Variant report

Variant	rs4864611
Chromosome Location	chr4:57929577-57929578
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57929098..57931213-chr4:57932112..57933696,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10009533	0.82[JPT][hapmap]
rs11573051	0.82[JPT][hapmap]
rs11573063	0.82[JPT][hapmap]
rs11573079	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11934877	0.82[JPT][hapmap]
rs1713979	0.82[JPT][hapmap]
rs17183073	0.83[EUR][1000 genomes]
rs17183228	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs17183249	0.81[EUR][1000 genomes]
rs1718845	0.82[JPT][hapmap]
rs17761305	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs17787988	1.00[ASN][1000 genomes]
rs4865174	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs58389605	0.81[EUR][1000 genomes]
rs60727341	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57899600-57942200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:57915800-57930200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:57917600-57931000	Weak transcription	Pancreas	Pancrea
4	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:57920400-57930200	Weak transcription	Lung	lung
6	chr4:57921000-57931000	Weak transcription	NHEK	skin
7	chr4:57922800-57931200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:57923000-57930200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:57923000-57931000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:57923000-57931800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:57923000-57932000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:57923800-57937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:57924000-57929800	Weak transcription	Fetal Stomach	stomach
14	chr4:57924000-57931200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:57924200-57931200	Weak transcription	Spleen	Spleen
16	chr4:57926000-57931800	Genic enhancers	HSMMtube	muscle
17	chr4:57926400-57930800	Enhancers	Fetal Kidney	kidney
18	chr4:57926600-57932600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr4:57927000-57932600	Enhancers	Left Ventricle	heart
20	chr4:57927000-57937400	Weak transcription	Small Intestine	intestine
21	chr4:57927200-57930800	Enhancers	NH-A	brain
22	chr4:57927400-57931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:57927600-57931000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:57927600-57931000	Enhancers	NHDF-Ad	bronchial
25	chr4:57927600-57932600	Enhancers	Right Atrium	heart
26	chr4:57927800-57931600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:57928000-57931000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:57928000-57931400	Weak transcription	HMEC	breast
29	chr4:57928200-57930200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:57928200-57930600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:57928200-57931000	Enhancers	NHLF	lung
32	chr4:57928200-57932400	Enhancers	Colon Smooth Muscle	Colon
33	chr4:57928400-57930200	Weak transcription	HSMM	muscle
34	chr4:57928400-57932200	Enhancers	Fetal Heart	heart
35	chr4:57928400-57932600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:57928600-57929800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:57928800-57932200	Enhancers	Fetal Lung	lung
38	chr4:57929000-57930000	Enhancers	Liver	Liver
39	chr4:57929000-57930600	Enhancers	Ovary	ovary
40	chr4:57929000-57931000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:57929000-57931400	Enhancers	HUVEC	blood vessel
42	chr4:57929000-57932000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:57929000-57932400	Enhancers	Rectal Smooth Muscle	rectum
44	chr4:57929200-57929600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:57929200-57929600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:57929200-57929600	Enhancers	Adipose Nuclei	Adipose
47	chr4:57929200-57929600	Enhancers	Brain Hippocampus Middle	brain
48	chr4:57929200-57929600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr4:57929200-57929600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr4:57929200-57929600	Enhancers	Fetal Muscle Leg	muscle

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