Variant report

Variant	rs12084371
Chromosome Location	chr1:165735015-165735016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165734875..165737199-chr1:165810836..165813345,2	K562	blood:
2	chr1:165733730..165736417-chr1:165798667..165800425,2	K562	blood:
3	chr1:165734862..165736387-chr1:165795496..165797680,2	K562	blood:
4	chr1:165730442..165735280-chr1:165736024..165740207,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224358	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10918257	1.00[AMR][1000 genomes]
rs10918269	1.00[AMR][1000 genomes]
rs10918273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10918275	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10918277	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs12059327	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060158	1.00[AMR][1000 genomes]
rs12063717	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12071265	1.00[AMR][1000 genomes]
rs12077653	1.00[AMR][1000 genomes]
rs12092685	1.00[AMR][1000 genomes]
rs12094264	1.00[AMR][1000 genomes]
rs12095440	0.93[YRI][hapmap];0.97[AFR][1000 genomes]
rs12095969	0.81[YRI][hapmap]
rs12096363	1.00[AMR][1000 genomes]
rs12097756	1.00[AMR][1000 genomes]
rs16849835	1.00[AMR][1000 genomes]
rs16850119	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16850284	0.86[YRI][hapmap]
rs41510944	1.00[AMR][1000 genomes]
rs60361398	1.00[AMR][1000 genomes]
rs6683657	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6703094	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73016649	1.00[AMR][1000 genomes]
rs73016655	1.00[AMR][1000 genomes]
rs73016661	1.00[AMR][1000 genomes]
rs73016667	1.00[AMR][1000 genomes]
rs73018505	1.00[AMR][1000 genomes]
rs7522083	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7525496	1.00[AMR][1000 genomes]

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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv518886	chr1:165714187-165741646	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:165711200-165736200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:165712200-165737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:165712600-165737000	Weak transcription	Colonic Mucosa	Colon
6	chr1:165713600-165737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:165721800-165735200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:165721800-165736600	Weak transcription	Stomach Mucosa	stomach
9	chr1:165721800-165737000	Weak transcription	Fetal Brain Male	brain
10	chr1:165721800-165737000	Weak transcription	Fetal Heart	heart
11	chr1:165721800-165737000	Weak transcription	Right Atrium	heart
12	chr1:165721800-165737200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:165721800-165737600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:165722600-165736800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:165723000-165736800	Weak transcription	Spleen	Spleen
16	chr1:165723200-165736800	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:165723600-165735600	Weak transcription	Brain Germinal Matrix	brain
18	chr1:165726400-165736800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:165726800-165736800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr1:165726800-165737000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:165727000-165736800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:165727800-165735400	Weak transcription	Right Ventricle	heart
23	chr1:165727800-165737000	Weak transcription	Psoas Muscle	Psoas
24	chr1:165727800-165737600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:165729200-165737200	Weak transcription	Brain Substantia Nigra	brain
26	chr1:165730200-165736800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:165730200-165736800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:165730200-165736800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:165730400-165736600	Strong transcription	HSMM	muscle
30	chr1:165730400-165736800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:165730400-165736800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:165730600-165736600	Strong transcription	Hela-S3	cervix
33	chr1:165731200-165736800	Weak transcription	Gastric	stomach
34	chr1:165732200-165735200	Genic enhancers	Dnd41	blood
35	chr1:165732200-165736600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
36	chr1:165732200-165736800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:165732200-165736800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr1:165732200-165736800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:165732200-165737000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:165732200-165737000	Strong transcription	Fetal Thymus	thymus
41	chr1:165732600-165736800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:165732600-165736800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:165732600-165737000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
44	chr1:165732600-165737200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr1:165732800-165735200	Genic enhancers	K562	blood
46	chr1:165732800-165735600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:165732800-165735800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr1:165732800-165736200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr1:165732800-165736400	Strong transcription	Thymus	Thymus
50	chr1:165732800-165736600	Strong transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links