Variant report

Variant	rs56348830
Chromosome Location	chr8:49341995-49341996
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49336668..49338331-chr8:49339946..49342790,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFCAB1-7	chr8:49340703-49343219	NONHSAT126478

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1123189	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16937171	0.83[EUR][1000 genomes]
rs55656120	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55811450	0.91[AMR][1000 genomes]
rs55847910	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55864946	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55914945	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55927958	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56054674	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56308602	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58223461	0.82[AMR][1000 genomes]
rs6471752	0.84[EUR][1000 genomes]
rs6989759	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72637690	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72637691	0.82[AMR][1000 genomes]
rs72637696	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72637697	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72637700	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72639004	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72639005	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72639010	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72639011	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72639012	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72639013	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72639016	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72639020	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72639023	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72639024	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72639025	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72639027	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72639028	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72639030	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72639032	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72639047	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72639052	0.82[AMR][1000 genomes]
rs72639070	0.82[AMR][1000 genomes]
rs907176	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49339200-49342600	Enhancers	Fetal Muscle Trunk	muscle
2	chr8:49339400-49342600	Enhancers	NHDF-Ad	bronchial
3	chr8:49339400-49345000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:49339400-49346400	Enhancers	Fetal Muscle Leg	muscle
5	chr8:49339600-49342600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:49339800-49342600	Enhancers	NHLF	lung
7	chr8:49339800-49342600	Enhancers	Osteobl	bone
8	chr8:49339800-49344800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr8:49340000-49342000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:49340000-49342600	Enhancers	Adipose Nuclei	Adipose
11	chr8:49340000-49342800	Enhancers	HUVEC	blood vessel
12	chr8:49340000-49343000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr8:49340000-49343000	Enhancers	HSMM	muscle
14	chr8:49340000-49343200	Enhancers	Ovary	ovary
15	chr8:49340000-49343400	Enhancers	Colonic Mucosa	Colon
16	chr8:49340000-49345000	Enhancers	Brain Cingulate Gyrus	brain
17	chr8:49340000-49345000	Enhancers	Placenta	Placenta
18	chr8:49340200-49343000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:49340200-49343200	Enhancers	NH-A	brain
20	chr8:49340200-49343600	Enhancers	Fetal Heart	heart
21	chr8:49340200-49344200	Enhancers	Fetal Intestine Large	intestine
22	chr8:49340200-49344400	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr8:49340200-49344600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:49340200-49345000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:49340400-49342400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr8:49340400-49345000	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:49340600-49344000	Weak transcription	Aorta	Aorta
28	chr8:49340600-49344800	Enhancers	Fetal Stomach	stomach
29	chr8:49340800-49344400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:49341000-49342800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:49341200-49342000	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr8:49341200-49342200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:49341200-49342400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:49341200-49342400	Enhancers	Stomach Mucosa	stomach
35	chr8:49341200-49342400	Enhancers	Spleen	Spleen
36	chr8:49341200-49342800	Enhancers	Pancreas	Pancrea
37	chr8:49341200-49342800	Enhancers	Right Ventricle	heart
38	chr8:49341200-49343000	Enhancers	Fetal Kidney	kidney
39	chr8:49341200-49343000	Enhancers	Left Ventricle	heart
40	chr8:49341200-49343000	Enhancers	Lung	lung
41	chr8:49341200-49343200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr8:49341200-49343800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr8:49341200-49343800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:49341200-49343800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:49341200-49344400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:49341200-49346200	Enhancers	Right Atrium	heart
47	chr8:49341200-49346400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:49341400-49342000	Enhancers	Fetal Lung	lung
49	chr8:49341400-49342200	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr8:49341400-49342200	Enhancers	Rectal Smooth Muscle	rectum

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