Variant report

Variant	rs1277295
Chromosome Location	chr4:57928957-57928958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10028733	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11573083	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1718835	1.00[CEU][hapmap];0.82[YRI][hapmap];0.94[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:61 , 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	chr4:57918000-57929000	Weak transcription	HUVEC	blood vessel
5	chr4:57918600-57929200	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:57918600-57936800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:57920400-57930200	Weak transcription	Lung	lung
8	chr4:57921000-57931000	Weak transcription	NHEK	skin
9	chr4:57922800-57931200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:57923000-57929200	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:57923000-57930200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:57923000-57931000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr4:57923000-57931800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:57923000-57932000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:57923800-57937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:57924000-57929400	Weak transcription	Brain Anterior Caudate	brain
17	chr4:57924000-57929800	Weak transcription	Fetal Stomach	stomach
18	chr4:57924000-57931200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr4:57924200-57929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:57924200-57931200	Weak transcription	Spleen	Spleen
21	chr4:57924800-57929400	Weak transcription	Right Ventricle	heart
22	chr4:57926000-57931800	Genic enhancers	HSMMtube	muscle
23	chr4:57926200-57929000	Enhancers	Aorta	Aorta
24	chr4:57926200-57929200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:57926200-57929400	Enhancers	A549	lung
26	chr4:57926400-57929200	Weak transcription	Adipose Nuclei	Adipose
27	chr4:57926400-57929200	Genic enhancers	Osteobl	bone
28	chr4:57926400-57930800	Enhancers	Fetal Kidney	kidney
29	chr4:57926600-57929400	Weak transcription	Fetal Intestine Small	intestine
30	chr4:57926600-57932600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr4:57926800-57929200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:57927000-57932600	Enhancers	Left Ventricle	heart
33	chr4:57927000-57937400	Weak transcription	Small Intestine	intestine
34	chr4:57927200-57929400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:57927200-57930800	Enhancers	NH-A	brain
36	chr4:57927400-57929200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:57927400-57931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:57927600-57931000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:57927600-57931000	Enhancers	NHDF-Ad	bronchial
40	chr4:57927600-57932600	Enhancers	Right Atrium	heart
41	chr4:57927800-57929000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr4:57927800-57931600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:57928000-57931000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:57928000-57931400	Weak transcription	HMEC	breast
45	chr4:57928200-57930200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:57928200-57930600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:57928200-57931000	Enhancers	NHLF	lung
48	chr4:57928200-57932400	Enhancers	Colon Smooth Muscle	Colon
49	chr4:57928400-57929400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:57928400-57929400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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