Variant report

Variant	rs7253479
Chromosome Location	chr19:18168875-18168876
allele	A/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18108637..18109581-chr19:18168824..18169425,2	K562	blood:
2	chr19:18110512..18113596-chr19:18166649..18169173,4	MCF-7	breast:
3	chr19:18112125..18114440-chr19:18166210..18169011,2	K562	blood:
4	chr19:18123288..18126278-chr19:18168683..18170920,3	K562	blood:
5	chr1:46152203..46153086-chr19:18168643..18169301,2	HCT-116	colon:
6	chr19:18129262..18132278-chr19:18167782..18169896,3	K562	blood:
7	chr19:18168352..18169931-chr19:18171627..18174496,2	K562	blood:
8	chr19:18117457..18120181-chr19:18166897..18171800,6	K562	blood:
9	chr19:18116206..18122665-chr19:18167802..18171424,9	MCF-7	breast:
10	chr19:18117507..18118415-chr19:18168554..18169803,7	MCF-7	breast:
11	chr19:18164213..18165777-chr19:18168109..18169737,2	K562	blood:
12	chr19:18162504..18164365-chr19:18167164..18169094,2	MCF-7	breast:
13	chr19:18168077..18170768-chr19:18203861..18205779,2	K562	blood:
14	chr19:18116444..18119992-chr19:18166897..18169714,4	K562	blood:
15	chr19:18048789..18049868-chr19:18168630..18169412,4	K562	blood:
16	chr19:18167851..18170563-chr19:18548504..18551321,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105643	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000159596	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10451485	1.00[EUR][1000 genomes]
rs11555958	1.00[EUR][1000 genomes]
rs11881620	1.00[EUR][1000 genomes]
rs17882031	1.00[EUR][1000 genomes]
rs431777	1.00[EUR][1000 genomes]
rs437698	1.00[EUR][1000 genomes]
rs57757608	1.00[EUR][1000 genomes]
rs58749284	1.00[EUR][1000 genomes]
rs6512246	1.00[EUR][1000 genomes]
rs7255121	1.00[EUR][1000 genomes]
rs7256004	1.00[EUR][1000 genomes]
rs8102661	1.00[EUR][1000 genomes]
rs8103555	1.00[EUR][1000 genomes]
rs8111135	1.00[EUR][1000 genomes]
rs845379	1.00[EUR][1000 genomes]
rs9749302	1.00[EUR][1000 genomes]
rs9989677	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers 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	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv1836842	chr19:18085428-18173603	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
7	nsv911235	chr19:18143862-18175853	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
9	nsv578742	chr19:18168674-18181779	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18156200-18169000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:18162000-18169000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:18162200-18169000	Weak transcription	Primary T cells from cord blood	blood
4	chr19:18163000-18169000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr19:18163000-18169000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:18163000-18169000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:18163000-18169000	Weak transcription	Osteobl	bone
8	chr19:18163000-18169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:18164600-18169000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:18167000-18169000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:18168200-18169000	Weak transcription	Right Atrium	heart
12	chr19:18168400-18169000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr19:18168400-18169000	Enhancers	Primary B cells from peripheral blood	blood
14	chr19:18168400-18169000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr19:18168400-18169000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:18168400-18169000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr19:18168400-18169000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:18168400-18169000	Enhancers	Brain Anterior Caudate	brain
19	chr19:18168400-18169000	Enhancers	Brain Cingulate Gyrus	brain
20	chr19:18168400-18169000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr19:18168400-18169000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:18168400-18169000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr19:18168400-18169000	Enhancers	Fetal Thymus	thymus
24	chr19:18168400-18169000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr19:18168400-18169000	Enhancers	Right Ventricle	heart
26	chr19:18168400-18169000	Enhancers	Dnd41	blood
27	chr19:18168400-18169200	Flanking Active TSS	Brain Substantia Nigra	brain
28	chr19:18168400-18169200	Enhancers	Stomach Smooth Muscle	stomach
29	chr19:18168400-18169600	Enhancers	Esophagus	oesophagus
30	chr19:18168400-18169600	Enhancers	Gastric	stomach
31	chr19:18168400-18169600	Enhancers	Spleen	Spleen
32	chr19:18168400-18169800	Enhancers	Liver	Liver
33	chr19:18168400-18169800	Enhancers	Placenta	Placenta
34	chr19:18168400-18169800	Enhancers	GM12878-XiMat	blood
35	chr19:18168600-18169000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr19:18168600-18169000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:18168600-18169000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr19:18168600-18169000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:18168600-18169000	Enhancers	Fetal Muscle Leg	muscle
40	chr19:18168600-18169000	Enhancers	A549	lung
41	chr19:18168600-18169200	Enhancers	Colonic Mucosa	Colon
42	chr19:18168600-18169400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:18168600-18169400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:18168600-18169400	Enhancers	Brain Angular Gyrus	brain
45	chr19:18168600-18169600	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr19:18168600-18169600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr19:18168600-18169600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr19:18168600-18169800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr19:18168600-18169800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr19:18168600-18169800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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