Variant report

Variant	rs72729521
Chromosome Location	chr14:69023780-69023781
allele	A/T
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	chr14:69023246..69027101-chr14:69028219..69030991,3	MCF-7	breast:
3	chr14:69018839..69025167-chr14:69255576..69261923,8	MCF-7	breast:
4	chr14:68931650..68935082-chr14:69022199..69024459,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	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	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134240	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137367	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147979	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10148391	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483810	1.00[ASN][1000 genomes]
rs10483811	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11849344	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105810	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105812	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105828	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105829	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377700	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28454359	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28492919	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558877	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28671277	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59404246	1.00[ASN][1000 genomes]
rs6573841	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72727502	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016149	0.92[EUR][1000 genomes]
rs8017678	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323515	0.91[AMR][1000 genomes];0.92[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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69017400-69030400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:69017800-69028200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:69018200-69029600	Weak transcription	Fetal Intestine Small	intestine
4	chr14:69018600-69024600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr14:69018600-69024800	Weak transcription	Fetal Stomach	stomach
6	chr14:69018600-69026400	Weak transcription	Ovary	ovary
7	chr14:69018800-69024400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr14:69019000-69028200	Weak transcription	Fetal Lung	lung
9	chr14:69019200-69028200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:69019400-69028400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:69019800-69029800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr14:69020400-69028400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr14:69020400-69030000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr14:69021000-69023800	Enhancers	Fetal Muscle Trunk	muscle
15	chr14:69021000-69036200	Weak transcription	Brain Germinal Matrix	brain
16	chr14:69021200-69024400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:69021200-69024800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr14:69021200-69028400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:69021200-69028400	Weak transcription	Fetal Kidney	kidney
20	chr14:69021200-69028600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:69021400-69024400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:69021400-69030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:69021800-69025400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:69022000-69028600	Weak transcription	Thymus	Thymus
25	chr14:69022200-69024200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:69022200-69027600	Weak transcription	Primary T cells from cord blood	blood
27	chr14:69022200-69031400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:69022400-69024200	Weak transcription	Fetal Thymus	thymus
29	chr14:69022400-69024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:69022400-69025000	Weak transcription	Pancreas	Pancrea
31	chr14:69022400-69027600	Weak transcription	Placenta	Placenta
32	chr14:69022400-69028400	Weak transcription	Right Ventricle	heart
33	chr14:69022400-69028600	Weak transcription	Stomach Mucosa	stomach
34	chr14:69022400-69029800	Weak transcription	NH-A	brain
35	chr14:69022600-69024200	Weak transcription	HUVEC	blood vessel
36	chr14:69022600-69024800	Weak transcription	Liver	Liver
37	chr14:69022600-69028000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr14:69022600-69028200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:69022600-69028400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:69022600-69029400	Weak transcription	HMEC	breast
41	chr14:69022600-69032600	Weak transcription	NHDF-Ad	bronchial
42	chr14:69022800-69027600	Weak transcription	Colon Smooth Muscle	Colon
43	chr14:69022800-69028000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:69022800-69028000	Weak transcription	A549	lung
45	chr14:69022800-69028200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr14:69022800-69028200	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:69022800-69028200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr14:69022800-69029200	Weak transcription	NHEK	skin
49	chr14:69023000-69023800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:69023000-69025400	Enhancers	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links