Variant report

Variant	rs1230183
Chromosome Location	chr4:99960277-99960278
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99849107..99853067-chr4:99958393..99961916,5	K562	blood:
2	chr4:99850538..99853067-chr4:99958598..99961528,2	K562	blood:

Variant related genes	Relation type
ENSG00000151247	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000238449	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1230170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1230172	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1230173	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1230180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1230182	0.85[YRI][hapmap]
rs1230189	0.87[CEU][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes]
rs1230199	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1230201	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1230204	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1237656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2602892	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2851307	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99931600-99971400	Weak transcription	Aorta	Aorta
2	chr4:99932600-99969800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:99937600-99966200	Weak transcription	HUVEC	blood vessel
4	chr4:99942200-99969600	Weak transcription	Fetal Brain Female	brain
5	chr4:99943800-99966200	Weak transcription	Adipose Nuclei	Adipose
6	chr4:99944200-99966200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:99944200-99968800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:99944200-99969600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:99944200-99979000	Weak transcription	Colonic Mucosa	Colon
10	chr4:99944200-99979200	Weak transcription	Right Ventricle	heart
11	chr4:99944400-99965000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr4:99944400-99966400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:99944400-99967200	Weak transcription	Fetal Stomach	stomach
14	chr4:99944400-99971600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:99944400-99979200	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:99945000-99969600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:99946000-99976800	Weak transcription	Stomach Mucosa	stomach
18	chr4:99946200-99970000	Weak transcription	Brain Anterior Caudate	brain
19	chr4:99946200-99977000	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:99946400-99969000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:99946400-99969400	Weak transcription	Placenta	Placenta
22	chr4:99946400-99973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:99946400-99979000	Weak transcription	Esophagus	oesophagus
24	chr4:99946600-99964800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:99946600-99970000	Weak transcription	Hela-S3	cervix
26	chr4:99947000-99964800	Weak transcription	Left Ventricle	heart
27	chr4:99947000-99969600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr4:99947000-99969800	Weak transcription	Ovary	ovary
29	chr4:99947000-99979000	Weak transcription	Gastric	stomach
30	chr4:99947000-99979200	Weak transcription	Pancreas	Pancrea
31	chr4:99947400-99982600	Weak transcription	Psoas Muscle	Psoas
32	chr4:99949000-99964400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:99949000-99979000	Weak transcription	Small Intestine	intestine
34	chr4:99949200-99968400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:99949600-99969400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:99949600-99973200	Weak transcription	Fetal Kidney	kidney
37	chr4:99950800-99966000	Weak transcription	Osteobl	bone
38	chr4:99951400-99963600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:99951800-99963400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:99951800-99964600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:99953200-99962400	Weak transcription	HMEC	breast
42	chr4:99953400-99961800	Weak transcription	HepG2	liver
43	chr4:99953800-99969800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr4:99954000-99971600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:99954000-99999200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:99954600-99976600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:99954800-99977000	Weak transcription	Brain Substantia Nigra	brain
48	chr4:99955000-99969800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:99955400-99968600	Weak transcription	Fetal Heart	heart
50	chr4:99955400-99980800	Weak transcription	HSMMtube	muscle

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