Variant report

Variant	rs28445941
Chromosome Location	chr1:223247861-223247862
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1624408	1.00[EUR][1000 genomes]
rs1640869	1.00[EUR][1000 genomes]
rs28373518	1.00[EUR][1000 genomes]
rs28481968	0.88[AFR][1000 genomes]
rs28488039	1.00[EUR][1000 genomes]
rs28782805	1.00[EUR][1000 genomes]
rs35801972	1.00[EUR][1000 genomes]
rs5744110	1.00[EUR][1000 genomes]
rs6658085	1.00[EUR][1000 genomes]
rs6693240	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs725972	1.00[EUR][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	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:223225800-223248000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:223225800-223248400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:223226200-223248200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:223240000-223248200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:223243400-223249800	Weak transcription	Right Ventricle	heart
6	chr1:223246800-223253400	Enhancers	Fetal Muscle Leg	muscle
7	chr1:223247200-223249000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:223247200-223250000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:223247200-223250800	Enhancers	Fetal Heart	heart
10	chr1:223247200-223251400	Enhancers	Colon Smooth Muscle	Colon
11	chr1:223247200-223252800	Enhancers	Lung	lung
12	chr1:223247200-223253000	Enhancers	Fetal Lung	lung
13	chr1:223247400-223248200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:223247600-223248000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:223247600-223248400	Active TSS	Brain Anterior Caudate	brain
16	chr1:223247600-223248600	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:223247600-223248800	Enhancers	Left Ventricle	heart
18	chr1:223247600-223248800	Enhancers	HSMMtube	muscle
19	chr1:223247600-223249200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:223247800-223248000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:223247800-223248000	Bivalent Enhancer	Fetal Stomach	stomach
22	chr1:223247800-223248000	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr1:223247800-223248200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:223247800-223248200	Enhancers	Right Atrium	heart
25	chr1:223247800-223248200	Bivalent Enhancer	Osteobl	bone
26	chr1:223247800-223248400	Active TSS	Aorta	Aorta
27	chr1:223247800-223248400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr1:223247800-223248600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:223247800-223248600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:223247800-223248600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:223247800-223248600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr1:223247800-223248600	Enhancers	Gastric	stomach
33	chr1:223247800-223248600	Enhancers	Ovary	ovary
34	chr1:223247800-223248600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:223247800-223248800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:223247800-223249000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:223247800-223249200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:223247800-223249200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:223247800-223249200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr1:223247800-223249400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:223247800-223250600	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr1:223247800-223250600	Enhancers	Rectal Smooth Muscle	rectum
43	chr1:223247800-223251400	Enhancers	Fetal Brain Male	brain

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