Variant report

Variant	rs17041343
Chromosome Location	chr4:110994069-110994070
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: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11942299	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12498468	0.87[CEU][hapmap]
rs12505992	0.87[CEU][hapmap]
rs17041315	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs17041324	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs2005700	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55652907	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55837341	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55949732	0.84[EUR][1000 genomes];0.85[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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110964600-111004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:110965400-110994200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:110970800-110995800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:110973000-111009200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:110980200-111004000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:110981000-110997000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:110981000-111004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:110981400-111006200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:110981400-111009200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:110982000-110994400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:110982000-110994400	Weak transcription	Osteobl	bone
12	chr4:110982000-110995000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:110982000-110995800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:110982000-111003800	Weak transcription	NHEK	skin
15	chr4:110982200-110994600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:110982600-110996200	Weak transcription	Dnd41	blood
17	chr4:110984000-110998000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:110984000-111006200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:110985600-111006000	Weak transcription	Fetal Intestine Small	intestine
20	chr4:110986200-111009400	Weak transcription	NHLF	lung
21	chr4:110986800-111006000	Weak transcription	HepG2	liver
22	chr4:110989800-110996000	Weak transcription	HSMM	muscle
23	chr4:110990400-110994800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr4:110990400-111006400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:110990600-110996400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:110990800-110994800	Weak transcription	Left Ventricle	heart
27	chr4:110991000-110994200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:110991000-110995000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:110991800-110994400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:110991800-111008400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:110992000-110995400	Enhancers	Fetal Heart	heart
32	chr4:110992400-110994200	Enhancers	Brain Germinal Matrix	brain
33	chr4:110992400-110994400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr4:110992400-111010000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:110992600-110994800	Enhancers	Brain Substantia Nigra	brain
36	chr4:110992600-110995200	Enhancers	Adipose Nuclei	Adipose
37	chr4:110993000-110994200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:110993000-110994200	Weak transcription	Ovary	ovary
39	chr4:110993000-110994400	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:110993000-110997400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:110993000-110998400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:110993000-111004000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:110993200-110994400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:110993200-110994400	Weak transcription	Brain Anterior Caudate	brain
45	chr4:110993200-110994400	Weak transcription	HUVEC	blood vessel
46	chr4:110993200-110994600	Weak transcription	Fetal Lung	lung
47	chr4:110993200-110995000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr4:110993200-111015400	Weak transcription	Psoas Muscle	Psoas
49	chr4:110993400-110994200	Weak transcription	Brain Angular Gyrus	brain
50	chr4:110993400-110994400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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