Variant report

Variant	rs28492919
Chromosome Location	chr14:69022875-69022876
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr14:69018839..69025167-chr14:69255576..69261923,8	MCF-7	breast:
5	chr14:68931650..68935082-chr14:69022199..69024459,3	MCF-7	breast:
6	chr14:69021201..69023551-chr14:69053894..69056000,2	MCF-7	breast:
7	chr14:69022061..69023580-chr14:69250425..69252837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10130177	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134240	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137367	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147979	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148391	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483810	1.00[ASN][1000 genomes]
rs10483811	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849344	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105810	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105812	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105828	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105829	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377700	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454359	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28671277	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59404246	1.00[ASN][1000 genomes]
rs6573841	0.94[EUR][1000 genomes]
rs72727502	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729521	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016149	0.91[EUR][1000 genomes]
rs8017678	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323515	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];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	chr14:69015800-69023000	Weak transcription	Aorta	Aorta
3	chr14:69016000-69023000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:69017000-69023000	Weak transcription	Spleen	Spleen
5	chr14:69017400-69030400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:69017800-69028200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:69018200-69023600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:69018200-69029600	Weak transcription	Fetal Intestine Small	intestine
9	chr14:69018600-69024600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:69018600-69024800	Weak transcription	Fetal Stomach	stomach
11	chr14:69018600-69026400	Weak transcription	Ovary	ovary
12	chr14:69018800-69024400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:69019000-69028200	Weak transcription	Fetal Lung	lung
14	chr14:69019200-69028200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:69019400-69028400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:69019800-69029800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr14:69020000-69023000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr14:69020400-69028400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr14:69020400-69030000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr14:69020800-69023200	Enhancers	Esophagus	oesophagus
21	chr14:69020800-69023200	Enhancers	Lung	lung
22	chr14:69021000-69023800	Enhancers	Fetal Muscle Trunk	muscle
23	chr14:69021000-69036200	Weak transcription	Brain Germinal Matrix	brain
24	chr14:69021200-69024400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr14:69021200-69024800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:69021200-69028400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:69021200-69028400	Weak transcription	Fetal Kidney	kidney
28	chr14:69021200-69028600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr14:69021400-69023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:69021400-69024400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr14:69021400-69030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:69021800-69025400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr14:69022000-69028600	Weak transcription	Thymus	Thymus
34	chr14:69022200-69023200	Enhancers	HSMMtube	muscle
35	chr14:69022200-69024200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:69022200-69027600	Weak transcription	Primary T cells from cord blood	blood
37	chr14:69022200-69031400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:69022400-69023000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr14:69022400-69023200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr14:69022400-69024200	Weak transcription	Fetal Thymus	thymus
41	chr14:69022400-69024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:69022400-69025000	Weak transcription	Pancreas	Pancrea
43	chr14:69022400-69027600	Weak transcription	Placenta	Placenta
44	chr14:69022400-69028400	Weak transcription	Right Ventricle	heart
45	chr14:69022400-69028600	Weak transcription	Stomach Mucosa	stomach
46	chr14:69022400-69029800	Weak transcription	NH-A	brain
47	chr14:69022600-69023000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:69022600-69024200	Weak transcription	HUVEC	blood vessel
49	chr14:69022600-69024800	Weak transcription	Liver	Liver
50	chr14:69022600-69028000	Weak transcription	Placenta Amnion	Placenta Amnion

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