Variant report

Variant	rs2040709
Chromosome Location	chr4:110994878-110994879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110989188..110991763-chr4:110992252..110995020,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10033691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708426	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72676992	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72677000	0.94[EUR][1000 genomes];0.90[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	esv1798003	chr4:110981611-110996948	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv966478	chr4:110985403-110995212	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 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	chr4:110970800-110995800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:110973000-111009200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr4:110980200-111004000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:110981000-110997000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:110981000-111004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:110981400-111006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:110981400-111009200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:110982000-110995000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:110982000-110995800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr4:110982000-111003800	Weak transcription	NHEK	skin
12	chr4:110982600-110996200	Weak transcription	Dnd41	blood
13	chr4:110984000-110998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:110984000-111006200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:110985600-111006000	Weak transcription	Fetal Intestine Small	intestine
16	chr4:110986200-111009400	Weak transcription	NHLF	lung
17	chr4:110986800-111006000	Weak transcription	HepG2	liver
18	chr4:110989800-110996000	Weak transcription	HSMM	muscle
19	chr4:110990400-111006400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:110990600-110996400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:110991000-110995000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:110991800-111008400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:110992000-110995400	Enhancers	Fetal Heart	heart
24	chr4:110992400-111010000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:110992600-110995200	Enhancers	Adipose Nuclei	Adipose
26	chr4:110993000-110997400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:110993000-110998400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:110993000-111004000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:110993200-110995000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
31	chr4:110993800-110995000	Strong transcription	K562	blood
32	chr4:110994000-110995200	Enhancers	Liver	Liver
33	chr4:110994000-110997200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:110994000-111004000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:110994200-110995000	Enhancers	Ovary	ovary
36	chr4:110994200-110995200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr4:110994400-110995000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:110994400-110995000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:110994400-110995000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:110994400-110995000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr4:110994400-110995000	Enhancers	HUVEC	blood vessel
42	chr4:110994600-110995000	Enhancers	Fetal Lung	lung
43	chr4:110994600-110995200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:110994600-110996200	Weak transcription	GM12878-XiMat	blood
45	chr4:110994800-110995000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:110994800-110995000	Enhancers	Brain Germinal Matrix	brain
47	chr4:110994800-110995000	Enhancers	Left Ventricle	heart
48	chr4:110994800-111006000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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