Variant report

Variant	rs12077112
Chromosome Location	chr1:46144979-46144980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46139132..46142123-chr1:46143793..46146615,2	MCF-7	breast:
2	chr1:46141722..46144988-chr1:46150323..46153759,3	MCF-7	breast:
3	chr1:46123763..46125674-chr1:46143555..46145505,2	K562	blood:
4	chr1:46116859..46119732-chr1:46144618..46147111,2	K562	blood:

Variant related genes	Relation type
ENSG00000159596	Chromatin interaction
ENSG00000159592	Chromatin interaction
ENSG00000234329	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11211127	1.00[AMR][1000 genomes]
rs11211144	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211148	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211150	1.00[YRI][hapmap]
rs11211153	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211154	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211155	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211156	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11211167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12057167	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12063380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064908	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067882	1.00[AMR][1000 genomes]
rs12070146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070177	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073045	1.00[AMR][1000 genomes]
rs12073047	1.00[AMR][1000 genomes]
rs12080482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081121	1.00[AMR][1000 genomes]
rs12082672	1.00[AMR][1000 genomes]
rs12085372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12086880	1.00[AMR][1000 genomes]
rs12088810	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091335	1.00[AMR][1000 genomes]
rs12091360	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093444	1.00[AMR][1000 genomes]
rs12094011	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097914	1.00[AMR][1000 genomes]
rs16832550	1.00[AMR][1000 genomes]
rs16832553	1.00[AMR][1000 genomes]
rs16832557	1.00[AMR][1000 genomes]
rs1691225	1.00[AMR][1000 genomes]
rs1691226	1.00[AMR][1000 genomes]
rs1691227	1.00[AMR][1000 genomes]
rs1762087	1.00[AMR][1000 genomes]
rs2782489	1.00[AMR][1000 genomes]
rs28532613	1.00[AMR][1000 genomes]
rs28548585	1.00[AMR][1000 genomes]
rs28576912	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs28607905	1.00[AMR][1000 genomes]
rs35067820	1.00[AMR][1000 genomes]
rs35808563	1.00[AMR][1000 genomes]
rs486346	1.00[AMR][1000 genomes]
rs505175	1.00[AMR][1000 genomes]
rs506094	1.00[AMR][1000 genomes]
rs525706	1.00[AMR][1000 genomes]
rs622296	1.00[AMR][1000 genomes]
rs635446	1.00[AMR][1000 genomes]
rs665014	1.00[AMR][1000 genomes]
rs668289	1.00[AMR][1000 genomes]
rs6690210	1.00[YRI][hapmap]
rs669417	1.00[AMR][1000 genomes]
rs680267	1.00[AMR][1000 genomes]
rs7550744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
2	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
5	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv1010054	chr1:46144479-46320493	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	nsv1006861	chr1:46144479-46417621	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
9	nsv1003049	chr1:46144479-46476149	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46125000-46148400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:46125200-46151000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:46126000-46145000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:46126000-46147200	Weak transcription	Thymus	Thymus
5	chr1:46126000-46149000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:46126000-46151000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:46126200-46148600	Weak transcription	Fetal Stomach	stomach
8	chr1:46126400-46146600	Weak transcription	Fetal Kidney	kidney
9	chr1:46126400-46151000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:46126600-46150600	Weak transcription	Placenta	Placenta
11	chr1:46126800-46145000	Weak transcription	HMEC	breast
12	chr1:46126800-46147200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:46133800-46145000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:46134200-46151000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:46136000-46146400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:46136000-46150000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:46137400-46149200	Weak transcription	Esophagus	oesophagus
18	chr1:46140600-46145000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:46140600-46150200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:46140800-46148000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:46140800-46149800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:46140800-46149800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:46141200-46150200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:46141400-46145000	Weak transcription	Gastric	stomach
25	chr1:46142000-46145000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:46142200-46149000	Weak transcription	Right Ventricle	heart
27	chr1:46142400-46147200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:46142400-46150400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:46142600-46150000	Enhancers	Adipose Nuclei	Adipose
30	chr1:46142800-46147800	Enhancers	Brain Anterior Caudate	brain
31	chr1:46142800-46149400	Enhancers	Liver	Liver
32	chr1:46142800-46150800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:46143000-46145000	Enhancers	Brain Substantia Nigra	brain
34	chr1:46143000-46145000	Strong transcription	Dnd41	blood
35	chr1:46143000-46145400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:46143000-46145400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:46143000-46145400	Enhancers	Primary T cells from cord blood	blood
38	chr1:46143000-46145400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:46143000-46145400	Enhancers	HSMMtube	muscle
40	chr1:46143000-46145400	Enhancers	Osteobl	bone
41	chr1:46143000-46145600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:46143000-46145600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:46143000-46145600	Enhancers	Colon Smooth Muscle	Colon
44	chr1:46143000-46145600	Enhancers	Duodenum Mucosa	Duodenum
45	chr1:46143000-46145800	Enhancers	A549	lung
46	chr1:46143000-46146200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:46143000-46146200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr1:46143000-46146800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:46143000-46147400	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr1:46143000-46148600	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links