Variant report

Variant	rs2268983
Chromosome Location	chr14:69408697-69408698
allele	C/T
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69378032..69378943-chr14:69408257..69409090,4	MCF-7	breast:
2	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
3	chr14:69256868..69259474-chr14:69407183..69409516,2	MCF-7	breast:
4	chr14:69403151..69404894-chr14:69408526..69410384,2	K562	blood:
5	chr14:69408156..69410097-chr14:69416142..69418245,3	MCF-7	breast:
6	chr14:69408300..69408841-chr14:69468584..69469490,2	MCF-7	breast:
7	chr14:69403394..69405825-chr14:69407424..69410384,2	K562	blood:
8	chr14:69407443..69410998-chr14:69427616..69430586,3	MCF-7	breast:
9	chr14:69378059..69378995-chr14:69407806..69408712,3	MCF-7	breast:
10	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
11	chr14:69378410..69381040-chr14:69408422..69410281,2	K562	blood:
12	chr14:69390453..69396616-chr14:69408232..69413432,8	MCF-7	breast:
13	chr14:69398641..69402402-chr14:69406063..69410861,5	MCF-7	breast:
14	chr14:69404468..69406535-chr14:69406823..69410783,6	MCF-7	breast:
15	chr14:69402918..69410408-chr14:69410942..69415819,17	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction
ENSG00000259062	Chromatin interaction
ENSG00000258531	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1009145	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10141794	1.00[CHB][hapmap];0.80[GIH][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap];0.94[ASN][1000 genomes]
rs12588423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2268975	0.88[CHB][hapmap]
rs2268976	0.88[CHB][hapmap]
rs2268977	0.88[CHB][hapmap];0.80[CHD][hapmap]
rs2268982	1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.92[JPT][hapmap];0.82[TSI][hapmap];0.91[ASN][1000 genomes]
rs2268985	1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2268986	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2300876	0.93[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs2300878	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28574858	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3742897	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3784137	0.84[CHB][hapmap]
rs3784140	0.89[CHB][hapmap]
rs4902672	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.91[ASN][1000 genomes]
rs58747753	0.81[ASN][1000 genomes]
rs72733532	0.94[ASN][1000 genomes]
rs8010464	0.83[CHB][hapmap]
rs8010912	0.87[CHB][hapmap]
rs8011150	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv456333	chr14:69392445-69415962	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv564965	chr14:69392445-69415962	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Smoking behavior	19247474	GWAS catalog

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:69394200-69422200	Weak transcription	Dnd41	blood
3	chr14:69396200-69408800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:69396400-69409000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:69397800-69415200	Enhancers	Esophagus	oesophagus
6	chr14:69399000-69423200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr14:69400200-69416400	Enhancers	Pancreas	Pancrea
8	chr14:69400400-69417000	Enhancers	Fetal Muscle Leg	muscle
9	chr14:69400800-69420400	Enhancers	Fetal Lung	lung
10	chr14:69401800-69412400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr14:69402000-69426200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr14:69402200-69425200	Enhancers	Right Atrium	heart
13	chr14:69402400-69409000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr14:69402400-69409800	Enhancers	Lung	lung
15	chr14:69402400-69414400	Enhancers	Adipose Nuclei	Adipose
16	chr14:69402400-69416400	Enhancers	Left Ventricle	heart
17	chr14:69402400-69423600	Enhancers	Fetal Heart	heart
18	chr14:69402400-69427000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:69402600-69410800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:69402600-69416600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:69403600-69409400	Enhancers	Brain Hippocampus Middle	brain
22	chr14:69403600-69409600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:69403600-69420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:69403800-69411400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr14:69404200-69409800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:69404200-69410400	Flanking Active TSS	A549	lung
27	chr14:69404200-69412600	Enhancers	Fetal Muscle Trunk	muscle
28	chr14:69404200-69417000	Enhancers	Right Ventricle	heart
29	chr14:69404400-69411000	Enhancers	Placenta	Placenta
30	chr14:69404400-69411800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:69404600-69410800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:69404600-69412200	Weak transcription	K562	blood
33	chr14:69404800-69409000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:69404800-69409400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:69404800-69409600	Weak transcription	Thymus	Thymus
36	chr14:69405000-69415400	Weak transcription	Psoas Muscle	Psoas
37	chr14:69405200-69409000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:69405200-69412400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:69405400-69409200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr14:69405400-69410000	Enhancers	Stomach Mucosa	stomach
41	chr14:69405400-69412600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr14:69405400-69413600	Enhancers	Liver	Liver
43	chr14:69405600-69408800	Weak transcription	Fetal Thymus	thymus
44	chr14:69405600-69410000	Weak transcription	Brain Angular Gyrus	brain
45	chr14:69405800-69408800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:69405800-69409400	Weak transcription	Brain Germinal Matrix	brain
47	chr14:69405800-69412000	Weak transcription	Primary B cells from cord blood	blood
48	chr14:69405800-69412000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr14:69406000-69409800	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr14:69406000-69413000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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