Variant report

Variant	rs3095851
Chromosome Location	chr5:79735232-79735233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr5:79735211-79735553	SH-SY5Y	brain:	n/a	chr5:79735284-79735293 chr5:79735537-79735549 chr5:79735535-79735551

Variant related genes	Relation type
ZFYVE16	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10052497	0.82[EUR][1000 genomes]
rs10433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10942926	1.00[ASN][1000 genomes]
rs1097307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1097308	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1097309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1102116	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1103116	0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13354660	1.00[JPT][hapmap]
rs1363775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1423113	0.82[ASN][1000 genomes]
rs168938	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs168939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168940	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs171595	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs171596	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs171821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs173597	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs173599	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs174075	1.00[CEU][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174076	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs1820119	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183654	0.80[AFR][1000 genomes]
rs185100	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs187478	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs187479	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs192313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs194540	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs194541	0.82[ASN][1000 genomes]
rs2112152	0.87[EUR][1000 genomes]
rs2251759	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs248995	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes]
rs248999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs249000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs249001	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs249004	0.95[ASN][1000 genomes]
rs249005	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249006	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs249016	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs249018	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs249020	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs249021	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]
rs249023	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs249024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249028	1.00[CEU][hapmap];1.00[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];1.00[ASN][1000 genomes]
rs249029	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249030	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs249031	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249032	0.95[ASN][1000 genomes]
rs249033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs249037	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249038	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs249039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249040	0.81[AFR][1000 genomes]
rs2544591	0.84[ASN][1000 genomes]
rs2544592	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2544593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2544598	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544599	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544600	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544603	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2544604	1.00[ASN][1000 genomes]
rs2547487	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2547497	0.85[EUR][1000 genomes]
rs259023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs259024	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs259025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259026	0.90[ASN][1000 genomes]
rs259027	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs259028	0.85[CHB][hapmap];1.00[ASN][1000 genomes]
rs259029	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs259030	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs259031	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259032	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs259033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259034	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259035	0.85[EUR][1000 genomes]
rs259036	0.82[ASN][1000 genomes]
rs259037	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs259038	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs259039	0.84[ASN][1000 genomes]
rs259040	0.84[ASN][1000 genomes]
rs259041	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259042	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs259043	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259044	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs259045	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs259046	0.84[ASN][1000 genomes]
rs259047	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs259048	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs259049	1.00[JPT][hapmap]
rs259051	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs259052	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs259053	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs259054	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs259055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2599508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3096111	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs394076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs394170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs399261	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs401612	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs408899	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4704674	1.00[ASN][1000 genomes]
rs557346	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6885891	0.82[ASN][1000 genomes]
rs6887302	1.00[JPT][hapmap]
rs701380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs835726	0.87[ASN][1000 genomes]
rs835728	0.83[ASN][1000 genomes]
rs835729	0.92[ASN][1000 genomes]
rs835731	0.83[EUR][1000 genomes]
rs856765	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs856772	0.95[ASN][1000 genomes]
rs863163	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs969567	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79704600-79758000	Weak transcription	Spleen	Spleen
2	chr5:79704600-79758600	Weak transcription	Gastric	stomach
3	chr5:79705600-79757400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:79707800-79735400	Weak transcription	Hela-S3	cervix
5	chr5:79708000-79738200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:79708000-79739200	Weak transcription	Right Ventricle	heart
7	chr5:79720400-79743200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr5:79722600-79765400	Weak transcription	Fetal Brain Male	brain
9	chr5:79724200-79757400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:79726800-79741800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:79728800-79739000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:79729800-79752800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:79730000-79737200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:79730000-79750600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:79730000-79756400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:79730000-79757000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:79730200-79736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:79730200-79739000	Weak transcription	Colonic Mucosa	Colon
19	chr5:79730200-79739000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:79730200-79750000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:79730200-79751800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr5:79730200-79761400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:79730200-79762200	Weak transcription	Stomach Mucosa	stomach
24	chr5:79730400-79735400	Strong transcription	Fetal Muscle Leg	muscle
25	chr5:79730400-79736600	Weak transcription	Psoas Muscle	Psoas
26	chr5:79730600-79736400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:79730600-79740600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:79730600-79757200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:79730600-79762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:79731200-79735400	Strong transcription	Primary T cells from cord blood	blood
31	chr5:79731200-79737400	Strong transcription	Placenta	Placenta
32	chr5:79731200-79749400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:79731400-79736200	Strong transcription	HepG2	liver
34	chr5:79731400-79748000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:79731400-79768000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:79731600-79741600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:79731600-79750000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr5:79731600-79758400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:79731800-79735600	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr5:79731800-79736200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:79731800-79736400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:79731800-79739200	Weak transcription	Fetal Intestine Small	intestine
43	chr5:79731800-79747000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:79732000-79738400	Strong transcription	HUVEC	blood vessel
45	chr5:79732200-79738000	Weak transcription	Fetal Stomach	stomach
46	chr5:79732200-79738000	Weak transcription	Fetal Thymus	thymus
47	chr5:79732200-79739000	Weak transcription	Lung	lung
48	chr5:79732200-79739200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:79732200-79739200	Weak transcription	Aorta	Aorta
50	chr5:79732200-79739200	Weak transcription	Thymus	Thymus

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