Variant report

Variant	rs28593745
Chromosome Location	chr7:18395677-18395678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:18395478..18396447-chr7:18705774..18706398,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10216127	1.00[EUR][1000 genomes]
rs10225505	1.00[EUR][1000 genomes]
rs10227283	1.00[EUR][1000 genomes]
rs10229621	1.00[EUR][1000 genomes]
rs10232459	1.00[EUR][1000 genomes]
rs73309546	1.00[EUR][1000 genomes]
rs73309559	1.00[EUR][1000 genomes]
rs73309576	1.00[EUR][1000 genomes]
rs73309579	1.00[EUR][1000 genomes]
rs7791635	1.00[EUR][1000 genomes]
rs9655154	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv830916	chr7:18254299-18433349	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18385600-18401600	Weak transcription	Aorta	Aorta
2	chr7:18387400-18409800	Weak transcription	Primary B cells from cord blood	blood
3	chr7:18390600-18395800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:18392200-18396400	Enhancers	Fetal Heart	heart
5	chr7:18392600-18396000	Weak transcription	NH-A	brain
6	chr7:18392800-18395800	Weak transcription	NHDF-Ad	bronchial
7	chr7:18392800-18401200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:18393800-18396000	Weak transcription	Fetal Kidney	kidney
9	chr7:18393800-18396000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:18394000-18396400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:18394200-18396400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:18394400-18395800	Enhancers	Brain Anterior Caudate	brain
13	chr7:18394400-18402800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:18394800-18396000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:18394800-18396200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:18395200-18396200	Active TSS	GM12878-XiMat	blood
17	chr7:18395200-18396400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:18395200-18396400	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:18395200-18396400	Enhancers	Brain Hippocampus Middle	brain
20	chr7:18395200-18396400	Enhancers	HUVEC	blood vessel
21	chr7:18395400-18395800	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:18395400-18395800	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:18395400-18395800	Enhancers	Brain Substantia Nigra	brain
24	chr7:18395400-18396000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr7:18395400-18396000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:18395400-18396000	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr7:18395400-18396000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:18395400-18396200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:18395400-18396200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:18395400-18396200	Enhancers	Adipose Nuclei	Adipose
31	chr7:18395400-18396200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr7:18395400-18396400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:18395400-18396400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr7:18395400-18396400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr7:18395600-18396000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:18395600-18396000	Active TSS	Duodenum Mucosa	Duodenum
37	chr7:18395600-18396000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr7:18395600-18396200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:18395600-18396200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr7:18395600-18396200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr7:18395600-18396200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr7:18395600-18396400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:18395600-18396400	Enhancers	Brain Angular Gyrus	brain

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