Variant report

Variant	rs254076
Chromosome Location	chr5:115891926-115891927
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115873178..115874811-chr5:115890679..115892572,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs153638	0.96[ASN][1000 genomes]
rs153640	0.99[ASN][1000 genomes]
rs153641	1.00[ASN][1000 genomes]
rs254077	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs254080	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs254206	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs254207	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs254208	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs254209	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs254210	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs254226	0.99[ASN][1000 genomes]
rs254227	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs254229	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs254234	0.95[ASN][1000 genomes]

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115878200-115893200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:115880800-115900600	Weak transcription	Fetal Kidney	kidney
3	chr5:115882600-115895400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:115884800-115893200	Enhancers	Brain Cingulate Gyrus	brain
5	chr5:115885400-115894000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:115885400-115894600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:115885800-115893600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr5:115886600-115892200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:115886600-115901000	Weak transcription	Placenta	Placenta
10	chr5:115887400-115895000	Weak transcription	Lung	lung
11	chr5:115887400-115897000	Weak transcription	Small Intestine	intestine
12	chr5:115888400-115893800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:115889000-115895200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:115889200-115892600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr5:115889200-115893600	Enhancers	Brain Substantia Nigra	brain
16	chr5:115889400-115893000	Enhancers	Fetal Intestine Small	intestine
17	chr5:115889400-115895000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:115889400-115899400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:115889600-115895400	Weak transcription	Fetal Brain Female	brain
20	chr5:115889600-115898400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:115890000-115893400	Enhancers	Brain Angular Gyrus	brain
22	chr5:115890000-115900800	Enhancers	Brain Hippocampus Middle	brain
23	chr5:115890200-115893200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:115890400-115893000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:115890400-115893600	Enhancers	HepG2	liver
26	chr5:115890600-115893800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:115890600-115907800	Weak transcription	Spleen	Spleen
28	chr5:115890800-115894800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:115890800-115894800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:115890800-115894800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:115890800-115895000	Weak transcription	Left Ventricle	heart
32	chr5:115890800-115895600	Weak transcription	Pancreas	Pancrea
33	chr5:115890800-115895800	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:115890800-115898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr5:115890800-115907600	Weak transcription	Colonic Mucosa	Colon
36	chr5:115891000-115892000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:115891000-115892400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
38	chr5:115891000-115892800	Weak transcription	Fetal Muscle Leg	muscle
39	chr5:115891000-115894200	Enhancers	Brain Anterior Caudate	brain
40	chr5:115891000-115894600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr5:115891000-115894600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:115891000-115894600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr5:115891000-115895800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:115891000-115898200	Weak transcription	Right Atrium	heart
45	chr5:115891000-115900600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:115891000-115907600	Weak transcription	Ovary	ovary
47	chr5:115891200-115892200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:115891200-115892600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:115891200-115904600	Weak transcription	Fetal Stomach	stomach
50	chr5:115891400-115893000	Weak transcription	Fetal Intestine Large	intestine

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