Variant report

Variant	rs72751867
Chromosome Location	chr5:52907590-52907591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10036010	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1593053	0.87[ASN][1000 genomes]
rs28515477	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708487	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28736800	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35204933	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56129546	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748120	0.82[ASN][1000 genomes]
rs72748124	0.82[ASN][1000 genomes]
rs72748126	0.87[ASN][1000 genomes]
rs72748128	0.87[ASN][1000 genomes]
rs72748131	0.87[ASN][1000 genomes]
rs72750104	0.87[ASN][1000 genomes]
rs72750115	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750116	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750118	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750119	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750120	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750121	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750122	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750123	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750126	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750127	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750130	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750131	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750134	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750140	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750144	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750148	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751827	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751841	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751844	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751846	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751847	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751863	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72751871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753639	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753641	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753648	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753652	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753656	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753660	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753662	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72753664	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72753670	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72753671	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72753677	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72753682	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72753684	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72753688	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72753689	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72753691	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72755368	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72755378	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72755379	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72755392	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs72755393	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72757303	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72757306	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72757373	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72757381	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72757382	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72757387	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72757388	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72757396	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv880689	chr5:52847995-53002783	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv881348	chr5:52885100-52942083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv881237	chr5:52885100-52944428	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv880426	chr5:52885100-52953048	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv881604	chr5:52885100-53035301	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv880762	chr5:52894276-52944428	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv4828	chr5:52895470-52940279	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52860000-52909000	Weak transcription	Small Intestine	intestine
2	chr5:52888800-52908200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:52889800-52920800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:52890000-52912400	Weak transcription	K562	blood
5	chr5:52890200-52920000	Weak transcription	HepG2	liver
6	chr5:52899200-52908400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:52899200-52908400	Weak transcription	HMEC	breast
8	chr5:52899200-52910200	Weak transcription	Brain Germinal Matrix	brain
9	chr5:52899400-52908200	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:52899400-52908200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:52899400-52908400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:52899400-52908400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:52899400-52928400	Weak transcription	Fetal Heart	heart
14	chr5:52900800-52908600	Weak transcription	A549	lung
15	chr5:52900800-52909000	Weak transcription	Esophagus	oesophagus
16	chr5:52900800-52910200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr5:52900800-52911800	Weak transcription	Brain Substantia Nigra	brain
18	chr5:52900800-52936600	Weak transcription	NHEK	skin
19	chr5:52901000-52932600	Weak transcription	Aorta	Aorta
20	chr5:52901400-52920600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:52901600-52918000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:52901600-52919600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr5:52901800-52927000	Weak transcription	Pancreas	Pancrea
24	chr5:52902400-52907800	Weak transcription	Fetal Thymus	thymus
25	chr5:52902600-52909000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:52902600-52919600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr5:52902600-52920800	Weak transcription	Fetal Intestine Small	intestine
28	chr5:52902600-52927000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:52902800-52908400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr5:52902800-52918800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:52902800-52920800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:52902800-52926400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:52903000-52908400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:52903000-52927000	Weak transcription	Left Ventricle	heart
35	chr5:52903000-52943800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr5:52903200-52909200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:52903200-52910400	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:52903200-52918200	Weak transcription	Liver	Liver
39	chr5:52903200-52918400	Weak transcription	Primary B cells from cord blood	blood
40	chr5:52903200-52918800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:52903200-52919800	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:52903200-52920800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:52903200-52926800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:52903200-52939200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:52903400-52910200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr5:52903600-52909000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr5:52903600-52926800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr5:52904200-52936800	Weak transcription	NHDF-Ad	bronchial
49	chr5:52904400-52908200	Weak transcription	Fetal Lung	lung
50	chr5:52904400-52908800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links