Variant report

Variant	rs56039557
Chromosome Location	chr7:112725633-112725634
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112723161..112726364-chr7:112726656..112729737,3	K562	blood:
2	chr7:112725230..112728019-chr7:112757874..112760567,2	K562	blood:

Variant related genes	Relation type
ENSG00000164604	Chromatin interaction
ENSG00000214194	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10241110	0.87[AMR][1000 genomes]
rs7778565	0.81[AMR][1000 genomes]
rs7786391	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3355135	chr7:112616979-113134651	Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv435847	chr7:112618576-113134022	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3430638	chr7:112620663-113134403	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3442221	chr7:112620665-113134971	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv993501	chr7:112625029-113125338	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1022066	chr7:112630168-113122748	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv539090	chr7:112630168-113122748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv889057	chr7:112652854-112734225	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	nsv889058	chr7:112652854-112737222	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112721200-112727800	Active TSS	Brain Anterior Caudate	brain
2	chr7:112721200-112728000	Active TSS	Brain Angular Gyrus	brain
3	chr7:112722400-112727800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:112723400-112725800	Weak transcription	Pancreas	Pancrea
5	chr7:112723800-112725800	Weak transcription	Right Ventricle	heart
6	chr7:112724200-112725800	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:112724200-112726200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:112724400-112727800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr7:112724600-112726000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:112724600-112727800	Active TSS	Brain Cingulate Gyrus	brain
11	chr7:112724600-112728000	Active TSS	Fetal Brain Male	brain
12	chr7:112724800-112725800	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr7:112724800-112727800	Active TSS	Fetal Brain Female	brain
14	chr7:112725200-112726000	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr7:112725400-112725800	Enhancers	Stomach Mucosa	stomach
16	chr7:112725400-112726000	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr7:112725400-112727200	Active TSS	Osteobl	bone
18	chr7:112725400-112727800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:112725400-112727800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:112725600-112725800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:112725600-112725800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:112725600-112725800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
23	chr7:112725600-112725800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:112725600-112725800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:112725600-112725800	Enhancers	Duodenum Mucosa	Duodenum
26	chr7:112725600-112725800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr7:112725600-112725800	Active TSS	HMEC	breast
28	chr7:112725600-112725800	Active TSS	HSMM	muscle
29	chr7:112725600-112725800	Enhancers	NHEK	skin
30	chr7:112725600-112726000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr7:112725600-112726000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:112725600-112726000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr7:112725600-112726000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:112725600-112726000	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr7:112725600-112726000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:112725600-112726000	Active TSS	Stomach Smooth Muscle	stomach
37	chr7:112725600-112726000	Active TSS	NHDF-Ad	bronchial
38	chr7:112725600-112726000	Flanking Active TSS	NHLF	lung
39	chr7:112725600-112726200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr7:112725600-112726400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr7:112725600-112726400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr7:112725600-112726400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:112725600-112726400	Flanking Active TSS	Fetal Stomach	stomach
44	chr7:112725600-112726400	Flanking Active TSS	K562	blood
45	chr7:112725600-112726400	Flanking Active TSS	NH-A	brain
46	chr7:112725600-112726800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:112725600-112727000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:112725600-112727000	Active TSS	Colon Smooth Muscle	Colon
49	chr7:112725600-112727600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
50	chr7:112725600-112727600	Active TSS	Placenta	Placenta

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