Variant report

Variant	rs7154042
Chromosome Location	chr14:31438947-31438948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10129452	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10135412	0.95[ASN][1000 genomes]
rs10138011	0.87[ASN][1000 genomes]
rs10138452	0.99[ASN][1000 genomes]
rs10140025	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10140238	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10145545	0.95[ASN][1000 genomes]
rs10147690	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10151219	0.94[ASN][1000 genomes]
rs1033559	0.94[ASN][1000 genomes]
rs10444696	0.90[ASN][1000 genomes]
rs10872848	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12019004	0.99[ASN][1000 genomes]
rs12436401	0.95[ASN][1000 genomes]
rs12590617	0.99[ASN][1000 genomes]
rs12884687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17448194	0.96[ASN][1000 genomes]
rs179698	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179699	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179701	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179702	0.88[ASN][1000 genomes]
rs179704	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179705	0.89[ASN][1000 genomes]
rs179706	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs179707	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs179709	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs179710	0.90[ASN][1000 genomes]
rs179711	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs179712	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs179714	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179715	0.87[AMR][1000 genomes]
rs179717	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179718	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179720	0.88[ASN][1000 genomes]
rs179721	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs179722	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs179725	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs179726	0.85[ASN][1000 genomes]
rs179731	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179733	0.85[ASN][1000 genomes]
rs179734	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179736	0.85[ASN][1000 genomes]
rs179737	0.85[ASN][1000 genomes]
rs179743	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs179744	0.85[ASN][1000 genomes]
rs1884057	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2024662	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2144040	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179934	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2378813	0.96[ASN][1000 genomes]
rs28535014	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28648046	0.99[ASN][1000 genomes]
rs3784157	0.81[EUR][1000 genomes]
rs3898581	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4340230	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981811	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981812	0.99[ASN][1000 genomes]
rs6571380	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66463317	0.92[ASN][1000 genomes]
rs67209135	0.99[ASN][1000 genomes]
rs7140306	0.87[EUR][1000 genomes]
rs7140667	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7143488	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7149411	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7150581	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7150642	0.85[ASN][1000 genomes]
rs7153141	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7155894	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7350754	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8018402	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322865	0.87[EUR][1000 genomes]
rs9322869	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3429977	chr14:31435166-31441360	Weak transcription ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
2	chr14:31420200-31464400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:31425600-31442800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:31425600-31443000	Weak transcription	HUVEC	blood vessel
5	chr14:31434600-31439200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:31435800-31442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:31436000-31439000	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:31436000-31439600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:31436000-31441800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:31436000-31442200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:31436000-31442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:31436000-31457400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:31436200-31439000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr14:31436200-31439000	Weak transcription	Right Ventricle	heart
15	chr14:31436200-31439200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:31436200-31439200	Weak transcription	Brain Substantia Nigra	brain
17	chr14:31436200-31439400	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:31436200-31439600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:31436200-31439600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:31436200-31439800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:31436200-31439800	Weak transcription	Brain Angular Gyrus	brain
22	chr14:31436200-31440000	Weak transcription	Left Ventricle	heart
23	chr14:31436200-31441400	Weak transcription	Aorta	Aorta
24	chr14:31436200-31441800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:31436200-31441800	Weak transcription	Ovary	ovary
26	chr14:31436200-31442200	Weak transcription	Pancreas	Pancrea
27	chr14:31436200-31442200	Weak transcription	Hela-S3	cervix
28	chr14:31436200-31443000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr14:31436200-31443000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr14:31436200-31443000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:31436200-31447000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:31436200-31449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:31436200-31457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:31436400-31439000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr14:31436400-31439000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:31436400-31439200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:31436400-31439400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:31436400-31439600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:31436400-31440000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:31436400-31440200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:31436400-31440800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:31436400-31441000	Weak transcription	Stomach Mucosa	stomach
43	chr14:31436400-31441200	Weak transcription	Colonic Mucosa	Colon
44	chr14:31436400-31441400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr14:31436400-31441400	Weak transcription	Esophagus	oesophagus
46	chr14:31436400-31441400	Weak transcription	Gastric	stomach
47	chr14:31436400-31442000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr14:31436400-31442200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:31436400-31442200	Weak transcription	Adipose Nuclei	Adipose
50	chr14:31436400-31442200	Weak transcription	Lung	lung

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