Variant report

Variant	rs4673386
Chromosome Location	chr2:209138121-209138122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209130991..209132638-chr2:209137435..209139595,2	MCF-7	breast:
2	chr2:209130296..209134891-chr2:209135687..209138671,7	K562	blood:
3	chr2:209135135..209138547-chr2:209139841..209142667,3	MCF-7	breast:
4	chr2:209133235..209135451-chr2:209137716..209139373,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228380	Chromatin interaction
ENSG00000138413	Chromatin interaction
ENSG00000115020	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10171006	1.00[EUR][1000 genomes]
rs10175739	1.00[EUR][1000 genomes]
rs10186531	1.00[EUR][1000 genomes]
rs10197958	1.00[EUR][1000 genomes]
rs10201702	1.00[EUR][1000 genomes]
rs10208004	1.00[EUR][1000 genomes]
rs10210393	1.00[EUR][1000 genomes]
rs10804168	1.00[EUR][1000 genomes]
rs10932256	1.00[EUR][1000 genomes]
rs10932259	1.00[EUR][1000 genomes]
rs11677618	1.00[EUR][1000 genomes]
rs11691208	1.00[EUR][1000 genomes]
rs11695873	1.00[EUR][1000 genomes]
rs12185547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479282	1.00[EUR][1000 genomes]
rs12617521	1.00[EUR][1000 genomes]
rs12618837	1.00[EUR][1000 genomes]
rs12621871	1.00[EUR][1000 genomes]
rs12623816	1.00[EUR][1000 genomes]
rs12694105	1.00[EUR][1000 genomes]
rs12694109	1.00[EUR][1000 genomes]
rs13394932	0.86[AFR][1000 genomes]
rs1370370	1.00[EUR][1000 genomes]
rs1437414	1.00[EUR][1000 genomes]
rs1446320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465803	1.00[EUR][1000 genomes]
rs1465804	1.00[EUR][1000 genomes]
rs1529979	1.00[EUR][1000 genomes]
rs1561240	1.00[EUR][1000 genomes]
rs16840898	1.00[EUR][1000 genomes]
rs16840910	1.00[EUR][1000 genomes]
rs16840936	1.00[EUR][1000 genomes]
rs1838794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866044	1.00[EUR][1000 genomes]
rs1866045	1.00[EUR][1000 genomes]
rs2028146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2043720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118296	1.00[EUR][1000 genomes]
rs2118297	1.00[EUR][1000 genomes]
rs2304544	1.00[EUR][1000 genomes]
rs2363463	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2363468	1.00[EUR][1000 genomes]
rs2363469	1.00[EUR][1000 genomes]
rs2363579	1.00[EUR][1000 genomes]
rs2885785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2885786	1.00[EUR][1000 genomes]
rs35940089	1.00[ASN][1000 genomes]
rs4673385	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673388	0.96[AFR][1000 genomes]
rs4673390	1.00[EUR][1000 genomes]
rs4673395	1.00[EUR][1000 genomes]
rs4675745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675747	1.00[EUR][1000 genomes]
rs4675750	1.00[EUR][1000 genomes]
rs4675754	1.00[EUR][1000 genomes]
rs4675755	1.00[EUR][1000 genomes]
rs57553077	1.00[EUR][1000 genomes]
rs57797425	1.00[EUR][1000 genomes]
rs6435436	1.00[EUR][1000 genomes]
rs6435437	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435441	1.00[EUR][1000 genomes]
rs6435443	1.00[EUR][1000 genomes]
rs6435444	1.00[EUR][1000 genomes]
rs6435445	1.00[EUR][1000 genomes]
rs6435446	1.00[EUR][1000 genomes]
rs6435450	1.00[EUR][1000 genomes]
rs6705163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708926	1.00[EUR][1000 genomes]
rs6711933	1.00[EUR][1000 genomes]
rs6713477	1.00[EUR][1000 genomes]
rs6718402	1.00[EUR][1000 genomes]
rs6733607	1.00[EUR][1000 genomes]
rs6734963	1.00[EUR][1000 genomes]
rs6742461	1.00[EUR][1000 genomes]
rs6751982	1.00[EUR][1000 genomes]
rs6754478	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7564882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569723	1.00[EUR][1000 genomes]
rs7574324	1.00[EUR][1000 genomes]
rs7576852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580715	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581075	1.00[EUR][1000 genomes]
rs7605498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893253	1.00[EUR][1000 genomes]
rs893255	1.00[EUR][1000 genomes]
rs893256	1.00[EUR][1000 genomes]
rs9283521	1.00[EUR][1000 genomes]
rs934712	1.00[EUR][1000 genomes]
rs934714	1.00[EUR][1000 genomes]
rs959855	1.00[EUR][1000 genomes]
rs976247	1.00[EUR][1000 genomes]
rs994696	1.00[EUR][1000 genomes]
rs994697	1.00[EUR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209131800-209143200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:209132200-209138200	Weak transcription	HSMMtube	muscle
3	chr2:209132200-209144800	Weak transcription	Aorta	Aorta
4	chr2:209132600-209138200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:209132800-209138200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:209132800-209138200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:209132800-209138200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:209132800-209138200	Weak transcription	NHLF	lung
9	chr2:209132800-209138600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:209132800-209138600	Weak transcription	Fetal Brain Male	brain
11	chr2:209132800-209140800	Weak transcription	Fetal Kidney	kidney
12	chr2:209132800-209141000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:209132800-209141200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:209132800-209142200	Weak transcription	Colonic Mucosa	Colon
15	chr2:209132800-209145000	Weak transcription	Gastric	stomach
16	chr2:209132800-209145600	Weak transcription	Stomach Mucosa	stomach
17	chr2:209132800-209147600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:209133000-209138800	Weak transcription	Hela-S3	cervix
19	chr2:209133000-209138800	Weak transcription	NHEK	skin
20	chr2:209133000-209141400	Weak transcription	Fetal Heart	heart
21	chr2:209133200-209138200	Weak transcription	Fetal Lung	lung
22	chr2:209133200-209140800	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:209133200-209141000	Weak transcription	Brain Substantia Nigra	brain
24	chr2:209133600-209138200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:209133600-209138400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:209133600-209153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:209133800-209138200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:209133800-209141400	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:209134000-209142600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:209134200-209138200	Weak transcription	K562	blood
31	chr2:209134200-209140600	Weak transcription	Brain Angular Gyrus	brain
32	chr2:209134400-209138200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:209134400-209138200	Weak transcription	Lung	lung
34	chr2:209134400-209138200	Weak transcription	Right Ventricle	heart
35	chr2:209134400-209138200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:209134400-209138800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:209134400-209138800	Weak transcription	Small Intestine	intestine
38	chr2:209134400-209143200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:209134400-209143200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:209134600-209138200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:209134600-209138200	Weak transcription	Esophagus	oesophagus
42	chr2:209134600-209139000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:209134600-209140600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:209134600-209143200	Weak transcription	Psoas Muscle	Psoas
45	chr2:209134600-209149000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr2:209134800-209138200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:209134800-209138200	Weak transcription	Spleen	Spleen
48	chr2:209134800-209138800	Weak transcription	Ovary	ovary
49	chr2:209134800-209146200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:209135000-209143200	Strong transcription	Primary B cells from cord blood	blood

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