Variant report

Variant	rs1861887
Chromosome Location	chr14:77789314-77789315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SRF	chr14:77788650-77789377	MCF-7	breast:	n/a	chr14:77788965-77788976 chr14:77788962-77788976 chr14:77788961-77788975 chr14:77788966-77788975 chr14:77788964-77788977 chr14:77788964-77788977 chr14:77788966-77788980 chr14:77788962-77788980
2	POLR2A	chr14:77789194-77789357	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:77788677-77789408	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77639702..77642054-chr14:77787547..77789346,2	MCF-7	breast:
2	chr14:77787369..77789536-chr14:77923983..77928279,4	K562	blood:
3	chr14:77787549..77790264-chr14:77928506..77931057,2	MCF-7	breast:
4	chr14:77785598..77789538-chr14:77924091..77927637,5	MCF-7	breast:
5	chr14:77646577..77649681-chr14:77786771..77790034,4	MCF-7	breast:
6	chr14:77786062..77789367-chr14:77922502..77925939,5	K562	blood:
7	chr14:77559718..77567556-chr14:77781210..77790475,16	MCF-7	breast:
8	chr14:77785522..77790160-chr14:77881086..77890187,11	MCF-7	breast:
9	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
10	chr14:77788050..77790932-chr19:12894264..12897215,2	MCF-7	breast:
11	chr14:77786039..77790135-chr14:77842733..77846742,6	MCF-7	breast:

Variant related genes	Relation type
GSTZ1	TF binding region
POMT2	TF binding region
ENSG00000100591	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000259164	Chromatin interaction
ENSG00000198894	Chromatin interaction
ENSG00000165548	Chromatin interaction
ENSG00000267212	Chromatin interaction
ENSG00000258552	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000100580	Chromatin interaction
ENSG00000268156	Chromatin interaction
ENSG00000165555	Chromatin interaction

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

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

rs_ID	r²[population]
rs10132619	0.90[ASN][1000 genomes]
rs1017186	0.90[ASN][1000 genomes]
rs1046428	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11850771	0.90[ASN][1000 genomes]
rs1468951	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1861888	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2160838	0.90[ASN][1000 genomes]
rs2160839	0.90[ASN][1000 genomes]
rs2363640	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759731	0.90[ASN][1000 genomes]
rs8014716	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9671248	0.90[ASN][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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902105	chr14:77764884-77801431	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv902106	chr14:77767978-77801431	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77788400-77789400	Enhancers	Small Intestine	intestine
2	chr14:77788400-77790800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:77788600-77789400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:77788600-77789400	Enhancers	Spleen	Spleen
5	chr14:77788600-77802800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:77788600-77806000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:77788600-77806200	Weak transcription	Thymus	Thymus
8	chr14:77788800-77789400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:77788800-77789400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:77788800-77789400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr14:77788800-77789400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr14:77788800-77789400	Enhancers	Brain Germinal Matrix	brain
13	chr14:77788800-77789600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr14:77788800-77790000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:77788800-77791000	Weak transcription	Fetal Stomach	stomach
16	chr14:77788800-77791400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:77788800-77804600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:77788800-77805200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:77788800-77806400	Weak transcription	Colonic Mucosa	Colon
20	chr14:77789000-77789400	Enhancers	Dnd41	blood
21	chr14:77789000-77789600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr14:77789000-77789600	Active TSS	Rectal Smooth Muscle	rectum
23	chr14:77789000-77790000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr14:77789000-77790000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:77789000-77790000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:77789000-77790000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr14:77789000-77790000	Weak transcription	Fetal Intestine Small	intestine
28	chr14:77789000-77790200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:77789000-77790200	Enhancers	Liver	Liver
30	chr14:77789000-77790800	Weak transcription	Placenta	Placenta
31	chr14:77789000-77791000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:77789000-77791800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:77789000-77792200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:77789000-77796000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:77789000-77804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:77789000-77805200	Weak transcription	Osteobl	bone
37	chr14:77789000-77805400	Weak transcription	Primary T cells from cord blood	blood
38	chr14:77789000-77805400	Weak transcription	A549	lung
39	chr14:77789000-77805600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:77789000-77805600	Weak transcription	Left Ventricle	heart
41	chr14:77789000-77805800	Weak transcription	Fetal Thymus	thymus
42	chr14:77789000-77806000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:77789000-77806000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:77789000-77806000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:77789000-77806000	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:77789000-77806200	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:77789000-77806200	Weak transcription	Lung	lung
48	chr14:77789000-77806400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:77789000-77807600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:77789200-77790000	Weak transcription	HepG2	liver

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