Variant report

Variant	rs4704674
Chromosome Location	chr5:79731212-79731213
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10433	0.95[ASN][1000 genomes]
rs10474621	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10942926	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1097307	0.90[ASN][1000 genomes]
rs1097308	0.90[ASN][1000 genomes]
rs1097309	0.90[ASN][1000 genomes]
rs1102116	0.95[ASN][1000 genomes]
rs1103116	0.92[ASN][1000 genomes]
rs1104243	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13354660	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13359253	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1363775	1.00[ASN][1000 genomes]
rs1423113	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16877755	0.94[EUR][1000 genomes]
rs16877757	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs168938	0.90[ASN][1000 genomes]
rs168939	1.00[ASN][1000 genomes]
rs168940	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs171595	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs171596	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs171821	0.84[ASN][1000 genomes]
rs173597	0.95[ASN][1000 genomes]
rs173598	0.87[AFR][1000 genomes]
rs173599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174075	1.00[ASN][1000 genomes]
rs174076	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1820119	1.00[ASN][1000 genomes]
rs185100	0.97[ASN][1000 genomes]
rs187478	0.95[ASN][1000 genomes]
rs187479	0.95[ASN][1000 genomes]
rs192313	0.92[ASN][1000 genomes]
rs194540	0.88[ASN][1000 genomes]
rs194541	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2251759	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs248999	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249000	0.83[ASN][1000 genomes]
rs249001	0.95[ASN][1000 genomes]
rs249003	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs249004	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249005	0.95[ASN][1000 genomes]
rs249006	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249016	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs249020	0.88[ASN][1000 genomes]
rs249021	0.97[ASN][1000 genomes]
rs249023	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249024	1.00[ASN][1000 genomes]
rs249025	1.00[ASN][1000 genomes]
rs249026	1.00[ASN][1000 genomes]
rs249027	1.00[ASN][1000 genomes]
rs249028	1.00[ASN][1000 genomes]
rs249029	0.95[ASN][1000 genomes]
rs249030	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249031	0.95[ASN][1000 genomes]
rs249032	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs249037	0.95[ASN][1000 genomes]
rs249038	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs249039	1.00[ASN][1000 genomes]
rs2544591	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2544592	0.90[ASN][1000 genomes]
rs2544593	0.90[ASN][1000 genomes]
rs2544598	1.00[ASN][1000 genomes]
rs2544599	1.00[ASN][1000 genomes]
rs2544600	1.00[ASN][1000 genomes]
rs2544603	1.00[ASN][1000 genomes]
rs2544604	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2547487	0.90[ASN][1000 genomes]
rs259023	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259024	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259025	0.90[ASN][1000 genomes]
rs259026	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259027	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs259028	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259029	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs259030	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259031	1.00[ASN][1000 genomes]
rs259032	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs259033	1.00[ASN][1000 genomes]
rs259034	1.00[ASN][1000 genomes]
rs259036	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs259037	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs259038	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs259039	0.84[ASN][1000 genomes]
rs259040	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259041	0.84[ASN][1000 genomes]
rs259042	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259043	0.84[ASN][1000 genomes]
rs259044	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259045	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259046	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259047	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259048	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259051	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259052	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs259053	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259054	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs259055	0.90[ASN][1000 genomes]
rs2599508	0.95[ASN][1000 genomes]
rs28496723	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28555465	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3095851	1.00[ASN][1000 genomes]
rs3096109	0.85[AFR][1000 genomes]
rs3096111	0.85[ASN][1000 genomes]
rs394076	0.95[ASN][1000 genomes]
rs394170	0.95[ASN][1000 genomes]
rs399261	0.95[ASN][1000 genomes]
rs401612	1.00[ASN][1000 genomes]
rs408899	0.95[ASN][1000 genomes]
rs557346	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6869519	0.94[EUR][1000 genomes]
rs6885891	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6887302	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs701380	0.95[ASN][1000 genomes]
rs835726	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs835728	0.83[ASN][1000 genomes]
rs835729	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs856765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs856772	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[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: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:119 , 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	chr5:79704800-79731600	Weak transcription	Fetal Thymus	thymus
4	chr5:79705600-79757400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:79705800-79731400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:79705800-79731800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:79706000-79731400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr5:79706000-79731800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:79706000-79732000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:79706000-79732000	Weak transcription	NHLF	lung
11	chr5:79706200-79731600	Weak transcription	NHDF-Ad	bronchial
12	chr5:79707800-79731600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:79707800-79731800	Weak transcription	Brain Angular Gyrus	brain
14	chr5:79707800-79735400	Weak transcription	Hela-S3	cervix
15	chr5:79708000-79731400	Weak transcription	Adipose Nuclei	Adipose
16	chr5:79708000-79731400	Weak transcription	Left Ventricle	heart
17	chr5:79708000-79731400	Weak transcription	Ovary	ovary
18	chr5:79708000-79731800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:79708000-79738200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:79708000-79739200	Weak transcription	Right Ventricle	heart
21	chr5:79710400-79731800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:79710400-79732000	Weak transcription	A549	lung
23	chr5:79710600-79731400	Weak transcription	Primary B cells from cord blood	blood
24	chr5:79713400-79731400	Weak transcription	Brain Substantia Nigra	brain
25	chr5:79718200-79731800	Weak transcription	NH-A	brain
26	chr5:79720400-79743200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:79721000-79731400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:79721000-79731400	Weak transcription	HepG2	liver
29	chr5:79721800-79731600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr5:79722400-79733400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr5:79722600-79765400	Weak transcription	Fetal Brain Male	brain
32	chr5:79722800-79731800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:79722800-79732800	Weak transcription	Fetal Kidney	kidney
34	chr5:79724000-79731800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:79724200-79731400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:79724200-79731400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:79724200-79731400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:79724200-79731400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:79724200-79731600	Weak transcription	Brain Germinal Matrix	brain
40	chr5:79724200-79757400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:79724400-79731600	Weak transcription	Fetal Lung	lung
42	chr5:79725200-79732800	Weak transcription	HMEC	breast
43	chr5:79726800-79741800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:79727200-79731400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:79727800-79732000	Weak transcription	HUVEC	blood vessel
46	chr5:79728000-79731800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:79728000-79732800	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:79728400-79731800	Weak transcription	HSMM	muscle
49	chr5:79728600-79731400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:79728600-79732600	Weak transcription	Placenta Amnion	Placenta Amnion

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