Variant report

Variant	rs4653501
Chromosome Location	chr1:223892202-223892203
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223891679..223894044-chr1:223943117..223944759,2	MCF-7	breast:
2	chr1:223890524..223893483-chr1:223939382..223941203,2	MCF-7	breast:
3	chr1:223889991..223892521-chr1:223908997..223911064,2	K562	blood:
4	chr1:223891443..223896975-chr1:223925207..223929791,6	MCF-7	breast:
5	chr1:223891592..223893967-chr1:223903233..223904840,2	K562	blood:
6	chr1:223891793..223894789-chr1:224032613..224034264,2	K562	blood:
7	chr1:223891739..223894033-chr1:224033378..224035104,2	K562	blood:
8	chr1:223885961..223896993-chr1:223898177..223910405,32	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction
ENSG00000162909	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1539706	0.89[AFR][1000 genomes]
rs2404355	1.00[AFR][1000 genomes]
rs4653829	0.89[AFR][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	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
4	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS 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	33 gene(s)	inside rSNPs	diseases
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223886400-223892400	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:223886400-223892400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:223886400-223892400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:223886400-223894200	Weak transcription	Brain Angular Gyrus	brain
5	chr1:223888200-223892800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:223889000-223894000	Weak transcription	Pancreas	Pancrea
7	chr1:223889000-223895000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:223889000-223895400	Enhancers	NHLF	lung
9	chr1:223889000-223900000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:223889200-223892400	Weak transcription	Fetal Kidney	kidney
11	chr1:223889200-223892600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:223889200-223892800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:223889200-223893200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:223889400-223892400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:223889400-223892400	Weak transcription	Adipose Nuclei	Adipose
16	chr1:223889400-223892600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:223889400-223892600	Weak transcription	Fetal Stomach	stomach
18	chr1:223889400-223892600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr1:223889400-223892600	Weak transcription	Stomach Mucosa	stomach
20	chr1:223889400-223892800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:223889400-223892800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:223889400-223893200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:223889400-223893600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:223889400-223894000	Weak transcription	Fetal Intestine Small	intestine
25	chr1:223890800-223892600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:223890800-223892600	Weak transcription	Aorta	Aorta
27	chr1:223891000-223892600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:223891000-223892600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:223891000-223895200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:223891000-223895400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:223891200-223892400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:223891200-223892400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:223891200-223892400	Weak transcription	HUVEC	blood vessel
34	chr1:223891200-223892600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:223891200-223892600	Weak transcription	NHEK	skin
36	chr1:223891200-223898600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:223891400-223892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:223891400-223892400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:223891400-223892400	Weak transcription	Lung	lung
40	chr1:223891400-223892400	Weak transcription	HMEC	breast
41	chr1:223891400-223892600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:223891400-223892600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:223891400-223892800	Enhancers	A549	lung
44	chr1:223891600-223892600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:223891600-223893400	Weak transcription	Hela-S3	cervix
46	chr1:223891800-223892800	Enhancers	Fetal Heart	heart
47	chr1:223892000-223892600	Enhancers	HSMM	muscle
48	chr1:223892000-223892600	Enhancers	Osteobl	bone
49	chr1:223892000-223892800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:223892000-223894000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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