Variant report

Variant	rs1016377
Chromosome Location	chr4:53862768-53862769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:53841214..53843333-chr4:53860966..53863759,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17082212	0.90[YRI][hapmap]
rs17082226	0.87[AFR][1000 genomes]
rs17644026	0.90[YRI][hapmap]
rs58384787	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs58445669	0.96[AFR][1000 genomes]
rs59065063	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs61349657	0.96[AFR][1000 genomes]
rs6817299	0.90[YRI][hapmap]
rs6817431	0.87[AFR][1000 genomes]
rs6835661	0.81[AFR][1000 genomes]
rs73144963	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73144966	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73144968	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs73144982	0.96[AFR][1000 genomes]
rs73144990	0.96[AFR][1000 genomes]
rs73144997	0.96[AFR][1000 genomes]
rs7441164	0.82[ASW][hapmap];0.90[YRI][hapmap]
rs7658537	0.89[EUR][1000 genomes]
rs7683700	0.89[EUR][1000 genomes]
rs7696803	0.90[YRI][hapmap]
rs7696943	1.00[YRI][hapmap]

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	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv508280	chr4:53825060-53907661	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53850400-53864600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:53850400-53869600	Weak transcription	GM12878-XiMat	blood
3	chr4:53851000-53863200	Weak transcription	HepG2	liver
4	chr4:53857800-53870200	Weak transcription	Psoas Muscle	Psoas
5	chr4:53859200-53862800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:53859600-53867200	Enhancers	Ovary	ovary
7	chr4:53859800-53864600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:53860000-53864000	Enhancers	Fetal Stomach	stomach
9	chr4:53860000-53864600	Enhancers	Fetal Muscle Leg	muscle
10	chr4:53860000-53864600	Enhancers	Pancreas	Pancrea
11	chr4:53860400-53862800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:53860400-53863200	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:53860400-53864200	Weak transcription	Fetal Thymus	thymus
14	chr4:53861400-53864200	Enhancers	Placenta	Placenta
15	chr4:53861400-53864600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:53861400-53864600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:53861400-53864600	Enhancers	Left Ventricle	heart
18	chr4:53861600-53862800	Weak transcription	Right Atrium	heart
19	chr4:53861600-53863600	Enhancers	HUVEC	blood vessel
20	chr4:53861600-53866600	Enhancers	Fetal Lung	lung
21	chr4:53861800-53862800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:53861800-53863600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:53861800-53863600	Enhancers	HSMMtube	muscle
24	chr4:53861800-53864000	Enhancers	NHLF	lung
25	chr4:53861800-53864000	Enhancers	Osteobl	bone
26	chr4:53861800-53864200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:53861800-53864200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:53861800-53864400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr4:53862000-53862800	Flanking Active TSS	Fetal Heart	heart
30	chr4:53862000-53862800	Weak transcription	Gastric	stomach
31	chr4:53862000-53863400	Enhancers	NH-A	brain
32	chr4:53862000-53863800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:53862000-53863800	Enhancers	Aorta	Aorta
34	chr4:53862000-53863800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr4:53862000-53864000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:53862000-53864000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr4:53862200-53863000	Flanking Active TSS	NHDF-Ad	bronchial
38	chr4:53862200-53863400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:53862200-53863600	Enhancers	Adipose Nuclei	Adipose
40	chr4:53862200-53863600	Enhancers	Fetal Kidney	kidney
41	chr4:53862400-53862800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:53862400-53863000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:53862400-53863200	Enhancers	HSMM	muscle
44	chr4:53862400-53863400	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr4:53862400-53863800	Enhancers	Lung	lung
46	chr4:53862400-53864600	Enhancers	Right Ventricle	heart
47	chr4:53862400-53871400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:53862600-53862800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:53862600-53866000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:53862600-53866000	Weak transcription	Spleen	Spleen

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