Variant report

Variant	rs12649651
Chromosome Location	chr4:57078016-57078017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12501286	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12640682	1.00[EUR][1000 genomes]
rs12643906	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12645387	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12646746	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12648988	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12649000	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17086449	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2127194	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4865063	0.81[AMR][1000 genomes]
rs57569247	1.00[EUR][1000 genomes]
rs73158789	0.81[AMR][1000 genomes];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	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:28 , 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	chr4:57074600-57081200	Weak transcription	HepG2	liver
5	chr4:57076000-57078200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:57076000-57078400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:57076000-57078600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:57076200-57078200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:57076600-57078800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr4:57077200-57078400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:57077200-57078400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:57077200-57078600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:57077400-57078200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:57077400-57078200	ZNF genes & repeats	Liver	Liver
15	chr4:57077400-57078200	ZNF genes & repeats	Fetal Brain Female	brain
16	chr4:57077400-57078200	ZNF genes & repeats	Fetal Intestine Large	intestine
17	chr4:57077400-57078200	ZNF genes & repeats	Fetal Stomach	stomach
18	chr4:57077400-57078400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:57077400-57078400	ZNF genes & repeats	Brain Germinal Matrix	brain
20	chr4:57077400-57078600	ZNF genes & repeats	Fetal Intestine Small	intestine
21	chr4:57077400-57078800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr4:57077400-57079000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:57077600-57078400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr4:57077800-57078200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:57078000-57078600	Strong transcription	Primary hematopoietic stem cells	blood
26	chr4:57078000-57082000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:57078000-57082000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:57078000-57082000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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