Variant report

Variant	rs1241643
Chromosome Location	chr14:25350754-25350755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11158950	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1270756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17185327	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17185348	1.00[JPT][hapmap]
rs58816267	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901505	chr14:25237268-25360584	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv901506	chr14:25295551-25377188	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1041445	chr14:25326692-25388290	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1810592	chr14:25346636-25354756	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25342800-25351000	Enhancers	Brain Substantia Nigra	brain
2	chr14:25343000-25351200	Enhancers	Brain Cingulate Gyrus	brain
3	chr14:25344000-25351000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:25344600-25354200	Weak transcription	Fetal Intestine Large	intestine
5	chr14:25346000-25358000	Weak transcription	Fetal Intestine Small	intestine
6	chr14:25346200-25351200	Enhancers	Brain Anterior Caudate	brain
7	chr14:25348800-25350800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr14:25348800-25351200	Enhancers	Fetal Heart	heart
9	chr14:25349000-25351000	Enhancers	Brain Hippocampus Middle	brain
10	chr14:25349000-25351200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:25349000-25351800	Enhancers	Fetal Muscle Leg	muscle
12	chr14:25349000-25351800	Enhancers	Left Ventricle	heart
13	chr14:25349200-25351000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:25349200-25351200	Enhancers	Brain Angular Gyrus	brain
15	chr14:25349200-25351200	Enhancers	HepG2	liver
16	chr14:25349200-25361800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:25349600-25351000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:25349600-25351000	Enhancers	Fetal Lung	lung
19	chr14:25349600-25351000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr14:25349600-25351000	Enhancers	Stomach Smooth Muscle	stomach
21	chr14:25349600-25351200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:25349800-25350800	Enhancers	Colon Smooth Muscle	Colon
23	chr14:25349800-25350800	Weak transcription	Right Atrium	heart
24	chr14:25349800-25351000	Enhancers	HSMM	muscle
25	chr14:25349800-25352800	Weak transcription	Psoas Muscle	Psoas
26	chr14:25349800-25357000	Weak transcription	Right Ventricle	heart
27	chr14:25350000-25351200	Enhancers	HSMMtube	muscle
28	chr14:25350200-25351000	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:25350200-25351000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr14:25350200-25354400	Weak transcription	Pancreas	Pancrea
31	chr14:25350400-25350800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:25350400-25351000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:25350400-25351200	Enhancers	Fetal Stomach	stomach
34	chr14:25350400-25353600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:25350600-25351800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:25350600-25354800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr14:25350600-25364600	Weak transcription	NHDF-Ad	bronchial

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