Variant report

Variant	rs17109123
Chromosome Location	chr14:39784849-39784850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11623676	1.00[AMR][1000 genomes]
rs17108840	1.00[MEX][hapmap]
rs17108884	1.00[MEX][hapmap]
rs17108885	1.00[MEX][hapmap]
rs17108962	1.00[MEX][hapmap]
rs17108984	1.00[MEX][hapmap]
rs17109037	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs17109079	1.00[MEX][hapmap]
rs17109135	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109146	1.00[AMR][1000 genomes]
rs17109165	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17109170	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs17109216	1.00[AMR][1000 genomes]
rs17109235	0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs1950332	1.00[AMR][1000 genomes]
rs1955717	1.00[AMR][1000 genomes]
rs1955723	1.00[AMR][1000 genomes]
rs1955728	1.00[AMR][1000 genomes]
rs2057140	1.00[AMR][1000 genomes]
rs2196170	1.00[AMR][1000 genomes]
rs4438203	1.00[AMR][1000 genomes]
rs4899281	1.00[AMR][1000 genomes]
rs4899288	1.00[AMR][1000 genomes]
rs4899299	1.00[AMR][1000 genomes]
rs4902644	1.00[AMR][1000 genomes]
rs57704406	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59310392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6571903	1.00[MEX][hapmap]
rs7142121	1.00[AMR][1000 genomes]
rs7144933	1.00[MEX][hapmap]
rs7150364	1.00[MEX][hapmap]
rs7153292	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs719456	0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs8005801	1.00[AMR][1000 genomes]
rs8014741	1.00[MEX][hapmap]
rs8016370	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs926805	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:117 , 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	chr14:39749400-39785400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
4	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:39756000-39788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
7	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:39756800-39797800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr14:39757400-39796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:39759400-39801800	Weak transcription	NHLF	lung
12	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
13	chr14:39764000-39786200	Weak transcription	Brain Substantia Nigra	brain
14	chr14:39764400-39785400	Weak transcription	Esophagus	oesophagus
15	chr14:39764600-39785600	Weak transcription	Gastric	stomach
16	chr14:39764600-39785600	Weak transcription	Psoas Muscle	Psoas
17	chr14:39764600-39790000	Weak transcription	Fetal Brain Female	brain
18	chr14:39764600-39808200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:39764800-39802400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:39764800-39805200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:39765000-39785800	Weak transcription	Lung	lung
23	chr14:39765400-39785600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:39765600-39789400	Weak transcription	HMEC	breast
25	chr14:39765600-39803800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:39765600-39807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:39765800-39785400	Weak transcription	Brain Angular Gyrus	brain
28	chr14:39766800-39790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:39766800-39791800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:39767000-39785400	Weak transcription	Aorta	Aorta
31	chr14:39767000-39785400	Weak transcription	Ovary	ovary
32	chr14:39767000-39785400	Weak transcription	Spleen	Spleen
33	chr14:39767000-39785600	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:39767000-39796000	Weak transcription	Thymus	Thymus
35	chr14:39767200-39801400	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:39767200-39801600	Weak transcription	Right Ventricle	heart
37	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
38	chr14:39767400-39785200	Weak transcription	Brain Anterior Caudate	brain
39	chr14:39767600-39785400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:39768800-39785200	Weak transcription	NHEK	skin
41	chr14:39769600-39785600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:39769800-39796000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr14:39769800-39796000	Weak transcription	Dnd41	blood
44	chr14:39769800-39808000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:39770000-39816400	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:39770600-39786000	Weak transcription	Fetal Stomach	stomach
47	chr14:39770600-39786000	Weak transcription	Pancreas	Pancrea
48	chr14:39770600-39819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
50	chr14:39771000-39785600	Weak transcription	Fetal Lung	lung

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