Variant report

Variant	rs57569247
Chromosome Location	chr4:57138869-57138870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12501286	1.00[EUR][1000 genomes]
rs12640682	1.00[EUR][1000 genomes]
rs12643906	1.00[EUR][1000 genomes]
rs12645387	1.00[EUR][1000 genomes]
rs12646746	1.00[EUR][1000 genomes]
rs12648988	1.00[EUR][1000 genomes]
rs12649000	1.00[EUR][1000 genomes]
rs12649651	1.00[EUR][1000 genomes]
rs17086449	1.00[EUR][1000 genomes]
rs2127194	1.00[EUR][1000 genomes]
rs56842110	1.00[AFR][1000 genomes]
rs73158789	1.00[EUR][1000 genomes]
rs73817459	1.00[AFR][1000 genomes]
rs73817461	1.00[AFR][1000 genomes]
rs73817464	1.00[AFR][1000 genomes]
rs73817476	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv518368	chr4:57132047-57140241	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57098800-57158400	Weak transcription	Fetal Brain Female	brain
2	chr4:57107400-57148400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:57124800-57149200	Weak transcription	Fetal Brain Male	brain
4	chr4:57133800-57162800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:57134000-57140000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:57134200-57140200	Weak transcription	Brain Germinal Matrix	brain
7	chr4:57135400-57139800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:57136400-57145200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:57136400-57148400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:57137400-57142000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:57137400-57142800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:57137600-57148400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:57137800-57142800	Weak transcription	Fetal Kidney	kidney
14	chr4:57138000-57139800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr4:57138000-57140200	Active TSS	Colonic Mucosa	Colon
16	chr4:57138200-57139000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:57138200-57139000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr4:57138200-57140000	Enhancers	Stomach Mucosa	stomach
19	chr4:57138200-57140400	Active TSS	Duodenum Mucosa	Duodenum
20	chr4:57138200-57141200	Active TSS	Fetal Intestine Small	intestine
21	chr4:57138200-57142200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:57138400-57140200	Active TSS	Rectal Smooth Muscle	rectum
23	chr4:57138400-57141400	Active TSS	Fetal Intestine Large	intestine
24	chr4:57138600-57146600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:57138800-57139800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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