Variant report

Variant	rs249021
Chromosome Location	chr5:79758715-79758716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10052497	0.81[EUR][1000 genomes]
rs10433	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10942926	0.97[ASN][1000 genomes]
rs1097307	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1097308	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1097309	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1102116	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1103116	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13354660	1.00[JPT][hapmap]
rs1363775	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs168938	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs168939	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs168940	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs171595	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs171596	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs171821	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs173597	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs173599	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs174075	1.00[CEU][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1820119	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs185100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187478	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs187479	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs192313	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs194540	0.86[ASN][1000 genomes]
rs2112152	0.86[EUR][1000 genomes]
rs2251759	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs248995	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs248999	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs249000	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs249001	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs249003	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs249004	0.92[ASN][1000 genomes]
rs249005	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs249006	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs249015	0.91[AFR][1000 genomes]
rs249016	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs249018	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs249019	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs249020	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs249023	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs249024	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs249025	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs249026	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs249027	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs249028	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs249029	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs249030	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs249031	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs249032	0.92[ASN][1000 genomes]
rs249033	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs249037	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs249038	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs249039	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs249040	0.93[AFR][1000 genomes]
rs2544591	0.81[ASN][1000 genomes]
rs2544592	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2544593	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2544598	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2544599	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2544600	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2544603	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2544604	0.97[ASN][1000 genomes]
rs2547487	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2547497	0.83[EUR][1000 genomes]
rs259023	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs259024	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs259025	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs259026	0.87[ASN][1000 genomes]
rs259027	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs259028	0.97[ASN][1000 genomes]
rs259029	0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs259030	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs259031	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259032	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs259033	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259034	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs259035	0.83[EUR][1000 genomes]
rs259039	0.81[ASN][1000 genomes]
rs259040	0.81[ASN][1000 genomes]
rs259041	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs259042	0.81[ASN][1000 genomes]
rs259043	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs259044	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs259045	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs259046	0.81[ASN][1000 genomes]
rs259047	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs259048	0.81[ASN][1000 genomes]
rs259049	1.00[JPT][hapmap]
rs259051	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs259052	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs259053	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs259054	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs259055	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2599508	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3095850	0.88[AFR][1000 genomes]
rs3095851	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3096111	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs394076	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs394170	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs399261	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs401612	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs408899	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4704674	0.97[ASN][1000 genomes]
rs557346	0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6887302	1.00[JPT][hapmap]
rs701380	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs835726	0.85[ASN][1000 genomes]
rs835728	0.81[ASN][1000 genomes]
rs835729	0.89[ASN][1000 genomes]
rs835731	0.82[EUR][1000 genomes]
rs856765	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs856772	0.92[ASN][1000 genomes]
rs863163	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs969567	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv1028027	chr5:79694699-79841752	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79722600-79765400	Weak transcription	Fetal Brain Male	brain
2	chr5:79730200-79761400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:79730200-79762200	Weak transcription	Stomach Mucosa	stomach
4	chr5:79730600-79762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:79731400-79768000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:79732200-79766200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:79733400-79782600	Weak transcription	NHLF	lung
8	chr5:79736400-79759600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr5:79738000-79761800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:79739800-79760000	Weak transcription	Right Ventricle	heart
11	chr5:79744800-79783200	Weak transcription	Colonic Mucosa	Colon
12	chr5:79748000-79758800	Weak transcription	Hela-S3	cervix
13	chr5:79748000-79760000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:79748800-79758800	Weak transcription	HepG2	liver
15	chr5:79750800-79759000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:79751400-79762000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:79751600-79759400	Strong transcription	Adipose Nuclei	Adipose
18	chr5:79751600-79763600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr5:79751600-79763600	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:79751800-79759600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr5:79751800-79761400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:79751800-79761600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:79751800-79766400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:79752800-79758800	Strong transcription	Fetal Intestine Large	intestine
25	chr5:79753000-79765000	Weak transcription	Psoas Muscle	Psoas
26	chr5:79753400-79759200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:79753400-79769600	Weak transcription	HUVEC	blood vessel
28	chr5:79753600-79759200	Weak transcription	HMEC	breast
29	chr5:79754600-79769600	Weak transcription	Osteobl	bone
30	chr5:79755400-79758800	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:79755400-79762200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:79755600-79768000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:79756000-79761200	ZNF genes & repeats	Dnd41	blood
34	chr5:79756400-79760200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:79756400-79761800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:79756800-79760200	Weak transcription	Fetal Heart	heart
37	chr5:79757000-79759000	Strong transcription	Brain Hippocampus Middle	brain
38	chr5:79757000-79759400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr5:79757000-79760200	Strong transcription	Ovary	ovary
40	chr5:79757000-79760400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:79757000-79761000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr5:79757000-79762000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:79757000-79770000	Weak transcription	NHDF-Ad	bronchial
44	chr5:79757200-79759000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:79757200-79759200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:79757200-79759400	Strong transcription	Fetal Kidney	kidney
47	chr5:79757200-79759600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:79757200-79760400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr5:79757200-79761000	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:79757200-79763400	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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