Variant report

Variant	rs4972540
Chromosome Location	chr2:174127820-174127821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:174127550..174130433-chr2:174828223..174830328,3	K562	blood:

Variant related genes	Relation type
ENSG00000172845	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13390766	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1822335	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35608243	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3769178	1.00[YRI][hapmap]
rs4972541	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
2	chr2:174096000-174128800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:174096600-174128800	Weak transcription	Pancreas	Pancrea
4	chr2:174096600-174130800	Weak transcription	Gastric	stomach
5	chr2:174098000-174128800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:174098000-174130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:174099600-174134400	Weak transcription	Placenta	Placenta
8	chr2:174101600-174136400	Weak transcription	Hela-S3	cervix
9	chr2:174101800-174136200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:174103800-174129000	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:174105000-174133400	Weak transcription	NHLF	lung
12	chr2:174105000-174134400	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:174106800-174128400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:174108200-174128600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:174111600-174129000	Weak transcription	Small Intestine	intestine
16	chr2:174113000-174130800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:174117600-174129400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:174117800-174129000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:174118000-174128600	Weak transcription	Aorta	Aorta
20	chr2:174118000-174130800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:174118000-174132400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:174118800-174128400	Weak transcription	Lung	lung
23	chr2:174119600-174129400	Weak transcription	Fetal Kidney	kidney
24	chr2:174120000-174128600	Weak transcription	HMEC	breast
25	chr2:174121600-174132800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:174121600-174133600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:174122200-174128600	Weak transcription	GM12878-XiMat	blood
28	chr2:174122600-174133200	Strong transcription	Adipose Nuclei	Adipose
29	chr2:174122600-174136400	Weak transcription	Stomach Mucosa	stomach
30	chr2:174123000-174129000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:174123400-174133000	Strong transcription	Liver	Liver
32	chr2:174123400-174133200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:174123400-174133400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:174123600-174128800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:174123800-174128800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:174123800-174129000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:174123800-174133000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr2:174123800-174136800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:174124200-174128600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:174124200-174128800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:174124400-174129000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:174124400-174129000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:174124400-174129200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:174124600-174128800	Weak transcription	A549	lung
45	chr2:174125000-174128600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:174125000-174128800	Weak transcription	Fetal Thymus	thymus
47	chr2:174125000-174129000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:174125200-174129200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr2:174125200-174133000	Weak transcription	NH-A	brain
50	chr2:174125400-174129000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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