Variant report

Variant	rs56026252
Chromosome Location	chr14:69022724-69022725
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:69014425..69017204-chr14:69022282..69023965,2	K562	blood:
2	chr14:69010762..69012583-chr14:69020438..69023361,2	MCF-7	breast:
3	chr14:68773930..68776459-chr14:69021069..69023168,2	MCF-7	breast:
4	chr14:68923760..68926395-chr14:69020012..69022778,2	MCF-7	breast:
5	chr14:69018839..69025167-chr14:69255576..69261923,8	MCF-7	breast:
6	chr14:68931650..68935082-chr14:69022199..69024459,3	MCF-7	breast:
7	chr14:69021201..69023551-chr14:69053894..69056000,2	MCF-7	breast:
8	chr14:69022061..69023580-chr14:69250425..69252837,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182185	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12100794	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105852	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17829021	1.00[EUR][1000 genomes]
rs2525506	1.00[ASN][1000 genomes]
rs4902602	1.00[ASN][1000 genomes]
rs55670604	1.00[ASN][1000 genomes]
rs55982127	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56054401	1.00[ASN][1000 genomes]
rs56147515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56239917	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985775	1.00[ASN][1000 genomes]
rs61985777	1.00[ASN][1000 genomes]
rs8012659	1.00[ASN][1000 genomes]
rs8017001	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv516239	chr14:69010690-69025870	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69009000-69023600	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69014400-69022800	Enhancers	Rectal Smooth Muscle	rectum
3	chr14:69015800-69022800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:69015800-69023000	Weak transcription	Aorta	Aorta
5	chr14:69016000-69022800	Enhancers	NHEK	skin
6	chr14:69016000-69023000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:69017000-69023000	Weak transcription	Spleen	Spleen
8	chr14:69017200-69022800	Enhancers	Colon Smooth Muscle	Colon
9	chr14:69017400-69030400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:69017800-69028200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:69018200-69022800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr14:69018200-69023600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:69018200-69029600	Weak transcription	Fetal Intestine Small	intestine
14	chr14:69018600-69024600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr14:69018600-69024800	Weak transcription	Fetal Stomach	stomach
16	chr14:69018600-69026400	Weak transcription	Ovary	ovary
17	chr14:69018800-69024400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:69019000-69028200	Weak transcription	Fetal Lung	lung
19	chr14:69019200-69028200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:69019400-69028400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:69019800-69029800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr14:69020000-69023000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:69020400-69028400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr14:69020400-69030000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr14:69020800-69022800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:69020800-69023200	Enhancers	Esophagus	oesophagus
27	chr14:69020800-69023200	Enhancers	Lung	lung
28	chr14:69021000-69023800	Enhancers	Fetal Muscle Trunk	muscle
29	chr14:69021000-69036200	Weak transcription	Brain Germinal Matrix	brain
30	chr14:69021200-69024400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr14:69021200-69024800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:69021200-69028400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:69021200-69028400	Weak transcription	Fetal Kidney	kidney
34	chr14:69021200-69028600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:69021400-69023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:69021400-69024400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:69021400-69030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:69021800-69025400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:69022000-69028600	Weak transcription	Thymus	Thymus
40	chr14:69022200-69022800	Enhancers	A549	lung
41	chr14:69022200-69023200	Enhancers	HSMMtube	muscle
42	chr14:69022200-69024200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:69022200-69027600	Weak transcription	Primary T cells from cord blood	blood
44	chr14:69022200-69031400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:69022400-69023000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr14:69022400-69023200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr14:69022400-69024200	Weak transcription	Fetal Thymus	thymus
48	chr14:69022400-69024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:69022400-69025000	Weak transcription	Pancreas	Pancrea
50	chr14:69022400-69027600	Weak transcription	Placenta	Placenta

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