Variant report

Variant	rs173599
Chromosome Location	chr5:79760522-79760523
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10433	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10474621	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10474629	1.00[CEU][hapmap]
rs10942926	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1097307	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1097308	0.90[ASN][1000 genomes]
rs1097309	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1102116	0.95[ASN][1000 genomes]
rs1103116	0.92[ASN][1000 genomes]
rs1104243	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13354660	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13359253	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1363775	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1423113	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16877755	0.92[EUR][1000 genomes]
rs16877757	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs168938	0.90[ASN][1000 genomes]
rs168939	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs168940	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs171595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs171596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs171821	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs173597	0.95[ASN][1000 genomes]
rs173598	0.93[AFR][1000 genomes]
rs174075	1.00[ASN][1000 genomes]
rs174076	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1820119	1.00[ASN][1000 genomes]
rs185100	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs187478	0.95[ASN][1000 genomes]
rs187479	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs192313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs194540	0.88[ASN][1000 genomes]
rs194541	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2251759	1.00[CEU][hapmap];1.00[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];1.00[ASN][1000 genomes]
rs248995	0.85[CHB][hapmap]
rs248999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249000	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs249001	0.95[ASN][1000 genomes]
rs249003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249004	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249005	0.95[ASN][1000 genomes]
rs249006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249016	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs249020	0.88[ASN][1000 genomes]
rs249021	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs249023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249024	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs249025	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs249026	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs249027	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs249028	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs249029	0.95[ASN][1000 genomes]
rs249030	1.00[CHB][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249031	0.95[ASN][1000 genomes]
rs249032	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249033	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs249037	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs249038	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249039	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2544591	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2544592	0.90[ASN][1000 genomes]
rs2544593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2544598	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2544599	1.00[ASN][1000 genomes]
rs2544600	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2544603	1.00[ASN][1000 genomes]
rs2544604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2547487	0.90[ASN][1000 genomes]
rs259023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259025	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs259026	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259027	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259028	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259029	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs259030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259031	1.00[ASN][1000 genomes]
rs259032	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259033	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs259034	1.00[ASN][1000 genomes]
rs259036	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs259037	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs259038	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs259039	0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs259040	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259041	0.84[ASN][1000 genomes]
rs259042	1.00[CEU][hapmap];0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259043	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs259044	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259045	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259046	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259048	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259049	1.00[JPT][hapmap]
rs259051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259052	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs259053	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259054	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2599508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs28496723	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28555465	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3095851	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3096109	0.83[AFR][1000 genomes]
rs3096111	0.85[ASN][1000 genomes]
rs394076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs394170	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs399261	0.95[ASN][1000 genomes]
rs401612	1.00[ASN][1000 genomes]
rs408899	0.95[ASN][1000 genomes]
rs4704674	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6869519	0.92[EUR][1000 genomes]
rs6885891	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6887302	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6898411	1.00[CEU][hapmap]
rs701380	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs835726	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs835728	0.83[ASN][1000 genomes]
rs835729	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs856765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs856772	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs863163	0.95[ASN][1000 genomes]
rs969567	1.00[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:113 , 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	chr5:79738000-79761800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:79744800-79783200	Weak transcription	Colonic Mucosa	Colon
10	chr5:79751400-79762000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:79751600-79763600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr5:79751600-79763600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:79751800-79761400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:79751800-79761600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:79751800-79766400	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:79753000-79765000	Weak transcription	Psoas Muscle	Psoas
17	chr5:79753400-79769600	Weak transcription	HUVEC	blood vessel
18	chr5:79754600-79769600	Weak transcription	Osteobl	bone
19	chr5:79755400-79762200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:79755600-79768000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:79756000-79761200	ZNF genes & repeats	Dnd41	blood
22	chr5:79756400-79761800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:79757000-79761000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr5:79757000-79762000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:79757000-79770000	Weak transcription	NHDF-Ad	bronchial
26	chr5:79757200-79761000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:79757200-79763400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr5:79757400-79760600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr5:79757400-79760800	Strong transcription	Left Ventricle	heart
30	chr5:79757400-79762800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:79757400-79765000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:79757400-79769400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:79757800-79761200	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr5:79758000-79760600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr5:79758400-79761200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:79758400-79766400	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:79758600-79760600	ZNF genes & repeats	Primary T cells from cord blood	blood
38	chr5:79758600-79760600	ZNF genes & repeats	Brain Anterior Caudate	brain
39	chr5:79758600-79763400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr5:79758600-79766200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:79758800-79762800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:79758800-79765000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr5:79759200-79760800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
44	chr5:79759200-79761000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
45	chr5:79759200-79766000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr5:79759400-79760800	Weak transcription	Fetal Kidney	kidney
47	chr5:79759400-79761000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:79759400-79761000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:79759400-79761400	Weak transcription	Esophagus	oesophagus
50	chr5:79759400-79761400	Weak transcription	HSMMtube	muscle

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