Variant report

Variant	rs4605652
Chromosome Location	chr4:7863338-7863339
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7857940..7860738-chr4:7861450..7863442,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs28379782	0.93[ASN][1000 genomes]
rs28393652	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28418478	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28451112	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28468456	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28508479	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28612887	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28621561	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28638094	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28649910	0.88[EUR][1000 genomes]
rs28657375	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28657625	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28662492	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28728216	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28861809	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4377592	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4383619	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4388087	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4404542	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4413405	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4473655	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4496581	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4496582	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4552460	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4623000	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6838291	0.80[AMR][1000 genomes]
rs7376416	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7848000-7872200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7852600-7873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:7855200-7863400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:7856200-7872800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:7856400-7865600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:7856400-7865800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:7857200-7864800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:7857600-7873000	Weak transcription	Colonic Mucosa	Colon
9	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
10	chr4:7859000-7865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr4:7859400-7863600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:7859400-7865600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:7859400-7865600	Genic enhancers	Osteobl	bone
14	chr4:7859600-7869000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:7859600-7869400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:7859800-7865600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr4:7859800-7865600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:7859800-7865600	Weak transcription	Brain Angular Gyrus	brain
19	chr4:7859800-7865600	Weak transcription	Stomach Mucosa	stomach
20	chr4:7859800-7872600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:7860000-7864800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:7860000-7864800	Genic enhancers	HSMMtube	muscle
23	chr4:7860000-7865600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:7860000-7865600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr4:7860200-7867600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:7860400-7865600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:7860400-7870200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr4:7860600-7865600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:7860800-7863400	Weak transcription	Fetal Heart	heart
30	chr4:7860800-7865600	Weak transcription	Gastric	stomach
31	chr4:7860800-7865600	Weak transcription	Lung	lung
32	chr4:7860800-7865600	Weak transcription	Pancreas	Pancrea
33	chr4:7860800-7869000	Weak transcription	Aorta	Aorta
34	chr4:7860800-7872800	Weak transcription	Right Ventricle	heart
35	chr4:7861200-7872800	Weak transcription	Psoas Muscle	Psoas
36	chr4:7861400-7863800	Genic enhancers	Fetal Muscle Leg	muscle
37	chr4:7861400-7865600	Weak transcription	HepG2	liver
38	chr4:7861600-7863400	Strong transcription	Fetal Intestine Small	intestine
39	chr4:7861800-7863400	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr4:7862000-7863800	Enhancers	Fetal Brain Female	brain
41	chr4:7862000-7865200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:7862000-7865600	Genic enhancers	HSMM	muscle
43	chr4:7862200-7863600	Enhancers	Placenta	Placenta
44	chr4:7862200-7863600	Genic enhancers	Fetal Stomach	stomach
45	chr4:7862200-7863600	Enhancers	Rectal Smooth Muscle	rectum
46	chr4:7862200-7863800	Enhancers	Colon Smooth Muscle	Colon
47	chr4:7862200-7863800	Strong transcription	Fetal Intestine Large	intestine
48	chr4:7862200-7863800	Enhancers	Placenta Amnion	Placenta Amnion
49	chr4:7862200-7864000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:7862200-7865000	Enhancers	H1 Cell Line	embryonic stem cell

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