Variant report

Variant	rs2005700
Chromosome Location	chr4:110997859-110997860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11942299	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17041343	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55652907	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55837341	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55949732	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv437412	chr4:110995217-111006785	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
3	nsv437414	chr4:110995217-111006785	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110964600-111004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:110973000-111009200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:110980200-111004000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:110981000-111004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:110981400-111006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:110981400-111009200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:110982000-111003800	Weak transcription	NHEK	skin
8	chr4:110984000-110998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:110984000-111006200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:110985600-111006000	Weak transcription	Fetal Intestine Small	intestine
11	chr4:110986200-111009400	Weak transcription	NHLF	lung
12	chr4:110986800-111006000	Weak transcription	HepG2	liver
13	chr4:110990400-111006400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:110991800-111008400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:110992400-111010000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:110993000-110998400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:110993000-111004000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
19	chr4:110994000-111004000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:110994800-111006000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:110995000-110999400	Weak transcription	Ovary	ovary
22	chr4:110995000-111018600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:110995200-111008600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr4:110996400-110999000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:110996400-111004000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:110996400-111006200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:110997200-111004000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:110997400-111004200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:110997600-110998000	Enhancers	K562	blood

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