Variant report

Variant	rs10143111
Chromosome Location	chr14:69442122-69442123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:69441718-69446518	HepG2	liver:	n/a	n/a
2	MXI1	chr14:69441660-69447416	IMR90	lung:	n/a	n/a
3	CHD1	chr14:69441180-69450261	IMR90	lung:	n/a	chr14:69446695-69446705
4	POLR2A	chr14:69441293-69442157	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr14:69441592-69445621	HUVEC	blood vessel:	n/a	n/a
6	MXI1	chr14:69442097-69447256	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr14:69441290-69449923	IMR90	lung:	n/a	n/a
8	POLR2A	chr14:69441164-69443163	U87	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
2	chr14:69441561..69443821-chr6:122931001..122932824,2	MCF-7	breast:
3	chr14:69441449..69443783-chr14:69546294..69548091,2	K562	blood:
4	chr14:69441719..69443220-chr14:69520758..69522938,2	MCF-7	breast:
5	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:

No data

Variant related genes	Relation type
ACTN1-AS1	TF binding region
ENSG00000258531	Chromatin interaction
ENSG00000135549	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10132665	1.00[AMR][1000 genomes]
rs10136609	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1983700	0.84[ASN][1000 genomes]
rs28396849	0.94[AFR][1000 genomes]
rs28561965	0.89[AFR][1000 genomes]
rs8009158	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
2	chr14:69421200-69442200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:69428400-69442200	Genic enhancers	Fetal Stomach	stomach
4	chr14:69428600-69443400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:69429400-69443800	Weak transcription	Brain Germinal Matrix	brain
6	chr14:69429800-69442400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:69431800-69444000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
8	chr14:69432000-69442400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:69432600-69442200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:69432600-69443000	Weak transcription	Brain Substantia Nigra	brain
11	chr14:69434400-69442400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:69436200-69442600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:69437000-69443000	Weak transcription	Fetal Brain Male	brain
14	chr14:69437400-69442200	Genic enhancers	HUVEC	blood vessel
15	chr14:69437800-69443600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:69438200-69442400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:69438200-69442600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:69438200-69442600	Weak transcription	Fetal Kidney	kidney
19	chr14:69438200-69443200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:69438400-69442200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr14:69438400-69444400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:69438600-69443000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:69438800-69442800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr14:69438800-69443000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:69438800-69443400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr14:69438800-69444000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:69439000-69443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:69439200-69442200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr14:69439200-69444400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
30	chr14:69439400-69442800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:69439400-69442800	Genic enhancers	Fetal Intestine Large	intestine
32	chr14:69439400-69443400	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr14:69439800-69442200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:69440400-69442200	Genic enhancers	NHDF-Ad	bronchial
35	chr14:69440400-69442600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:69440400-69442800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:69440400-69443400	Transcr. at gene 5' and 3'	NHLF	lung
38	chr14:69440600-69443000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:69440600-69443400	Enhancers	Colonic Mucosa	Colon
40	chr14:69440600-69444000	Enhancers	Stomach Mucosa	stomach
41	chr14:69440600-69444400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:69440800-69442600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:69440800-69442800	Weak transcription	Placenta	Placenta
44	chr14:69440800-69443200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:69440800-69443600	Enhancers	Right Ventricle	heart
46	chr14:69441000-69442400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr14:69441000-69442400	Weak transcription	Thymus	Thymus
48	chr14:69441000-69442400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr14:69441000-69442600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:69441000-69443000	Weak transcription	Primary hematopoietic stem cells	blood

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