Variant report

Variant	rs4899227
Chromosome Location	chr14:39812488-39812489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1040810	0.80[EUR][1000 genomes]
rs10872920	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11157053	0.80[EUR][1000 genomes]
rs11157054	0.80[EUR][1000 genomes]
rs11157057	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11157059	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12432397	0.82[EUR][1000 genomes]
rs12434140	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12897272	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1570132	0.80[EUR][1000 genomes]
rs1950952	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2082635	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2274396	0.80[ASN][1000 genomes]
rs28619058	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4902470	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4902528	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62000670	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6571915	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6571919	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8003117	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8018717	0.82[EUR][1000 genomes]
rs9322998	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs956109	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
3	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
7	chr14:39770000-39816400	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:39770600-39819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
10	chr14:39786600-39828600	Weak transcription	Spleen	Spleen
11	chr14:39786800-39823000	Strong transcription	Liver	Liver
12	chr14:39792600-39813800	Weak transcription	NHDF-Ad	bronchial
13	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr14:39793000-39822200	Weak transcription	Fetal Lung	lung
15	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
16	chr14:39796400-39817800	Weak transcription	HSMMtube	muscle
17	chr14:39796400-39828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
19	chr14:39797200-39815000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:39797600-39816000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:39802000-39835600	Weak transcription	Esophagus	oesophagus
22	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:39802600-39817000	Weak transcription	NHLF	lung
24	chr14:39802600-39835400	Weak transcription	Psoas Muscle	Psoas
25	chr14:39802800-39815200	Weak transcription	HSMM	muscle
26	chr14:39802800-39822000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:39802800-39828400	Weak transcription	Ovary	ovary
28	chr14:39802800-39828400	Weak transcription	Pancreas	Pancrea
29	chr14:39802800-39828600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:39802800-39835400	Weak transcription	Gastric	stomach
31	chr14:39802800-39839400	Weak transcription	Aorta	Aorta
32	chr14:39803000-39815000	Weak transcription	Placenta	Placenta
33	chr14:39803000-39816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:39803000-39835400	Weak transcription	Right Ventricle	heart
35	chr14:39803000-39845800	Weak transcription	NHEK	skin
36	chr14:39803200-39815000	Weak transcription	Dnd41	blood
37	chr14:39803200-39816000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr14:39803200-39816200	Weak transcription	Fetal Muscle Leg	muscle
39	chr14:39803200-39818000	Weak transcription	Brain Angular Gyrus	brain
40	chr14:39803200-39824600	Weak transcription	Brain Hippocampus Middle	brain
41	chr14:39803200-39833000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:39803200-39838400	Weak transcription	Thymus	Thymus
43	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:39803400-39813800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:39803400-39815600	Weak transcription	Fetal Kidney	kidney
47	chr14:39803400-39815800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:39803400-39816000	Weak transcription	Fetal Thymus	thymus
49	chr14:39803400-39843800	Weak transcription	HMEC	breast
50	chr14:39803600-39816000	Weak transcription	Fetal Muscle Trunk	muscle

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