000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:119026000-119027000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:119026000-119027000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr6:119026000-119027000	Genic enhancers	K562	blood

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