Variant report

Variant	rs28548120
Chromosome Location	chr14:31794598-31794599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10129177	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130006	0.81[AFR][1000 genomes]
rs10130507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10136175	0.81[AFR][1000 genomes]
rs10140697	1.00[AMR][1000 genomes]
rs10146567	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10150602	0.81[AFR][1000 genomes]
rs10151215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151624	0.97[AFR][1000 genomes]
rs10151837	0.84[AFR][1000 genomes]
rs1111724	1.00[AMR][1000 genomes]
rs11844137	1.00[AMR][1000 genomes]
rs1952105	1.00[AMR][1000 genomes]
rs28591281	1.00[AMR][1000 genomes]
rs28623024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28637251	0.81[AFR][1000 genomes]
rs28729913	0.81[AFR][1000 genomes]
rs4981094	1.00[AMR][1000 genomes]
rs58291808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58631398	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61414525	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7359020	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010938	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31762400-31794800	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr14:31762800-31811800	Weak transcription	Fetal Heart	heart
3	chr14:31767800-31795200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:31768000-31798600	Weak transcription	Brain Germinal Matrix	brain
5	chr14:31768000-31805800	Weak transcription	NHEK	skin
6	chr14:31768200-31799200	Weak transcription	Colonic Mucosa	Colon
7	chr14:31768400-31798600	Weak transcription	Fetal Brain Female	brain
8	chr14:31769800-31798600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:31770000-31798200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:31770000-31812600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:31770400-31802800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:31771000-31888800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:31771600-31798600	Weak transcription	A549	lung
14	chr14:31772400-31825200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:31773400-31798200	Weak transcription	Right Ventricle	heart
16	chr14:31774400-31798600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:31774400-31800400	Weak transcription	Brain Angular Gyrus	brain
18	chr14:31774600-31811200	Weak transcription	HUVEC	blood vessel
19	chr14:31777000-31795000	Weak transcription	GM12878-XiMat	blood
20	chr14:31777200-31795400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:31777200-31799400	Weak transcription	Primary T cells from cord blood	blood
22	chr14:31780600-31795800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr14:31782200-31813000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:31782200-31814000	Weak transcription	Fetal Kidney	kidney
25	chr14:31782200-31875200	Weak transcription	Gastric	stomach
26	chr14:31782400-31798800	Weak transcription	Spleen	Spleen
27	chr14:31782400-31799200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:31782400-31799200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr14:31782400-31827000	Weak transcription	Aorta	Aorta
30	chr14:31782600-31798600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:31782600-31798800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:31782600-31798800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:31784600-31798600	Weak transcription	Brain Substantia Nigra	brain
34	chr14:31785000-31798000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:31785200-31798000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:31785200-31798200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:31785200-31799200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr14:31785400-31798000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:31785600-31798600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:31786200-31798600	Weak transcription	Esophagus	oesophagus
41	chr14:31786200-31799400	Weak transcription	Pancreas	Pancrea
42	chr14:31787000-31799200	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:31787200-31809200	Weak transcription	NHLF	lung
44	chr14:31787400-31799200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr14:31787600-31798600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:31787800-31798200	Weak transcription	Brain Anterior Caudate	brain
47	chr14:31788200-31796400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:31788200-31798000	Weak transcription	Fetal Intestine Large	intestine
49	chr14:31788200-31798600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:31788200-31798600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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