Variant report

Variant	rs9322993
Chromosome Location	chr14:39605542-39605543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10130959	0.92[TSI][hapmap]
rs10132034	0.90[EUR][1000 genomes]
rs10132953	0.87[EUR][1000 genomes]
rs10143290	0.92[TSI][hapmap]
rs10148762	0.92[TSI][hapmap]
rs10149829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs10150863	0.92[TSI][hapmap]
rs10483539	0.92[TSI][hapmap]
rs11157046	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157047	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157048	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434446	0.92[TSI][hapmap]
rs12434607	0.81[EUR][1000 genomes]
rs12895329	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs175341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950509	0.85[EUR][1000 genomes]
rs1955917	0.87[EUR][1000 genomes]
rs1956629	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964842	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2038357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2064959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2082637	1.00[ASN][1000 genomes]
rs2099410	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2180214	0.87[EUR][1000 genomes]
rs2180217	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2180792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252040	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415525	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs3899404	0.87[EUR][1000 genomes]
rs4290398	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616209	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899125	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4899126	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4899139	0.87[EUR][1000 genomes]
rs4899140	0.87[EUR][1000 genomes]
rs4902294	0.87[EUR][1000 genomes]
rs4902402	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902419	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902500	0.92[TSI][hapmap]
rs56163817	0.92[ASN][1000 genomes]
rs6571888	0.87[EUR][1000 genomes]
rs6571889	0.87[EUR][1000 genomes]
rs6571890	1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6571891	1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6571894	0.90[EUR][1000 genomes]
rs6571896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571897	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs6571904	0.83[ASN][1000 genomes]
rs6571905	0.83[ASN][1000 genomes]
rs6571917	0.92[TSI][hapmap]
rs7140561	1.00[CEU][hapmap]
rs7147760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154585	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs761804	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761806	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761807	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003194	0.90[EUR][1000 genomes]
rs8003485	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003807	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010111	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012178	0.87[EUR][1000 genomes]
rs8014255	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014677	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8019161	0.85[TSI][hapmap]
rs8021225	0.91[ASN][1000 genomes]
rs8022141	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9671927	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970623	0.82[EUR][1000 genomes]
rs975591	0.87[EUR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
3	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
4	chr14:39584200-39610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
6	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
8	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
9	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
10	chr14:39584600-39609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:39585200-39608200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:39585800-39608200	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:39586000-39608000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:39586000-39608400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:39586000-39608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:39586000-39608800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:39586600-39610600	Strong transcription	HepG2	liver
19	chr14:39587200-39609600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:39587400-39608400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr14:39587600-39607800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
23	chr14:39589200-39609200	Weak transcription	Gastric	stomach
24	chr14:39589200-39610000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:39589200-39618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:39589200-39626400	Weak transcription	Fetal Heart	heart
27	chr14:39591800-39606600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr14:39592600-39622200	Weak transcription	Right Ventricle	heart
29	chr14:39592800-39606600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr14:39592800-39607400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:39592800-39618000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:39592800-39626600	Weak transcription	NHLF	lung
33	chr14:39594000-39620800	Weak transcription	Hela-S3	cervix
34	chr14:39594600-39606600	Weak transcription	Fetal Kidney	kidney
35	chr14:39594800-39608000	Weak transcription	Brain Angular Gyrus	brain
36	chr14:39596200-39621200	Weak transcription	Brain Substantia Nigra	brain
37	chr14:39596400-39607400	Weak transcription	Brain Anterior Caudate	brain
38	chr14:39596800-39608200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:39596800-39608600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr14:39597200-39608000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:39597400-39608200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:39597800-39607200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:39597800-39610000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:39598000-39612600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:39598200-39608000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:39598400-39606400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:39598400-39606600	Weak transcription	Ovary	ovary
48	chr14:39598400-39606800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:39598400-39608400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:39598600-39606600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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