Variant report

Variant	rs11046048
Chromosome Location	chr12:21592200-21592201
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:21569338..21572113-chr12:21589171..21592854,4	K562	blood:
2	chr12:21569338..21572113-chr12:21589171..21592483,4	K562	blood:
3	chr12:21591250..21594769-chr12:21604296..21607496,3	K562	blood:
4	chr12:21590977..21592503-chr12:21654111..21656929,2	K562	blood:

Variant related genes	Relation type
ENSG00000111711	Chromatin interaction
ENSG00000004700	Chromatin interaction
ENSG00000084453	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10841812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10841813	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10841814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10841818	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10841820	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs10841823	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10841830	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs11046043	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11046046	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11046061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11046066	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11046068	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046072	0.86[ASN][1000 genomes]
rs11046075	0.87[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12371829	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13266	0.87[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs17849408	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2192175	0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs28886017	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809207	0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs6500	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7309377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964152	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898895	chr12:21561645-21621891	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	nsv898896	chr12:21561645-21695584	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv469163	chr12:21579080-21592357	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	nsv557742	chr12:21579080-21592357	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21590000-21592200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:21590000-21592200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:21590000-21592200	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr12:21590000-21592200	Active TSS	NH-A	brain
5	chr12:21590000-21592200	Active TSS	NHLF	lung
6	chr12:21590000-21592400	Active TSS	Stomach Smooth Muscle	stomach
7	chr12:21590000-21592800	Active TSS	GM12878-XiMat	blood
8	chr12:21591200-21592200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:21591200-21592200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr12:21591200-21592600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr12:21591200-21593000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr12:21591400-21592200	Enhancers	Brain Substantia Nigra	brain
13	chr12:21591400-21592600	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr12:21591400-21592600	Flanking Active TSS	Dnd41	blood
15	chr12:21591400-21594800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:21591400-21594800	Weak transcription	Esophagus	oesophagus
17	chr12:21591400-21594800	Weak transcription	Gastric	stomach
18	chr12:21591400-21594800	Weak transcription	Left Ventricle	heart
19	chr12:21591400-21594800	Weak transcription	Lung	lung
20	chr12:21591400-21594800	Weak transcription	Spleen	Spleen
21	chr12:21591400-21595400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:21591400-21602800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:21591600-21592200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:21591600-21592200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:21591600-21592200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr12:21591600-21592200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:21591600-21592200	Flanking Active TSS	A549	lung
28	chr12:21591600-21592200	Flanking Active TSS	NHDF-Ad	bronchial
29	chr12:21591600-21592600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:21591600-21592600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr12:21591600-21592600	Enhancers	Small Intestine	intestine
32	chr12:21591600-21592800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr12:21591600-21592800	Enhancers	Primary B cells from peripheral blood	blood
34	chr12:21591600-21592800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr12:21591600-21594000	Weak transcription	Fetal Intestine Large	intestine
36	chr12:21591600-21594200	Weak transcription	Fetal Stomach	stomach
37	chr12:21591600-21594400	Weak transcription	Placenta	Placenta
38	chr12:21591600-21594600	Weak transcription	Brain Anterior Caudate	brain
39	chr12:21591600-21594600	Weak transcription	Ovary	ovary
40	chr12:21591600-21594800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:21591600-21594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:21591600-21594800	Weak transcription	Aorta	Aorta
43	chr12:21591600-21594800	Weak transcription	Brain Germinal Matrix	brain
44	chr12:21591600-21594800	Weak transcription	Colonic Mucosa	Colon
45	chr12:21591600-21594800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:21591600-21594800	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:21591600-21594800	Weak transcription	Pancreas	Pancrea
48	chr12:21591600-21598600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:21591600-21599600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:21591600-21609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links