Variant report

Variant	rs28658475
Chromosome Location	chr4:57081835-57081836
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17745470	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59885332	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240524	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73240525	1.00[ASN][1000 genomes]
rs73240527	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240535	1.00[ASN][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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1012036	chr4:56963544-57106642	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3415289	chr4:57063312-57236755	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 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	chr4:57050000-57084600	Weak transcription	Fetal Brain Male	brain
2	chr4:57063000-57107800	Weak transcription	Fetal Kidney	kidney
3	chr4:57070400-57089000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:57078000-57082000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:57078000-57082000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:57078000-57082000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:57078200-57093200	Weak transcription	Fetal Stomach	stomach
8	chr4:57078200-57098200	Weak transcription	Fetal Brain Female	brain
9	chr4:57078400-57082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:57078400-57086400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:57078400-57095200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:57078600-57092000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:57079000-57094000	Weak transcription	Small Intestine	intestine
14	chr4:57080600-57086600	Enhancers	Fetal Intestine Large	intestine
15	chr4:57080800-57086600	Enhancers	Fetal Intestine Small	intestine
16	chr4:57081000-57083400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:57081200-57082200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:57081200-57084400	Enhancers	HepG2	liver
19	chr4:57081400-57082200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr4:57081400-57084400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:57081400-57084400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:57081600-57082000	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr4:57081600-57082200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:57081600-57082200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:57081600-57082200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:57081600-57082200	Flanking Active TSS	Stomach Mucosa	stomach
27	chr4:57081600-57082200	Enhancers	Hela-S3	cervix
28	chr4:57081600-57082400	Enhancers	H9 Cell Line	embryonic stem cell
29	chr4:57081600-57082400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr4:57081600-57082400	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr4:57081600-57082600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr4:57081600-57082600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:57081600-57082800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:57081600-57082800	Enhancers	Primary hematopoietic stem cells	blood
35	chr4:57081600-57082800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr4:57081800-57082000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr4:57081800-57082000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr4:57081800-57082200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr4:57081800-57082400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:57081800-57082600	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:57081800-57082600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:57081800-57082600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:57081800-57082600	Enhancers	HSMM	muscle

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