Variant report

Variant	rs2418324
Chromosome Location	chr9:117650989-117650990
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1006026	0.91[EUR][1000 genomes]
rs10081728	0.83[EUR][1000 genomes]
rs10817682	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10817683	0.91[EUR][1000 genomes]
rs10982445	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10982450	0.80[EUR][1000 genomes]
rs10982456	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1126711	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12337739	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12338765	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12347977	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12352646	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1322054	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1322056	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1322067	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1407309	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17292087	0.81[EUR][1000 genomes]
rs2075533	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2181036	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2208640	0.81[EUR][1000 genomes]
rs2295800	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2418325	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2974	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3181195	0.81[EUR][1000 genomes]
rs3181197	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3181200	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3181201	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3181202	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3181348	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3181364	0.81[EUR][1000 genomes]
rs3181365	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3181366	0.81[EUR][1000 genomes]
rs3181367	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3181368	0.80[EUR][1000 genomes]
rs3181369	0.80[EUR][1000 genomes]
rs3181370	0.80[EUR][1000 genomes]
rs3181371	0.80[EUR][1000 genomes]
rs3181372	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3181374	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3789879	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4978611	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4979470	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4979471	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4979472	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4979473	0.82[EUR][1000 genomes]
rs5003740	0.85[ASN][1000 genomes]
rs6478117	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7025577	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7028578	0.80[EUR][1000 genomes]
rs7030090	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7032773	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7037640	0.80[EUR][1000 genomes]
rs726657	0.82[EUR][1000 genomes]
rs7858603	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7872878	0.92[EUR][1000 genomes]
rs911603	0.88[AMR][1000 genomes]
rs927373	0.80[EUR][1000 genomes]
rs927374	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs927375	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831695	chr9:117567626-117726247	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv893767	chr9:117627569-117689838	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117643000-117652000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:117643800-117651000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr9:117647400-117651000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:117647400-117651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:117647600-117651000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:117647600-117651600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:117647600-117651600	Weak transcription	HMEC	breast
8	chr9:117647800-117651200	Weak transcription	Hela-S3	cervix
9	chr9:117647800-117651800	Weak transcription	Stomach Mucosa	stomach
10	chr9:117647800-117655600	Weak transcription	NHDF-Ad	bronchial
11	chr9:117649200-117652800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr9:117649400-117651400	Weak transcription	Esophagus	oesophagus
13	chr9:117649400-117653400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:117649400-117653400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr9:117649600-117651000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:117649600-117651200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr9:117649800-117651200	Enhancers	HepG2	liver
18	chr9:117650200-117652600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr9:117650200-117653000	Enhancers	Primary T cells from cord blood	blood
20	chr9:117650400-117651000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr9:117650400-117651400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:117650400-117651600	Enhancers	Fetal Lung	lung
23	chr9:117650400-117652400	Enhancers	Liver	Liver
24	chr9:117650400-117652800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr9:117650400-117652800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr9:117650400-117653000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr9:117650400-117653000	Enhancers	Dnd41	blood
28	chr9:117650600-117651400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:117650600-117651600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr9:117650600-117651600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr9:117650600-117652800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr9:117650600-117653600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr9:117650800-117651200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr9:117650800-117651600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr9:117650800-117651600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr9:117650800-117652400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr9:117650800-117652600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr9:117650800-117652800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr9:117650800-117652800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr9:117650800-117652800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr9:117650800-117652800	Enhancers	Fetal Thymus	thymus

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