Variant report

Variant	rs73278374
Chromosome Location	chr14:68936771-68936772
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr14:68935948-68936794	HepG2	liver:	n/a	n/a
2	GATA3	chr14:68935067-68936798	MCF-7	breast:	n/a	chr14:68935449-68935459 chr14:68936432-68936453
3	STAT3	chr14:68936691-68937457	MCF10A-Er-Src	breast:	n/a	chr14:68937014-68937025 chr14:68937013-68937027 chr14:68936715-68936726 chr14:68936747-68936754 chr14:68937016-68937024

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68933689..68937829-chr14:68938571..68943232,4	K562	blood:
2	chr14:68868129..68871052-chr14:68933938..68936786,3	MCF-7	breast:
3	chr14:68932415..68937640-chr14:69040451..69046051,7	MCF-7	breast:
4	chr14:68744804..68746864-chr14:68934365..68937037,2	MCF-7	breast:
5	chr14:68713315..68714834-chr14:68935633..68937322,2	MCF-7	breast:
6	chr14:68748170..68751386-chr14:68933626..68937180,4	MCF-7	breast:
7	chr14:68855816..68857966-chr14:68934020..68936825,3	MCF-7	breast:
8	chr14:68933643..68938139-chr14:68984805..68987652,4	MCF-7	breast:
9	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
10	chr14:68934261..68937173-chr14:68974215..68976515,2	MCF-7	breast:
11	chr14:68935548..68937317-chr14:68938683..68940691,2	MCF-7	breast:
12	chr14:68924822..68938526-chr14:69257377..69265713,29	MCF-7	breast:
13	chr14:68935023..68937975-chr14:68980944..68983030,2	MCF-7	breast:
14	chr14:68934627..68937001-chr14:69034855..69037345,2	MCF-7	breast:
15	chr14:68934148..68937192-chr14:68979856..68982063,3	MCF-7	breast:
16	chr14:68935583..68937127-chr14:69124906..69126838,2	MCF-7	breast:
17	chr14:68926500..68929104-chr14:68935803..68938081,2	MCF-7	breast:
18	chr14:68934455..68938409-chr14:69031168..69034448,4	MCF-7	breast:
19	chr14:68603270..68607294-chr14:68934008..68937330,4	MCF-7	breast:
20	chr14:68934889..68936879-chr14:68948786..68950483,2	MCF-7	breast:
21	chr14:68931687..68934408-chr14:68934726..68938256,5	MCF-7	breast:

No data

Variant related genes	Relation type
RAD51B	TF binding region
ENSG00000182185	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17105456	1.00[AMR][1000 genomes]
rs17105630	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17105669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2107339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34574981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35474337	1.00[AMR][1000 genomes]
rs57806531	1.00[AMR][1000 genomes]
rs58650874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58925277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60012660	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60443209	1.00[AMR][1000 genomes]
rs61064711	1.00[AMR][1000 genomes]
rs73278308	1.00[AMR][1000 genomes]
rs73278318	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278333	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278338	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278340	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278350	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68922200-68937600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:68926200-68940000	Weak transcription	Ovary	ovary
3	chr14:68926800-68937600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:68927600-68943800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:68928400-68939400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:68928600-68949000	Weak transcription	Thymus	Thymus
7	chr14:68929000-68937200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:68929400-68938000	Enhancers	HMEC	breast
9	chr14:68932200-68950000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:68932800-68938000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr14:68933000-68946600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:68933400-68943000	Weak transcription	Right Atrium	heart
13	chr14:68933400-68943400	Weak transcription	Left Ventricle	heart
14	chr14:68933600-68937200	Enhancers	NHEK	skin
15	chr14:68933600-68937400	Enhancers	A549	lung
16	chr14:68933600-68937600	Weak transcription	Psoas Muscle	Psoas
17	chr14:68933600-68938000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:68933600-68938000	Weak transcription	Adipose Nuclei	Adipose
19	chr14:68933600-68939800	Weak transcription	Fetal Stomach	stomach
20	chr14:68933600-68942800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:68933600-68950600	Weak transcription	Aorta	Aorta
22	chr14:68933800-68936800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr14:68933800-68937000	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr14:68933800-68942600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:68934200-68946200	Enhancers	Primary B cells from peripheral blood	blood
26	chr14:68934400-68939800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:68934800-68937800	Enhancers	Fetal Intestine Small	intestine
28	chr14:68934800-68938000	Enhancers	Fetal Intestine Large	intestine
29	chr14:68934800-68940200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:68935000-68937600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr14:68935000-68937800	Enhancers	Osteobl	bone
32	chr14:68935000-68940400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:68935200-68937200	Enhancers	Brain Substantia Nigra	brain
34	chr14:68935200-68937200	Enhancers	HepG2	liver
35	chr14:68935200-68937800	Enhancers	GM12878-XiMat	blood
36	chr14:68935200-68940200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:68935200-68940200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr14:68935400-68937800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:68935400-68938600	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr14:68935400-68940200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:68935400-68940200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:68935400-68940200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr14:68935400-68940800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:68935400-68943400	Weak transcription	Fetal Thymus	thymus
45	chr14:68935600-68938600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr14:68935600-68938600	Weak transcription	Spleen	Spleen
47	chr14:68935600-68940200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr14:68935800-68936800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr14:68935800-68936800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:68935800-68936800	Weak transcription	Fetal Lung	lung

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