Variant report

Variant	rs45564039
Chromosome Location	chr6:114178920-114178921
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	chr6:113962572..113972353-chr6:114176344..114182135,15	MCF-7	breast:
2	chr6:113951154..113956306-chr6:114178159..114180970,5	MCF-7	breast:
3	chr17:59488001..59490048-chr6:114178247..114180860,2	MCF-7	breast:
4	chr6:114143592..114145943-chr6:114178562..114180507,2	MCF-7	breast:
5	chr6:113951972..113954125-chr6:114177118..114180293,3	MCF-7	breast:
6	chr6:114178671..114180639-chr6:114284210..114286994,2	MCF-7	breast:
7	chr6:114178559..114181468-chr6:114186800..114188591,2	K562	blood:
8	chr6:114178176..114180807-chr6:114192347..114194542,2	MCF-7	breast:
9	chr6:113753712..113755714-chr6:114178275..114180113,2	MCF-7	breast:
10	chr6:113970166..113973032-chr6:114177740..114182018,4	MCF-7	breast:
11	chr6:113443465..113445124-chr6:114178799..114180664,2	MCF-7	breast:
12	chr20:53463274..53464883-chr6:114178881..114181471,2	MCF-7	breast:
13	chr17:63555316..63557458-chr6:114177797..114179587,2	MCF-7	breast:
14	chr6:114177680..114181410-chr6:114290377..114292499,3	MCF-7	breast:
15	chr6:113109659..113111203-chr6:114178875..114181811,2	MCF-7	breast:
16	chr6:113732055..113735601-chr6:114178607..114183451,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168646	Chromatin interaction
ENSG00000228624	Chromatin interaction
ENSG00000232316	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000196591	Chromatin interaction
ENSG00000230943	Chromatin interaction
ENSG00000227502	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10085305	1.00[AMR][1000 genomes]
rs3862823	1.00[AMR][1000 genomes]
rs45618440	1.00[AMR][1000 genomes]
rs58004831	1.00[AMR][1000 genomes]
rs59623484	1.00[AMR][1000 genomes]
rs6931913	1.00[AMR][1000 genomes]
rs73545787	1.00[AMR][1000 genomes]
rs73545797	1.00[AMR][1000 genomes]
rs7744200	1.00[AMR][1000 genomes]
rs7760127	1.00[AMR][1000 genomes]
rs7760474	1.00[AMR][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	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv3444623	chr6:114177809-114182607	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	n/a
5	nsv482098	chr6:114178527-114184652	Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114175400-114180400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:114175400-114182200	Active TSS	A549	lung
3	chr6:114175600-114179000	Active TSS	Fetal Brain Female	brain
4	chr6:114175600-114181400	Active TSS	NHLF	lung
5	chr6:114175600-114181800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr6:114175600-114181800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:114175600-114181800	Active TSS	Fetal Lung	lung
8	chr6:114175600-114181800	Active TSS	NHDF-Ad	bronchial
9	chr6:114175600-114182000	Active TSS	Brain Anterior Caudate	brain
10	chr6:114175600-114182000	Active TSS	Brain Hippocampus Middle	brain
11	chr6:114175600-114182200	Active TSS	Brain Substantia Nigra	brain
12	chr6:114175600-114183000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr6:114175600-114183600	Active TSS	Right Atrium	heart
14	chr6:114175600-114184000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr6:114175800-114179600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:114175800-114180400	Active TSS	Colonic Mucosa	Colon
17	chr6:114175800-114180400	Active TSS	Right Ventricle	heart
18	chr6:114175800-114180400	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr6:114175800-114180600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:114175800-114180800	Active TSS	Fetal Kidney	kidney
21	chr6:114175800-114181800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:114175800-114181800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:114175800-114181800	Active TSS	Brain Angular Gyrus	brain
24	chr6:114175800-114181800	Active TSS	Esophagus	oesophagus
25	chr6:114175800-114181800	Active TSS	Gastric	stomach
26	chr6:114175800-114181800	Active TSS	Pancreas	Pancrea
27	chr6:114175800-114181800	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr6:114175800-114182000	Active TSS	Aorta	Aorta
29	chr6:114175800-114182000	Active TSS	Fetal Intestine Small	intestine
30	chr6:114175800-114182200	Active TSS	Brain Cingulate Gyrus	brain
31	chr6:114175800-114182200	Active TSS	Ovary	ovary
32	chr6:114175800-114182600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:114175800-114182800	Active TSS	Psoas Muscle	Psoas
34	chr6:114176000-114179000	Active TSS	Rectal Smooth Muscle	rectum
35	chr6:114176000-114180400	Active TSS	Left Ventricle	heart
36	chr6:114176000-114181000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:114176000-114182400	Active TSS	Fetal Intestine Large	intestine
38	chr6:114176000-114183200	Active TSS	Colon Smooth Muscle	Colon
39	chr6:114176200-114179800	Active TSS	Stomach Smooth Muscle	stomach
40	chr6:114176200-114180600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:114176200-114181800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:114176200-114182200	Active TSS	Fetal Muscle Trunk	muscle
43	chr6:114176400-114180000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr6:114176400-114180200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:114177000-114182200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:114177200-114179600	Bivalent/Poised TSS	Thymus	Thymus
47	chr6:114177200-114180400	Active TSS	Placenta	Placenta
48	chr6:114177200-114180400	Active TSS	Fetal Stomach	stomach
49	chr6:114177200-114180600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
50	chr6:114177200-114180800	ZNF genes & repeats	Fetal Brain Male	brain

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