Variant report

Variant	rs17109185
Chromosome Location	chr14:39866823-39866824
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17109203	1.00[MEX][hapmap]
rs17109219	1.00[ASW][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28398804	0.87[AFR][1000 genomes]
rs56804791	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59337169	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7140854	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7146753	0.88[AFR][1000 genomes]
rs7156962	1.00[ASW][hapmap];0.91[LWK][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes]
rs7158282	0.83[YRI][hapmap];0.91[AFR][1000 genomes]
rs73285548	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285551	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285587	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285597	0.98[AFR][1000 genomes];1.00[AMR][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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
2	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr14:39835400-39872400	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:39836200-39872800	Weak transcription	Esophagus	oesophagus
5	chr14:39836400-39870600	Weak transcription	Gastric	stomach
6	chr14:39840000-39867000	Weak transcription	Left Ventricle	heart
7	chr14:39840000-39867400	Weak transcription	Pancreas	Pancrea
8	chr14:39840000-39882600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:39840200-39867200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:39841200-39867000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr14:39846200-39878800	Weak transcription	Right Ventricle	heart
12	chr14:39846400-39867200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:39846800-39872400	Weak transcription	HSMMtube	muscle
14	chr14:39850400-39870800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:39851200-39868600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:39851400-39868600	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:39851400-39868600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:39853000-39867400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr14:39853000-39867400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:39853200-39867800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:39853600-39867200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:39853600-39874200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:39854400-39872600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr14:39855400-39868800	Weak transcription	Aorta	Aorta
25	chr14:39856200-39867200	Weak transcription	Thymus	Thymus
26	chr14:39857000-39870400	Weak transcription	Brain Germinal Matrix	brain
27	chr14:39860000-39867000	Weak transcription	Ovary	ovary
28	chr14:39860200-39882200	Weak transcription	Fetal Heart	heart
29	chr14:39860400-39868600	Weak transcription	A549	lung
30	chr14:39860600-39867200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr14:39860800-39868400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:39861000-39867200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:39861000-39868400	Weak transcription	Hela-S3	cervix
34	chr14:39861200-39871800	Weak transcription	Fetal Brain Male	brain
35	chr14:39861200-39872200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:39861400-39868000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr14:39861400-39874000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:39861600-39867000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:39861800-39872000	Weak transcription	K562	blood
40	chr14:39862000-39867200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:39862000-39868800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:39862000-39886000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr14:39862400-39867200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr14:39862400-39870800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:39862400-39871000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:39862400-39871200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr14:39862400-39871400	Strong transcription	Liver	Liver
48	chr14:39862400-39874800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:39862600-39868400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:39862600-39868600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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