Variant report

Variant	rs3930261
Chromosome Location	chr1:180966193-180966194
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180963870..180968771-chr1:181057635..181060736,4	MCF-7	breast:
2	chr1:180963560..180966520-chr1:181056468..181058442,2	K562	blood:
3	chr1:180961851..180967082-chr1:180990297..180993107,5	MCF-7	breast:
4	chr1:180966137..180967993-chr1:180968713..180970684,2	K562	blood:

Variant related genes	Relation type
ENSG00000135823	Chromatin interaction
ENSG00000162783	Chromatin interaction
ENSG00000272198	Chromatin interaction

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

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

rs_ID	r²[population]
rs10797664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10910850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073184	0.85[AMR][1000 genomes]
rs12411105	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35672928	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4545301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652549	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692913	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	esv3342865	chr1:180933678-181018012	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv3383831	chr1:180937224-181029755	Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr1:180933400-180974600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:180940400-180988400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:180943600-180972000	Weak transcription	Psoas Muscle	Psoas
4	chr1:180943600-180979800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:180944800-180970800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:180945400-180975000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:180945600-180974800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:180949800-180966200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:180950000-180966400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:180950000-180968200	Strong transcription	HMEC	breast
11	chr1:180951400-180966200	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr1:180951600-180966400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:180952000-180966200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:180952200-180974800	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:180956600-180973200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:180957600-180971000	Weak transcription	Fetal Brain Male	brain
17	chr1:180958000-180972000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:180958000-180972000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:180958000-180973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:180958400-180968400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:180959000-180975000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:180959200-180972800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:180959200-180990800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:180959400-180973200	Weak transcription	Aorta	Aorta
25	chr1:180959600-180971800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:180959600-180973000	Weak transcription	Small Intestine	intestine
27	chr1:180959800-180979800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:180960200-180972000	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:180960400-180969200	Weak transcription	Brain Germinal Matrix	brain
30	chr1:180960600-180972200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:180960600-180973400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:180960600-180985200	Weak transcription	Stomach Mucosa	stomach
33	chr1:180960800-180971000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:180960800-180971000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:180960800-180971800	Weak transcription	Right Ventricle	heart
36	chr1:180960800-180973200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:180960800-180979800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:180961000-180968000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:180961000-180970200	Weak transcription	NHEK	skin
40	chr1:180961000-180970600	Weak transcription	Fetal Stomach	stomach
41	chr1:180961000-180970800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:180961000-180971000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:180961000-180973000	Weak transcription	Spleen	Spleen
44	chr1:180961000-180973400	Weak transcription	Colonic Mucosa	Colon
45	chr1:180961400-180970600	Weak transcription	Lung	lung
46	chr1:180961400-180970800	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:180961400-180971000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:180961400-180979800	Weak transcription	NH-A	brain
49	chr1:180961600-180973000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:180962200-180970800	Weak transcription	Placenta Amnion	Placenta Amnion

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