Variant report

Variant	rs28648046
Chromosome Location	chr14:31434569-31434570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10135412	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10138011	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10138452	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140025	0.88[ASN][1000 genomes]
rs10140238	0.94[ASN][1000 genomes]
rs10145545	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10147690	0.94[ASN][1000 genomes]
rs10151219	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1033559	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10444696	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10872848	0.99[ASN][1000 genomes]
rs12019004	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12434740	0.81[EUR][1000 genomes]
rs12436401	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12590617	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884687	0.99[ASN][1000 genomes]
rs17097477	0.82[EUR][1000 genomes]
rs17448194	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs179698	0.87[ASN][1000 genomes]
rs179699	0.87[ASN][1000 genomes]
rs179701	0.87[ASN][1000 genomes]
rs179702	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179704	0.87[ASN][1000 genomes]
rs179705	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs179706	0.88[ASN][1000 genomes]
rs179707	0.89[ASN][1000 genomes]
rs179709	0.89[ASN][1000 genomes]
rs179710	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs179711	0.80[ASN][1000 genomes]
rs179712	0.89[ASN][1000 genomes]
rs179714	0.88[ASN][1000 genomes]
rs179717	0.88[ASN][1000 genomes]
rs179718	0.88[ASN][1000 genomes]
rs179720	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179721	0.87[ASN][1000 genomes]
rs179722	0.86[ASN][1000 genomes]
rs179725	0.85[ASN][1000 genomes]
rs179726	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179731	0.85[ASN][1000 genomes]
rs179733	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179734	0.85[ASN][1000 genomes]
rs179736	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179737	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179744	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1884057	0.99[ASN][1000 genomes]
rs1967699	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2024662	0.90[ASN][1000 genomes]
rs2144040	0.99[ASN][1000 genomes]
rs2179934	0.99[ASN][1000 genomes]
rs2378813	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28535014	0.99[ASN][1000 genomes]
rs3898581	0.99[ASN][1000 genomes]
rs4340230	0.99[ASN][1000 genomes]
rs4981811	0.99[ASN][1000 genomes]
rs4981812	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571380	0.91[ASN][1000 genomes]
rs66463317	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67209135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67648672	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7140306	0.81[ASN][1000 genomes]
rs7140667	0.87[ASN][1000 genomes]
rs7143488	0.86[ASN][1000 genomes]
rs7149411	0.84[ASN][1000 genomes]
rs7150581	0.96[ASN][1000 genomes]
rs7150642	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7153141	0.94[ASN][1000 genomes]
rs7154042	0.99[ASN][1000 genomes]
rs7155894	0.88[ASN][1000 genomes]
rs72668364	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72668370	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7350754	0.94[ASN][1000 genomes]
rs8018402	0.96[ASN][1000 genomes]
rs9322866	0.81[EUR][1000 genomes]
rs9322869	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1231	chr14:31424602-31444721	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31360200-31435600	Weak transcription	Gastric	stomach
3	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
4	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
5	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
6	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
8	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
9	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:31395000-31435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:31395000-31435200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:31410600-31435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:31413400-31435200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:31415000-31437200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:31415800-31435200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:31416000-31435200	Weak transcription	Spleen	Spleen
17	chr14:31416000-31435400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr14:31416000-31435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:31416000-31435600	Weak transcription	NHLF	lung
20	chr14:31416200-31435600	Weak transcription	Thymus	Thymus
21	chr14:31416600-31435600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:31416600-31435800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:31417000-31435200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:31417000-31435600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:31420000-31435400	Weak transcription	Fetal Thymus	thymus
26	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:31420800-31435400	Weak transcription	NHDF-Ad	bronchial
28	chr14:31423200-31435200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:31423200-31435200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:31423400-31435400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:31423400-31435400	Weak transcription	NHEK	skin
32	chr14:31423400-31435600	Weak transcription	Hela-S3	cervix
33	chr14:31424000-31435200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr14:31424200-31435200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:31424400-31435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:31424400-31435200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:31424400-31435200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr14:31424400-31435600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:31424400-31435800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:31424800-31434600	Weak transcription	Placenta	Placenta
41	chr14:31424800-31435200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:31425200-31435600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:31425400-31435200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr14:31425400-31435600	Weak transcription	Osteobl	bone
45	chr14:31425600-31435200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr14:31425600-31435200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:31425600-31435200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr14:31425600-31435400	Weak transcription	HSMM	muscle
49	chr14:31425600-31435400	Weak transcription	NH-A	brain
50	chr14:31425600-31435600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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