Variant report

Variant	rs7150648
Chromosome Location	chr14:65890130-65890131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1009465	0.80[AFR][1000 genomes]
rs10142283	0.89[EUR][1000 genomes]
rs10144979	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10145146	0.81[EUR][1000 genomes]
rs10148529	0.87[EUR][1000 genomes]
rs10150412	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10152007	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10467734	0.81[AFR][1000 genomes]
rs10483776	0.96[ASN][1000 genomes]
rs10873190	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10873191	0.87[EUR][1000 genomes]
rs1113962	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11158595	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11158603	0.81[EUR][1000 genomes]
rs11158604	0.88[EUR][1000 genomes]
rs11629437	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11844682	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433597	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12587057	0.88[EUR][1000 genomes]
rs12885842	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17753508	0.84[ASN][1000 genomes]
rs1889731	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1953415	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1953418	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1959144	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1959145	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1999725	0.90[AMR][1000 genomes]
rs2092914	0.81[EUR][1000 genomes]
rs2149839	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2152374	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2183277	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2184601	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185454	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2210805	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268956	0.88[EUR][1000 genomes]
rs2411815	0.84[EUR][1000 genomes]
rs2411820	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898814	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2898816	0.80[AFR][1000 genomes]
rs2898818	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2898820	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3759680	0.89[ASN][1000 genomes]
rs3825639	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902399	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902404	0.87[EUR][1000 genomes]
rs6573612	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573614	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573616	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6573618	0.88[EUR][1000 genomes]
rs6573619	0.88[EUR][1000 genomes]
rs7140695	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7141536	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7142906	0.80[AMR][1000 genomes]
rs7143318	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7144415	0.83[EUR][1000 genomes]
rs7145500	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7145759	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7146993	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7147002	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7147536	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7147636	0.80[EUR][1000 genomes]
rs7150094	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150448	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7151561	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7153497	0.81[AFR][1000 genomes]
rs7157109	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158153	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72714423	0.93[ASN][1000 genomes]
rs72714428	0.96[ASN][1000 genomes]
rs72714433	0.96[ASN][1000 genomes]
rs72714436	0.96[ASN][1000 genomes]
rs72714439	0.96[ASN][1000 genomes]
rs72714440	0.96[ASN][1000 genomes]
rs72714442	0.96[ASN][1000 genomes]
rs72714447	0.96[ASN][1000 genomes]
rs72714460	0.89[ASN][1000 genomes]
rs72714461	0.89[ASN][1000 genomes]
rs72714468	0.89[ASN][1000 genomes]
rs72714478	0.89[ASN][1000 genomes]
rs72714482	0.86[ASN][1000 genomes]
rs72714483	0.82[ASN][1000 genomes]
rs72714484	0.81[ASN][1000 genomes]
rs8003464	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005243	0.88[EUR][1000 genomes]
rs8007497	0.86[EUR][1000 genomes]
rs8010726	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8011224	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8012834	0.81[AMR][1000 genomes]
rs8013442	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8017880	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019762	0.87[EUR][1000 genomes]
rs8022053	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9323460	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323461	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[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	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65880600-65899400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:65880600-65899400	Weak transcription	Small Intestine	intestine
3	chr14:65880800-65896800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:65880800-65898000	Weak transcription	Gastric	stomach
5	chr14:65880800-65904800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:65881000-65899400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr14:65881000-65902600	Weak transcription	Fetal Intestine Small	intestine
8	chr14:65881800-65895000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:65881800-65901000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr14:65881800-65902000	Weak transcription	Primary B cells from cord blood	blood
11	chr14:65881800-65902000	Weak transcription	Fetal Intestine Large	intestine
12	chr14:65882200-65890600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:65882400-65890400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:65882600-65900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:65882800-65890400	Weak transcription	Brain Germinal Matrix	brain
16	chr14:65883800-65890600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:65884200-65890600	Weak transcription	Stomach Mucosa	stomach
18	chr14:65886200-65895600	Weak transcription	Primary T cells from cord blood	blood
19	chr14:65886600-65905600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:65886800-65890600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:65886800-65890800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:65886800-65898000	Weak transcription	Dnd41	blood
23	chr14:65887000-65892600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:65887400-65898400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:65888200-65891400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:65888200-65892800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:65888200-65898800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:65888200-65898800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:65888400-65898800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:65888400-65905400	Weak transcription	Ovary	ovary
31	chr14:65888800-65892200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:65888800-65898800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr14:65889000-65898800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:65889000-65901400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:65889200-65890200	Weak transcription	Brain Anterior Caudate	brain
36	chr14:65889200-65890400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr14:65889200-65894000	Weak transcription	Brain Substantia Nigra	brain
38	chr14:65889200-65894400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr14:65889200-65894600	Weak transcription	Brain Angular Gyrus	brain
40	chr14:65889200-65898000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:65889200-65899400	Weak transcription	Colon Smooth Muscle	Colon
42	chr14:65889200-65899400	Weak transcription	NHDF-Ad	bronchial
43	chr14:65889400-65891200	Weak transcription	NH-A	brain
44	chr14:65889400-65891200	Weak transcription	Osteobl	bone
45	chr14:65889400-65892600	Weak transcription	K562	blood
46	chr14:65889400-65894600	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:65889600-65890600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:65889600-65891400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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