Variant report

Variant	rs12100929
Chromosome Location	chr14:21159041-21159042
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:20795151..20796094-chr14:21158880..21159446,3	K562	blood:
2	chr14:21150440..21154332-chr14:21157662..21161578,5	MCF-7	breast:
3	chr14:21125428..21126451-chr14:21158890..21159757,5	MCF-7	breast:
4	chr14:21157431..21160219-chr14:21181531..21183156,2	MCF-7	breast:
5	chr14:21128311..21128853-chr14:21158987..21159697,3	MCF-7	breast:
6	chr14:21077148..21078593-chr14:21158533..21159955,16	MCF-7	breast:
7	chr14:21081028..21081861-chr14:21158910..21159604,2	MCF-7	breast:
8	chr14:21150737..21154554-chr14:21154913..21160550,6	K562	blood:
9	chr14:21130390..21131789-chr14:21158846..21159942,12	MCF-7	breast:
10	chr14:21077452..21078920-chr14:21158878..21160261,10	MCF-7	breast:
11	chr14:21125882..21126386-chr14:21158821..21159384,2	K562	blood:
12	chr14:21077218..21078236-chr14:21158811..21159842,10	K562	blood:
13	chr14:21125508..21126355-chr14:21158567..21159951,6	MCF-7	breast:
14	chr14:21082829..21085292-chr14:21158379..21160326,2	K562	blood:
15	chr14:21124292..21127460-chr14:21157851..21160627,4	MCF-7	breast:
16	chr14:21131048..21131858-chr14:21158923..21159647,5	MCF-7	breast:
17	chr14:21099127..21100989-chr14:21157446..21159704,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239327	Chromatin interaction
ENSG00000214274	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000258818	Chromatin interaction
ENSG00000259171	Chromatin interaction
ENSG00000173464	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12437235	0.84[CHB][hapmap]
rs17114699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17242776	0.84[ASN][1000 genomes]
rs58132820	0.81[ASN][1000 genomes]
rs7155352	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1203	chr14:21120868-21166077	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1045004	chr14:21124345-21180397	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv541975	chr14:21124345-21180397	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21153600-21161600	Weak transcription	Left Ventricle	heart
2	chr14:21153600-21169000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr14:21153600-21169600	Weak transcription	Esophagus	oesophagus
4	chr14:21153600-21169800	Weak transcription	Fetal Muscle Leg	muscle
5	chr14:21153800-21165800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:21153800-21165800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:21154400-21167200	Weak transcription	Aorta	Aorta
8	chr14:21154400-21168800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:21154600-21159200	Weak transcription	Brain Substantia Nigra	brain
10	chr14:21154600-21167600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:21154800-21161600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr14:21155000-21165200	Weak transcription	HUVEC	blood vessel
13	chr14:21155200-21161400	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr14:21155600-21161600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr14:21155600-21165600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:21155800-21161600	Weak transcription	Fetal Stomach	stomach
17	chr14:21155800-21161800	Weak transcription	Lung	lung
18	chr14:21155800-21167600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:21156200-21167200	Weak transcription	Gastric	stomach
20	chr14:21156200-21167400	Weak transcription	Colonic Mucosa	Colon
21	chr14:21156400-21161600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:21156400-21161600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:21156600-21161800	Weak transcription	Fetal Lung	lung
24	chr14:21156600-21161800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:21156800-21161600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:21156800-21161600	Weak transcription	Ovary	ovary
27	chr14:21157400-21167200	Weak transcription	Pancreas	Pancrea
28	chr14:21157600-21159600	Weak transcription	Fetal Intestine Small	intestine
29	chr14:21157600-21169800	Weak transcription	Fetal Intestine Large	intestine
30	chr14:21158200-21159800	Enhancers	Stomach Mucosa	stomach
31	chr14:21158400-21159200	Flanking Active TSS	Liver	Liver
32	chr14:21158400-21159800	Enhancers	Dnd41	blood
33	chr14:21158600-21159200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr14:21158800-21159800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:21159000-21159200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:21159000-21159200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr14:21159000-21159200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:21159000-21159200	Enhancers	Brain Angular Gyrus	brain
39	chr14:21159000-21159200	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr14:21159000-21159200	Enhancers	Rectal Smooth Muscle	rectum
41	chr14:21159000-21159200	Flanking Active TSS	A549	lung
42	chr14:21159000-21159200	Enhancers	GM12878-XiMat	blood
43	chr14:21159000-21159200	Flanking Active TSS	HSMMtube	muscle
44	chr14:21159000-21159400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr14:21159000-21159400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:21159000-21159400	Enhancers	Brain Cingulate Gyrus	brain
47	chr14:21159000-21159400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr14:21159000-21159400	Enhancers	Colon Smooth Muscle	Colon
49	chr14:21159000-21159400	Active TSS	Hela-S3	cervix
50	chr14:21159000-21159400	Transcr. at gene 5' and 3'	HepG2	liver

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