Variant report

Variant	rs67043078
Chromosome Location	chr2:180113796-180113797
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	chr2:180111560..180114126-chr2:180128041..180130307,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187231	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10164707	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10164814	0.80[ASN][1000 genomes]
rs10177122	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10177402	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181291	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10181464	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10182477	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185803	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194420	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10194534	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10196366	0.80[ASN][1000 genomes]
rs10204985	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209183	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209887	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10439300	0.84[AFR][1000 genomes]
rs10930859	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12105846	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12617002	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12621023	0.91[EUR][1000 genomes]
rs12621115	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12622075	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623243	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693179	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12693181	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12693183	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12987285	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs13020645	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13382185	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13384403	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392996	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13396340	0.84[EUR][1000 genomes]
rs13414296	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13417919	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2007593	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28838656	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57098667	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433770	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6731614	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6743412	0.88[ASN][1000 genomes]
rs6759983	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7569887	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7601366	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7608745	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs9288026	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv834472	chr2:180091670-180220448	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180089600-180115200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180091800-180127200	Weak transcription	Fetal Lung	lung
3	chr2:180098600-180118600	Weak transcription	Pancreas	Pancrea
4	chr2:180102800-180127800	Weak transcription	Psoas Muscle	Psoas
5	chr2:180103200-180116000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:180105600-180116000	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:180105600-180120000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:180106200-180116400	Weak transcription	Small Intestine	intestine
9	chr2:180107000-180115600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:180110000-180116800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:180110200-180124200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:180111200-180120400	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:180112200-180120000	Weak transcription	Fetal Kidney	kidney
14	chr2:180112400-180126200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:180112600-180115200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:180112600-180116400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:180112600-180117600	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:180112600-180118400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:180112600-180125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:180112600-180126800	Weak transcription	Hela-S3	cervix
21	chr2:180112800-180115000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:180112800-180115400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:180112800-180117200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:180113000-180114400	Weak transcription	Primary B cells from cord blood	blood
25	chr2:180113000-180114600	ZNF genes & repeats	GM12878-XiMat	blood
26	chr2:180113200-180116200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:180113400-180114400	Weak transcription	HepG2	liver
28	chr2:180113400-180114800	Weak transcription	Dnd41	blood
29	chr2:180113600-180113800	Enhancers	Adipose Nuclei	Adipose

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