Variant report

Variant	rs4865864
Chromosome Location	chr5:53997802-53997803
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:53991357..53995095-chr5:53995631..53999040,4	K562	blood:
2	chr5:53975288..53977099-chr5:53997227..53999816,2	K562	blood:
3	chr5:53988043..53990652-chr5:53996716..53998540,2	K562	blood:
4	chr5:53996151..53998533-chr5:54037504..54039404,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12523476	0.92[EUR][1000 genomes]
rs12659365	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13164810	0.94[EUR][1000 genomes]
rs1373990	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1542165	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1562232	0.98[ASN][1000 genomes]
rs1823055	0.82[EUR][1000 genomes]
rs1867684	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35429219	0.89[EUR][1000 genomes]
rs4242042	0.90[JPT][hapmap]
rs4282276	0.94[ASN][1000 genomes]
rs4286627	0.84[ASN][1000 genomes]
rs4302535	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4429808	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4485879	0.94[EUR][1000 genomes]
rs4562000	0.82[EUR][1000 genomes]
rs4588542	0.94[EUR][1000 genomes]
rs4627947	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865582	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865584	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865866	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865867	0.93[EUR][1000 genomes]
rs56046642	0.95[EUR][1000 genomes]
rs6450239	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450240	0.95[ASN][1000 genomes]
rs6450242	0.94[ASN][1000 genomes]
rs6450243	0.93[EUR][1000 genomes]
rs6876610	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877012	0.91[EUR][1000 genomes]
rs6894873	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706028	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719575	0.94[ASN][1000 genomes]
rs7727742	0.94[ASN][1000 genomes]

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53987400-53999600	Weak transcription	Pancreas	Pancrea
2	chr5:53990000-53999000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:53990600-53999000	Weak transcription	Right Ventricle	heart
4	chr5:53990800-53998800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:53992600-53998400	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:53993000-53998400	Weak transcription	Brain Substantia Nigra	brain
7	chr5:53993000-53999000	Weak transcription	Placenta	Placenta
8	chr5:53993200-53998200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:53993200-53998400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:53993200-53998600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:53993400-53998200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:53993400-53998600	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:53993800-53998200	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:53994000-53998800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:53994000-53999000	Weak transcription	Fetal Brain Male	brain
16	chr5:53994200-53998800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:53994600-53999000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:53995000-53998400	Enhancers	NH-A	brain
19	chr5:53995200-53998200	Weak transcription	Fetal Lung	lung
20	chr5:53995800-53999800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:53996000-53999000	Weak transcription	Left Ventricle	heart
22	chr5:53996000-53999600	Enhancers	HMEC	breast
23	chr5:53996200-54000000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:53996400-53999400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:53996600-53998400	Enhancers	NHDF-Ad	bronchial
26	chr5:53996600-53999200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:53996600-53999400	Enhancers	NHLF	lung
28	chr5:53996600-53999800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:53996600-53999800	Enhancers	Osteobl	bone
30	chr5:53996800-53998600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:53996800-53999600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:53996800-53999600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:53996800-54001600	Enhancers	Fetal Heart	heart
34	chr5:53997000-53998400	Enhancers	Adipose Nuclei	Adipose
35	chr5:53997200-53999800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:53997200-54000000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:53997400-53998200	Weak transcription	Right Atrium	heart
38	chr5:53997400-53998400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:53997400-53998400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:53997400-53998600	Weak transcription	Brain Anterior Caudate	brain
41	chr5:53997400-53998800	Weak transcription	Fetal Stomach	stomach
42	chr5:53997400-53999000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:53997400-53999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:53997400-53999000	Weak transcription	Ovary	ovary
45	chr5:53997400-53999000	Weak transcription	Spleen	Spleen
46	chr5:53997400-54000200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr5:53997600-53998000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:53997600-53998000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr5:53997600-53998200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:53997600-53998600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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