Variant report

Variant	rs72625242
Chromosome Location	chr2:174102522-174102523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174102278..174104056-chr2:174104733..174106603,2	K562	blood:
2	chr2:174101444..174103185-chr2:174111831..174113518,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10169914	0.81[ASN][1000 genomes]
rs16861406	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16861417	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3739103	0.91[ASN][1000 genomes]
rs3754737	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754738	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3769150	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3769151	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3769152	0.97[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3769154	0.84[ASN][1000 genomes]
rs3820831	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3820832	0.93[ASN][1000 genomes]
rs41268713	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs72625241	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
2	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
3	chr2:174083600-174103400	Weak transcription	NHLF	lung
4	chr2:174083800-174119200	Weak transcription	HMEC	breast
5	chr2:174089600-174103000	Weak transcription	K562	blood
6	chr2:174092200-174109400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:174092800-174109200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:174093000-174102600	Weak transcription	Fetal Lung	lung
9	chr2:174093800-174106800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:174094800-174114600	Weak transcription	HUVEC	blood vessel
11	chr2:174095800-174102800	Strong transcription	Fetal Stomach	stomach
12	chr2:174096000-174128800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:174096200-174118200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:174096400-174107000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:174096400-174109200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:174096400-174112600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:174096600-174103400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:174096600-174104400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:174096600-174105600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr2:174096600-174110800	Weak transcription	Small Intestine	intestine
21	chr2:174096600-174128800	Weak transcription	Pancreas	Pancrea
22	chr2:174096600-174130800	Weak transcription	Gastric	stomach
23	chr2:174096800-174102800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:174096800-174108200	Weak transcription	Fetal Heart	heart
25	chr2:174096800-174108400	Strong transcription	Adipose Nuclei	Adipose
26	chr2:174097600-174106400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:174098000-174106800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:174098000-174109000	Weak transcription	Primary B cells from cord blood	blood
29	chr2:174098000-174128800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr2:174098000-174130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:174098200-174124000	Weak transcription	NH-A	brain
32	chr2:174098400-174104800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:174098400-174125600	Weak transcription	Right Ventricle	heart
34	chr2:174098600-174104600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:174098800-174103400	Weak transcription	GM12878-XiMat	blood
36	chr2:174098800-174106000	Weak transcription	Aorta	Aorta
37	chr2:174098800-174124000	Weak transcription	Dnd41	blood
38	chr2:174099000-174105600	Weak transcription	Fetal Thymus	thymus
39	chr2:174099000-174124000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:174099200-174102600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:174099400-174103200	Weak transcription	Osteobl	bone
42	chr2:174099400-174104200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:174099400-174123600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr2:174099600-174103000	Weak transcription	NHEK	skin
45	chr2:174099600-174104800	Weak transcription	Left Ventricle	heart
46	chr2:174099600-174106200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:174099600-174120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:174099600-174123400	Weak transcription	A549	lung
49	chr2:174099600-174134400	Weak transcription	Placenta	Placenta
50	chr2:174099800-174103400	Weak transcription	Colon Smooth Muscle	Colon

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