Variant report

Variant	rs7665517
Chromosome Location	chr4:76676464-76676465
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76670707..76672414-chr4:76675811..76678337,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10016782	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10028291	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10031616	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10033315	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10212995	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097112	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097113	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097122	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11728073	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730896	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932454	0.81[EUR][1000 genomes]
rs11938067	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11943497	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12505149	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13102733	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13110602	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133144	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13133472	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13134891	0.88[AMR][1000 genomes]
rs13145290	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13147276	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2047989	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2271472	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2869175	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2904018	0.84[ASN][1000 genomes]
rs3796481	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4446339	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4859404	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4859405	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4859406	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859408	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859409	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859549	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859552	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4859554	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4859555	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55664143	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62318556	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6531901	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6829993	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6843016	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6845147	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6846575	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6847333	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7655464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7661037	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs905954	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs987561	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1003516	chr4:76597112-76729576	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv537143	chr4:76597112-76729576	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76650800-76737800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:76652000-76696400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:76652400-76725000	Weak transcription	Hela-S3	cervix
4	chr4:76659800-76679000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:76668400-76698600	Weak transcription	Fetal Brain Male	brain
6	chr4:76671000-76689400	Weak transcription	Fetal Heart	heart
7	chr4:76671000-76739400	Weak transcription	Stomach Mucosa	stomach
8	chr4:76671600-76707800	Weak transcription	Right Ventricle	heart
9	chr4:76672000-76692200	Weak transcription	Colonic Mucosa	Colon
10	chr4:76673200-76677400	Strong transcription	Fetal Muscle Leg	muscle
11	chr4:76673400-76676800	Strong transcription	Fetal Intestine Large	intestine
12	chr4:76673400-76677000	Strong transcription	Osteobl	bone
13	chr4:76673600-76677000	Strong transcription	Fetal Muscle Trunk	muscle
14	chr4:76673600-76680200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:76674600-76677200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:76674600-76678000	Strong transcription	Fetal Stomach	stomach
17	chr4:76674600-76679800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:76674800-76715200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:76675000-76676800	Strong transcription	Small Intestine	intestine
20	chr4:76675000-76727400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:76675200-76676600	Strong transcription	Fetal Kidney	kidney
22	chr4:76675200-76676800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:76675200-76676800	Strong transcription	Ovary	ovary
24	chr4:76675200-76676800	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:76675200-76677000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:76675200-76677000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:76675200-76677000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:76675200-76677200	Strong transcription	Duodenum Mucosa	Duodenum
29	chr4:76675200-76677200	Strong transcription	Fetal Thymus	thymus
30	chr4:76675200-76677600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:76675200-76677600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:76675200-76677600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:76675200-76677600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr4:76675200-76677800	Strong transcription	Adipose Nuclei	Adipose
35	chr4:76675200-76678000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:76675200-76678800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:76675200-76680000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:76675200-76681200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:76675400-76676800	Strong transcription	Primary T cells from cord blood	blood
40	chr4:76675400-76676800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:76675400-76676800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:76675400-76676800	Strong transcription	HMEC	breast
43	chr4:76675400-76677000	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr4:76675400-76677000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr4:76675400-76677000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:76675400-76677000	Strong transcription	Left Ventricle	heart
47	chr4:76675400-76677200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:76675400-76677200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:76675400-76677400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr4:76675400-76677600	Strong transcription	H1 Cell Line	embryonic stem cell

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