Variant report

Variant	rs7552354
Chromosome Location	chr1:57889444-57889445
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11207031	1.00[JPT][hapmap]
rs12116685	1.00[JPT][hapmap]
rs12132290	1.00[JPT][hapmap]
rs12401342	1.00[CHB][hapmap]
rs12734724	1.00[CHB][hapmap]
rs12739184	1.00[ASN][1000 genomes]
rs12742237	1.00[JPT][hapmap]
rs12758741	1.00[JPT][hapmap]
rs1341315	1.00[JPT][hapmap]
rs1557223	1.00[CHB][hapmap]
rs17457585	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs34492687	1.00[ASN][1000 genomes]
rs35404211	1.00[CHB][hapmap]
rs71511461	1.00[ASN][1000 genomes]
rs7519071	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	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv19188	chr1:57887539-57890289	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	esv3379485	chr1:57888389-57891237	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
6	nsv546306	chr1:57888427-57889667	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57885800-57890800	Active TSS	Fetal Brain Female	brain
2	chr1:57886800-57890800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:57887000-57890400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:57887200-57890200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr1:57887200-57890600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:57887200-57890600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:57887200-57890600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:57887200-57890800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:57887400-57890200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:57887400-57890200	Bivalent/Poised TSS	HSMM	muscle
11	chr1:57887400-57890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:57887400-57890600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:57887400-57890600	Active TSS	Right Atrium	heart
14	chr1:57887400-57890800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:57887600-57889600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
16	chr1:57887600-57890200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:57887600-57890600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:57887600-57890600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:57887600-57890800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:57887600-57890800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:57887600-57891600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:57887800-57889800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:57887800-57889800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:57887800-57890000	Bivalent Enhancer	Liver	Liver
25	chr1:57887800-57890000	Bivalent Enhancer	Placenta	Placenta
26	chr1:57887800-57890200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:57887800-57890200	Bivalent/Poised TSS	Psoas Muscle	Psoas
28	chr1:57887800-57890400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr1:57887800-57890600	Bivalent/Poised TSS	NH-A	brain
30	chr1:57887800-57890800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:57887800-57890800	Bivalent/Poised TSS	NHLF	lung
32	chr1:57888000-57889600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:57888000-57889600	Bivalent Enhancer	Spleen	Spleen
34	chr1:57888000-57890200	Bivalent/Poised TSS	Ovary	ovary
35	chr1:57888000-57890600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:57888000-57890600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:57888000-57890600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
38	chr1:57888200-57890000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
39	chr1:57888200-57890000	Bivalent Enhancer	Lung	lung
40	chr1:57888200-57890600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
41	chr1:57888400-57889600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
42	chr1:57888400-57890200	Active TSS	Fetal Brain Male	brain
43	chr1:57888400-57890600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:57888400-57890600	Active TSS	Fetal Heart	heart
45	chr1:57888400-57891000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr1:57888600-57890800	Active TSS	Brain Angular Gyrus	brain
47	chr1:57888600-57890800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
48	chr1:57888800-57889600	Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr1:57888800-57890000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:57888800-57890200	Active TSS	HUES48 Cell Line	embryonic stem cell

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