Variant report

Variant	rs9324916
Chromosome Location	chr5:142722660-142722661
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10482634	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10482655	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10482682	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11745958	0.90[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750172	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17209216	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17209237	0.92[EUR][1000 genomes]
rs17209251	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17209258	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17339455	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17399352	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2013935	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2398631	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2963156	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs33944801	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35501467	0.84[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4912903	0.97[ASN][1000 genomes]
rs4912906	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4912908	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4986593	0.95[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62375499	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62375502	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825941	chr5:142568715-142728031	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1033408	chr5:142701353-142738882	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142693800-142747400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:142702000-142725800	Weak transcription	Aorta	Aorta
3	chr5:142703000-142727200	Weak transcription	HSMM	muscle
4	chr5:142704200-142728800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:142705200-142725600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:142707400-142734800	Weak transcription	Placenta	Placenta
7	chr5:142707800-142727400	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:142708000-142724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:142708000-142727200	Weak transcription	Fetal Thymus	thymus
10	chr5:142708000-142727400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:142708000-142728800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:142708000-142735400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:142708000-142735400	Weak transcription	Fetal Stomach	stomach
14	chr5:142708600-142724400	Weak transcription	Fetal Intestine Small	intestine
15	chr5:142708800-142726400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:142709000-142725600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:142709000-142725800	Weak transcription	Primary T cells from cord blood	blood
18	chr5:142709200-142725600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:142711800-142728600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:142714800-142726200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:142715200-142726600	Weak transcription	HepG2	liver
22	chr5:142716000-142730200	Weak transcription	Fetal Lung	lung
23	chr5:142716400-142726400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr5:142716600-142734200	Weak transcription	Ovary	ovary
25	chr5:142717000-142725600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:142718800-142725800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:142719200-142726400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:142719400-142725000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:142719400-142725800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:142719400-142735400	Weak transcription	Gastric	stomach
31	chr5:142720400-142722800	Enhancers	Brain Anterior Caudate	brain
32	chr5:142720400-142722800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr5:142720400-142723200	Enhancers	Fetal Heart	heart
34	chr5:142720400-142723200	Genic enhancers	A549	lung
35	chr5:142720400-142723400	Enhancers	Colon Smooth Muscle	Colon
36	chr5:142720600-142723000	Enhancers	NHLF	lung
37	chr5:142720600-142723200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:142720600-142723200	Enhancers	Brain Cingulate Gyrus	brain
39	chr5:142720600-142723200	Enhancers	Brain Hippocampus Middle	brain
40	chr5:142720600-142723200	Enhancers	NHDF-Ad	bronchial
41	chr5:142720600-142723600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr5:142720600-142725600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:142720800-142723000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr5:142720800-142723200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:142721000-142723000	Strong transcription	Primary B cells from cord blood	blood
46	chr5:142721000-142723000	Enhancers	Brain Substantia Nigra	brain
47	chr5:142721000-142723400	Enhancers	K562	blood
48	chr5:142721200-142723000	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr5:142721200-142723400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:142721200-142727800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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