Variant report

Variant	rs67547219
Chromosome Location	chr14:56404451-56404452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10131814	0.94[EUR][1000 genomes]
rs10135946	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10140158	0.94[EUR][1000 genomes]
rs10151037	0.94[EUR][1000 genomes]
rs11623085	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11624430	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11624604	0.85[ASN][1000 genomes]
rs11624693	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624789	0.93[ASN][1000 genomes]
rs17090733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28401671	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28622335	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs944446	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1043948	chr14:56393578-56423793	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1048063	chr14:56401045-56428160	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1040791	chr14:56401927-56424831	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56393600-56405000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:56401200-56404800	Weak transcription	Esophagus	oesophagus
3	chr14:56402400-56405200	Enhancers	Fetal Intestine Small	intestine
4	chr14:56402600-56405000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:56402800-56404600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:56403400-56405400	Enhancers	Pancreas	Pancrea
7	chr14:56403400-56405600	Enhancers	Fetal Heart	heart
8	chr14:56403400-56405600	Enhancers	Fetal Muscle Leg	muscle
9	chr14:56403600-56404600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:56403600-56406000	Enhancers	Brain Germinal Matrix	brain
11	chr14:56403800-56404600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:56403800-56404600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:56404000-56404600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr14:56404000-56406000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:56404200-56404800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:56404200-56404800	Enhancers	Brain Anterior Caudate	brain
17	chr14:56404200-56404800	Enhancers	Duodenum Mucosa	Duodenum
18	chr14:56404200-56405200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:56404200-56405400	Enhancers	Brain Cingulate Gyrus	brain
20	chr14:56404200-56405400	Enhancers	Fetal Brain Male	brain
21	chr14:56404200-56405400	Enhancers	Gastric	stomach
22	chr14:56404200-56405600	Enhancers	Brain Substantia Nigra	brain
23	chr14:56404200-56405800	Enhancers	Brain Hippocampus Middle	brain
24	chr14:56404200-56406000	Enhancers	Fetal Brain Female	brain
25	chr14:56404200-56411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr14:56404400-56404600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:56404400-56404800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr14:56404400-56405200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:56404400-56405200	Enhancers	NHDF-Ad	bronchial
30	chr14:56404400-56405400	Enhancers	Brain Angular Gyrus	brain
31	chr14:56404400-56405600	Enhancers	HSMMtube	muscle
32	chr14:56404400-56405800	Enhancers	HMEC	breast
33	chr14:56404400-56406000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr14:56404400-56406000	Enhancers	Colon Smooth Muscle	Colon
35	chr14:56404400-56407000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links