Variant report

Variant	rs9788537
Chromosome Location	chr14:70865101-70865102
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10083409	0.91[EUR][1000 genomes]
rs10130596	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10132815	0.95[ASN][1000 genomes]
rs10133919	0.90[EUR][1000 genomes]
rs10134376	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10137455	0.92[ASN][1000 genomes]
rs10139233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140161	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10140263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10140916	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10140938	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10141034	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10142875	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10146506	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146573	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146684	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148810	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149724	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10149895	0.91[EUR][1000 genomes]
rs10150618	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10873228	0.90[EUR][1000 genomes]
rs10873232	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11158856	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11620731	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11627279	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12164868	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12431557	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12433437	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12434413	0.94[ASN][1000 genomes]
rs12588332	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12886764	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12889915	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17475866	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17476211	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2275297	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2275298	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2332283	0.91[EUR][1000 genomes]
rs2332363	0.92[ASN][1000 genomes]
rs2332364	0.92[ASN][1000 genomes]
rs2332366	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2332367	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2332368	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332369	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332370	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332374	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332375	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332416	0.94[ASN][1000 genomes]
rs2332418	0.94[ASN][1000 genomes]
rs2332419	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2332420	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2332422	0.94[ASN][1000 genomes]
rs2877656	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2877658	0.92[ASN][1000 genomes]
rs2877659	0.92[ASN][1000 genomes]
rs2877660	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877670	0.94[ASN][1000 genomes]
rs35050325	0.92[EUR][1000 genomes]
rs3784155	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4048554	0.92[EUR][1000 genomes]
rs4600398	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4749	0.89[ASN][1000 genomes]
rs4899344	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899345	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902814	0.89[ASN][1000 genomes]
rs61977477	0.92[EUR][1000 genomes]
rs6420899	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573948	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573950	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573951	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573952	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573953	0.92[ASN][1000 genomes]
rs6573954	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573956	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573957	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573958	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573959	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573960	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144255	0.81[AFR][1000 genomes]
rs7144371	0.81[AFR][1000 genomes]
rs7144850	0.92[ASN][1000 genomes]
rs7145450	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146414	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146493	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146553	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147906	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148114	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7148889	0.92[ASN][1000 genomes]
rs7149261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7150558	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152300	0.87[ASN][1000 genomes]
rs7152584	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7152945	0.87[EUR][1000 genomes]
rs7154657	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155162	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155332	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155564	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155763	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7155967	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7157399	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7157430	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7158117	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158315	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159039	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160707	0.81[AFR][1000 genomes]
rs7160880	0.94[ASN][1000 genomes]
rs8005386	0.84[ASN][1000 genomes]
rs8006423	0.94[ASN][1000 genomes]
rs8008400	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8009793	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8011014	0.89[ASN][1000 genomes]
rs8011156	0.94[ASN][1000 genomes]
rs8013862	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8015825	0.81[AFR][1000 genomes]
rs8017274	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8021610	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022128	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8022288	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8022315	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9323535	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9323537	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9788426	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70827200-70882600	Weak transcription	A549	lung
2	chr14:70827200-70882600	Weak transcription	NH-A	brain
3	chr14:70832000-70872400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:70833800-70882400	Weak transcription	NHDF-Ad	bronchial
5	chr14:70838600-70870000	Weak transcription	NHEK	skin
6	chr14:70838600-70882400	Weak transcription	Hela-S3	cervix
7	chr14:70840200-70882400	Weak transcription	Colon Smooth Muscle	Colon
8	chr14:70840200-70882600	Weak transcription	Colonic Mucosa	Colon
9	chr14:70840800-70882800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:70841000-70882600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:70841400-70879800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:70842600-70868600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:70842600-70870600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr14:70842600-70882400	Weak transcription	Fetal Kidney	kidney
15	chr14:70842800-70868800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:70846800-70878600	Weak transcription	HSMM	muscle
17	chr14:70848400-70882400	Weak transcription	Brain Angular Gyrus	brain
18	chr14:70848400-70882800	Weak transcription	Psoas Muscle	Psoas
19	chr14:70848400-70883000	Weak transcription	HSMMtube	muscle
20	chr14:70848600-70882400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:70848600-70882800	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:70848800-70868600	Weak transcription	Left Ventricle	heart
23	chr14:70848800-70882600	Weak transcription	Brain Substantia Nigra	brain
24	chr14:70853600-70882400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:70853800-70880800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:70854800-70882400	Weak transcription	Brain Anterior Caudate	brain
27	chr14:70855000-70875400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:70855200-70882400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:70855600-70870400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:70855600-70874400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr14:70855600-70875600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:70856000-70866200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:70856000-70882400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr14:70858400-70868800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:70858400-70873200	Weak transcription	Small Intestine	intestine
36	chr14:70858800-70866000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr14:70859000-70868600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr14:70859000-70868800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:70859000-70870000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:70859000-70882800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:70862000-70865200	Weak transcription	HepG2	liver
42	chr14:70862200-70866200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:70863200-70866200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:70863800-70865400	Strong transcription	Primary B cells from cord blood	blood
45	chr14:70863800-70865400	Strong transcription	Fetal Lung	lung
46	chr14:70864000-70865200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr14:70864000-70865400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr14:70864000-70865400	Strong transcription	Brain Hippocampus Middle	brain
49	chr14:70864000-70866800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:70864200-70865200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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