Variant report

Variant	rs12891025
Chromosome Location	chr14:39814729-39814730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr14:39814585-39814783	HepG2	liver:	n/a	n/a
2	MAFF	chr14:39814565-39814732	HepG2	liver:	n/a	n/a
3	MAFK	chr14:39814596-39814800	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CTAGE5	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11560068	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12891299	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17621388	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2415542	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4531652	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7143942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017737	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8020472	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8020596	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
2	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
6	chr14:39770000-39816400	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:39770600-39819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
9	chr14:39786600-39828600	Weak transcription	Spleen	Spleen
10	chr14:39786800-39823000	Strong transcription	Liver	Liver
11	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:39793000-39822200	Weak transcription	Fetal Lung	lung
13	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
14	chr14:39796400-39817800	Weak transcription	HSMMtube	muscle
15	chr14:39796400-39828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
17	chr14:39797200-39815000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:39797600-39816000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:39802000-39835600	Weak transcription	Esophagus	oesophagus
20	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:39802600-39817000	Weak transcription	NHLF	lung
22	chr14:39802600-39835400	Weak transcription	Psoas Muscle	Psoas
23	chr14:39802800-39815200	Weak transcription	HSMM	muscle
24	chr14:39802800-39822000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:39802800-39828400	Weak transcription	Ovary	ovary
26	chr14:39802800-39828400	Weak transcription	Pancreas	Pancrea
27	chr14:39802800-39828600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr14:39802800-39835400	Weak transcription	Gastric	stomach
29	chr14:39802800-39839400	Weak transcription	Aorta	Aorta
30	chr14:39803000-39815000	Weak transcription	Placenta	Placenta
31	chr14:39803000-39816000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:39803000-39835400	Weak transcription	Right Ventricle	heart
33	chr14:39803000-39845800	Weak transcription	NHEK	skin
34	chr14:39803200-39815000	Weak transcription	Dnd41	blood
35	chr14:39803200-39816000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr14:39803200-39816200	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:39803200-39818000	Weak transcription	Brain Angular Gyrus	brain
38	chr14:39803200-39824600	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:39803200-39833000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:39803200-39838400	Weak transcription	Thymus	Thymus
41	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:39803400-39815600	Weak transcription	Fetal Kidney	kidney
44	chr14:39803400-39815800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:39803400-39816000	Weak transcription	Fetal Thymus	thymus
46	chr14:39803400-39843800	Weak transcription	HMEC	breast
47	chr14:39803600-39816000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr14:39804000-39816000	Weak transcription	Lung	lung
49	chr14:39806800-39816000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr14:39807000-39814800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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