Variant report

Variant	rs12190817
Chromosome Location	chr6:33600864-33600865
allele	A/C
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33581288..33583329-chr6:33600315..33602072,2	K562	blood:
2	chr6:33594027..33596927-chr6:33599242..33602574,3	MCF-7	breast:
3	chr6:33587615..33592788-chr6:33598465..33603336,10	MCF-7	breast:
4	chr6:33557315..33558057-chr6:33600224..33600962,3	K562	blood:
5	chr6:33552057..33555351-chr6:33600748..33604007,3	MCF-7	breast:
6	chr6:33576269..33579262-chr6:33600060..33601906,2	MCF-7	breast:
7	chr6:33600220..33603162-chr6:33605195..33607351,4	MCF-7	breast:
8	chr6:33557311..33558097-chr6:33600135..33601024,5	MCF-7	breast:
9	chr6:33599796..33602757-chr6:33660954..33662454,2	MCF-7	breast:
10	chr6:33558226..33560678-chr6:33600632..33602616,2	K562	blood:
11	chr6:33559235..33561175-chr6:33600518..33603338,2	K562	blood:
12	chr6:33238461..33240272-chr6:33600741..33603344,2	MCF-7	breast:
13	chr6:33599307..33602028-chr6:33636164..33638489,2	MCF-7	breast:
14	chr6:33569313..33571736-chr6:33599981..33602556,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223501	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000096433	Chromatin interaction
ENSG00000197251	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12205634	0.86[AFR][1000 genomes]
rs3748079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62407633	0.86[AFR][1000 genomes]
rs62407648	0.86[AFR][1000 genomes]
rs72882008	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9461893	0.94[EUR][1000 genomes]
rs9469525	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9469527	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
2	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
3	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33596600-33601000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:33599600-33602800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:33599800-33601000	Enhancers	Pancreas	Pancrea
4	chr6:33600000-33601000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:33600000-33601000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr6:33600000-33601000	Enhancers	Thymus	Thymus
7	chr6:33600000-33601000	Enhancers	GM12878-XiMat	blood
8	chr6:33600000-33601200	Enhancers	Left Ventricle	heart
9	chr6:33600000-33601600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr6:33600200-33601000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:33600200-33601000	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:33600200-33601000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr6:33600200-33601000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:33600200-33601000	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr6:33600200-33601000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr6:33600200-33601000	Enhancers	NHLF	lung
17	chr6:33600200-33601200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:33600200-33601200	Enhancers	Fetal Lung	lung
19	chr6:33600200-33601400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:33600400-33601000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:33600400-33601000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr6:33600400-33601000	Enhancers	Psoas Muscle	Psoas
23	chr6:33600400-33601000	Enhancers	Right Atrium	heart
24	chr6:33600400-33601200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr6:33600400-33601200	Bivalent Enhancer	Placenta	Placenta
26	chr6:33600400-33601200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr6:33600400-33601200	Flanking Active TSS	Stomach Mucosa	stomach
28	chr6:33600400-33601200	Flanking Active TSS	HepG2	liver
29	chr6:33600400-33601400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr6:33600400-33601400	Flanking Active TSS	Hela-S3	cervix
31	chr6:33600400-33602400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr6:33600400-33602400	Flanking Active TSS	Dnd41	blood
33	chr6:33600600-33601000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:33600600-33601000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr6:33600600-33601000	Enhancers	Primary hematopoietic stem cells	blood
36	chr6:33600600-33601000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:33600600-33601000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:33600600-33601000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
39	chr6:33600600-33601000	Bivalent Enhancer	Fetal Thymus	thymus
40	chr6:33600600-33601000	Enhancers	Right Ventricle	heart
41	chr6:33600600-33601000	Active TSS	HSMM	muscle
42	chr6:33600600-33601200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr6:33600600-33601200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr6:33600600-33601200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr6:33600600-33601200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:33600600-33601200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:33600600-33601200	Enhancers	Primary B cells from cord blood	blood
48	chr6:33600600-33601200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr6:33600600-33601200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr6:33600600-33601200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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