Variant report

Variant	rs61381603
Chromosome Location	chr14:56089358-56089359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56087704..56089549-chr14:56953257..56955747,2	K562	blood:

Variant related genes	Relation type
ENSG00000070269	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10483644	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10483649	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12432344	0.84[EUR][1000 genomes]
rs12432588	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12432887	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12433592	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434624	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12434660	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12434799	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12435643	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12587700	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12587705	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12588185	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12589864	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12589867	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12590388	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12590936	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12882850	0.94[ASN][1000 genomes]
rs12885864	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12888809	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12891526	0.85[ASN][1000 genomes]
rs12895070	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12897227	0.95[ASN][1000 genomes]
rs17128610	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17128614	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17128655	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17128657	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17128677	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17128684	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17128690	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1951887	0.80[ASN][1000 genomes]
rs1951889	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1951890	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2093800	0.95[ASN][1000 genomes]
rs2252189	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2274076	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2274078	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2274079	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2341889	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28458791	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28703642	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34023572	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34111199	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34118806	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34184813	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34408323	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34548095	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34697059	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34706911	0.80[ASN][1000 genomes]
rs34709110	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34931260	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35047443	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35094494	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35420484	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35451981	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35531912	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35535838	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35560341	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35790844	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4457912	0.86[ASN][1000 genomes]
rs55760841	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56229542	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60233569	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6573051	0.89[ASN][1000 genomes]
rs68127620	0.91[ASN][1000 genomes]
rs7154548	0.95[ASN][1000 genomes]
rs7156566	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72719463	0.87[ASN][1000 genomes]
rs8003149	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8006443	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8007183	0.94[ASN][1000 genomes]
rs8008764	0.94[ASN][1000 genomes]
rs8011252	0.81[ASN][1000 genomes]
rs8015588	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv832804	chr14:56083850-56277632	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56077800-56092000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:56078600-56148600	Weak transcription	Stomach Mucosa	stomach
3	chr14:56078800-56095400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr14:56079000-56091000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:56079200-56095200	Strong transcription	Primary T cells from cord blood	blood
6	chr14:56079800-56111400	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr14:56080200-56097800	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr14:56080600-56091800	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr14:56080800-56110800	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr14:56081200-56090400	Strong transcription	Adipose Nuclei	Adipose
11	chr14:56081600-56090000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:56082200-56091000	Strong transcription	Placenta	Placenta
13	chr14:56082400-56090200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:56082400-56091800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:56082400-56092000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:56082600-56089600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:56082600-56091800	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr14:56082800-56090000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:56082800-56090200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:56082800-56090400	Strong transcription	Osteobl	bone
21	chr14:56082800-56090600	Strong transcription	NHEK	skin
22	chr14:56082800-56091800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:56083000-56091000	Strong transcription	HUVEC	blood vessel
24	chr14:56083200-56090000	Strong transcription	NH-A	brain
25	chr14:56084000-56091800	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr14:56085000-56091000	Strong transcription	Left Ventricle	heart
27	chr14:56085200-56090000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr14:56086000-56093400	Strong transcription	A549	lung
29	chr14:56086600-56092400	Weak transcription	HMEC	breast
30	chr14:56086800-56094400	Weak transcription	NHDF-Ad	bronchial
31	chr14:56087200-56091800	Strong transcription	Brain Angular Gyrus	brain
32	chr14:56087400-56089800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:56087400-56091000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:56087400-56091200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:56087400-56091600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:56087400-56091800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr14:56087400-56091800	Strong transcription	Fetal Muscle Leg	muscle
38	chr14:56087400-56092000	Strong transcription	Liver	Liver
39	chr14:56087400-56092000	Strong transcription	Fetal Intestine Large	intestine
40	chr14:56087400-56092000	Strong transcription	Fetal Stomach	stomach
41	chr14:56087400-56092800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:56087400-56093400	Weak transcription	K562	blood
43	chr14:56087400-56094400	Weak transcription	HepG2	liver
44	chr14:56087400-56094800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:56087400-56111800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr14:56087400-56112200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:56087400-56132200	Strong transcription	Dnd41	blood
48	chr14:56087600-56089600	Weak transcription	Colonic Mucosa	Colon
49	chr14:56087600-56089800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr14:56087600-56090000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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