Variant report

Variant	rs1277297
Chromosome Location	chr4:57927876-57927877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10031585	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713953	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713956	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713958	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1718834	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs4561981	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6848820	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7673762	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7698085	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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:60 , 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	chr4:57921800-57928200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:57922800-57931200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:57923000-57928600	Weak transcription	Psoas Muscle	Psoas
12	chr4:57923000-57929200	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:57923000-57930200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:57923000-57931000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:57923000-57931800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:57923000-57932000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:57923600-57928800	Weak transcription	Fetal Lung	lung
18	chr4:57923800-57937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:57924000-57929400	Weak transcription	Brain Anterior Caudate	brain
20	chr4:57924000-57929800	Weak transcription	Fetal Stomach	stomach
21	chr4:57924000-57931200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:57924200-57929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:57924200-57931200	Weak transcription	Spleen	Spleen
24	chr4:57924800-57929400	Weak transcription	Right Ventricle	heart
25	chr4:57926000-57931800	Genic enhancers	HSMMtube	muscle
26	chr4:57926200-57929000	Enhancers	Aorta	Aorta
27	chr4:57926200-57929200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:57926200-57929400	Enhancers	A549	lung
29	chr4:57926400-57929200	Weak transcription	Adipose Nuclei	Adipose
30	chr4:57926400-57929200	Genic enhancers	Osteobl	bone
31	chr4:57926400-57930800	Enhancers	Fetal Kidney	kidney
32	chr4:57926600-57928600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:57926600-57929400	Weak transcription	Fetal Intestine Small	intestine
34	chr4:57926600-57932600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr4:57926800-57928400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:57926800-57928600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:57926800-57928600	Enhancers	Ovary	ovary
38	chr4:57926800-57929200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:57927000-57932600	Enhancers	Left Ventricle	heart
40	chr4:57927000-57937400	Weak transcription	Small Intestine	intestine
41	chr4:57927200-57928200	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:57927200-57928600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:57927200-57929400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:57927200-57930800	Enhancers	NH-A	brain
45	chr4:57927400-57929200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr4:57927400-57931000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:57927600-57928000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:57927600-57928000	Enhancers	HMEC	breast
49	chr4:57927600-57928800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:57927600-57931000	Enhancers	Muscle Satellite Cultured Cells	--

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