Variant report

Variant	rs61588486
Chromosome Location	chr4:22443456-22443457
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56029242	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56383378	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57310135	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59383860	1.00[EUR][1000 genomes]
rs6812519	1.00[EUR][1000 genomes]
rs73800932	1.00[EUR][1000 genomes]
rs73800934	1.00[EUR][1000 genomes]
rs73800935	1.00[EUR][1000 genomes]
rs73800940	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73800946	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73800949	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73800956	1.00[EUR][1000 genomes]
rs73800958	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73800959	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73800963	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73800964	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73802816	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73802817	1.00[EUR][1000 genomes]
rs73802819	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73802821	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73802824	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73802827	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73802829	1.00[EUR][1000 genomes]
rs73802830	1.00[EUR][1000 genomes]
rs73802831	1.00[EUR][1000 genomes]
rs7666836	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7666972	0.85[AFR][1000 genomes];1.00[EUR][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	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv878752	chr4:22414023-22501043	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22371600-22449800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:22386000-22446600	Weak transcription	Fetal Thymus	thymus
3	chr4:22388400-22473600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:22388800-22469600	Weak transcription	Colonic Mucosa	Colon
5	chr4:22389200-22473600	Weak transcription	Fetal Brain Male	brain
6	chr4:22390600-22456200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:22390600-22459800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:22393400-22444800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:22393600-22459800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:22393800-22446400	Weak transcription	NH-A	brain
11	chr4:22393800-22453000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:22400000-22448000	Weak transcription	Left Ventricle	heart
13	chr4:22400800-22449600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:22400800-22461800	Weak transcription	Gastric	stomach
15	chr4:22405400-22446000	Weak transcription	Pancreas	Pancrea
16	chr4:22412800-22446000	Weak transcription	Thymus	Thymus
17	chr4:22416800-22449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:22419200-22476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:22419400-22465800	Weak transcription	HUVEC	blood vessel
20	chr4:22420600-22488000	Weak transcription	Aorta	Aorta
21	chr4:22422000-22453400	Weak transcription	Esophagus	oesophagus
22	chr4:22424400-22457800	Weak transcription	Dnd41	blood
23	chr4:22424600-22448000	Weak transcription	Fetal Kidney	kidney
24	chr4:22426000-22461800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:22427400-22444400	Weak transcription	Primary T cells from cord blood	blood
26	chr4:22428600-22460600	Weak transcription	Placenta	Placenta
27	chr4:22429400-22457800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr4:22429600-22446600	Weak transcription	HSMMtube	muscle
29	chr4:22430600-22446200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:22430600-22456000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:22432400-22451400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr4:22432400-22460400	Weak transcription	Small Intestine	intestine
33	chr4:22433800-22479200	Weak transcription	Brain Hippocampus Middle	brain
34	chr4:22434000-22461200	Weak transcription	Brain Anterior Caudate	brain
35	chr4:22434800-22445800	Weak transcription	NHLF	lung
36	chr4:22434800-22456000	Weak transcription	Brain Substantia Nigra	brain
37	chr4:22436800-22456200	Weak transcription	NHEK	skin
38	chr4:22437400-22476400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:22437800-22446200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:22437800-22447800	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:22437800-22453400	Weak transcription	Fetal Heart	heart
42	chr4:22437800-22459600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:22437800-22465000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr4:22438200-22443800	Weak transcription	HepG2	liver
45	chr4:22438400-22448000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr4:22439200-22451800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:22439200-22458000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:22439600-22450600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:22439800-22446600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr4:22441600-22444800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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