Variant report

Variant	rs72723899
Chromosome Location	chr14:70161153-70161154
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70158665..70161434-chr14:70169533..70173159,3	K562	blood:
2	chr14:70159393..70161509-chr14:70164413..70166965,3	MCF-7	breast:
3	chr14:70136105..70138906-chr14:70160635..70163194,2	K562	blood:
4	chr14:70101968..70105684-chr14:70161055..70164607,3	K562	blood:
5	chr14:70127448..70130324-chr14:70160379..70163129,3	K562	blood:
6	chr14:70127448..70130324-chr14:70160379..70163129,2	K562	blood:
7	chr14:70158843..70161207-chr14:70166333..70168210,2	MCF-7	breast:
8	chr14:70160859..70163841-chr14:70176614..70179491,2	K562	blood:
9	chr14:70110323..70113249-chr14:70160948..70165525,4	K562	blood:

No data

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10498530	0.86[EUR][1000 genomes]
rs11846784	0.83[EUR][1000 genomes]
rs12147464	0.82[EUR][1000 genomes]
rs1275825	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2184599	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902741	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902749	0.82[EUR][1000 genomes]
rs56399658	0.86[EUR][1000 genomes]
rs58697041	0.83[EUR][1000 genomes]
rs67737953	0.86[EUR][1000 genomes]
rs72723898	1.00[ASN][1000 genomes]
rs72723901	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72727904	1.00[ASN][1000 genomes]
rs867900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70155200-70161400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:70155200-70162000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:70155800-70161400	Weak transcription	HSMMtube	muscle
4	chr14:70156800-70164000	Enhancers	Fetal Muscle Leg	muscle
5	chr14:70157000-70162000	Enhancers	Brain Hippocampus Middle	brain
6	chr14:70157400-70161800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:70157400-70164000	Enhancers	Adipose Nuclei	Adipose
8	chr14:70157600-70165600	Enhancers	Fetal Heart	heart
9	chr14:70157800-70161600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:70157800-70164600	Enhancers	Psoas Muscle	Psoas
11	chr14:70158200-70165600	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr14:70158200-70166000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:70158400-70161400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:70158400-70165600	Enhancers	Small Intestine	intestine
15	chr14:70158400-70167000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:70158400-70170000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr14:70158600-70164600	Enhancers	Spleen	Spleen
18	chr14:70158800-70163200	Enhancers	Duodenum Mucosa	Duodenum
19	chr14:70158800-70163400	Enhancers	Primary B cells from peripheral blood	blood
20	chr14:70158800-70163400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:70158800-70163600	Enhancers	Liver	Liver
22	chr14:70158800-70164000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr14:70158800-70164000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:70158800-70164600	Enhancers	Brain Anterior Caudate	brain
25	chr14:70158800-70164600	Enhancers	Brain Cingulate Gyrus	brain
26	chr14:70158800-70164600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr14:70158800-70164600	Enhancers	Fetal Intestine Large	intestine
28	chr14:70158800-70164800	Enhancers	Fetal Intestine Small	intestine
29	chr14:70158800-70165600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr14:70159200-70164000	Enhancers	Brain Angular Gyrus	brain
31	chr14:70159200-70164200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr14:70159200-70164600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:70159200-70164600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr14:70159200-70165800	Enhancers	Left Ventricle	heart
35	chr14:70159400-70161200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr14:70159400-70162000	Enhancers	Brain Substantia Nigra	brain
37	chr14:70159400-70163000	Enhancers	Lung	lung
38	chr14:70159400-70163600	Enhancers	Right Atrium	heart
39	chr14:70159400-70164000	Enhancers	Colonic Mucosa	Colon
40	chr14:70159400-70164200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr14:70159400-70164200	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr14:70159400-70164200	Enhancers	Colon Smooth Muscle	Colon
43	chr14:70159400-70164200	Enhancers	Fetal Thymus	thymus
44	chr14:70159400-70164200	Enhancers	Ovary	ovary
45	chr14:70159400-70164600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr14:70159400-70165600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:70159400-70170200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:70159600-70161200	Enhancers	NHDF-Ad	bronchial
49	chr14:70159600-70161600	Enhancers	Fetal Kidney	kidney
50	chr14:70159600-70163400	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links