Variant report

Variant	rs55864032
Chromosome Location	chr15:77122548-77122549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77118239..77119838-chr15:77122177..77123804,2	K562	blood:
2	chr15:77119804..77122749-chr15:77124403..77126200,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10444858	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1116535	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12148452	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12437733	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440835	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12441484	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591660	1.00[ASN][1000 genomes]
rs12593871	0.81[AMR][1000 genomes]
rs12594556	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12595313	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12595586	0.80[AMR][1000 genomes]
rs12904198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910293	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910382	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12910734	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911174	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12911902	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12911987	0.80[ASN][1000 genomes]
rs12913810	0.82[AMR][1000 genomes]
rs12916324	0.80[AMR][1000 genomes]
rs12916869	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1471780	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17367297	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2137307	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2304920	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2404602	0.85[ASN][1000 genomes]
rs2404733	0.80[ASN][1000 genomes]
rs3110382	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34049670	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34060246	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34181263	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34272342	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34639578	0.81[ASN][1000 genomes]
rs34707035	0.84[ASN][1000 genomes]
rs34924128	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35138393	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35170561	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35395069	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35498563	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35557205	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35561811	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35999717	0.80[AMR][1000 genomes]
rs36070630	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3816266	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4360890	0.80[AMR][1000 genomes]
rs4383105	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4442773	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4641709	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886503	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886824	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4886825	0.84[ASN][1000 genomes]
rs4886829	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55676827	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58361452	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58889902	0.80[AMR][1000 genomes]
rs58973160	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60658665	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60912217	0.82[ASN][1000 genomes]
rs66866130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67010831	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67570291	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71405223	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71405225	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7163397	0.80[AMR][1000 genomes]
rs7166156	0.80[AMR][1000 genomes]
rs7167613	0.85[ASN][1000 genomes]
rs7169663	0.80[AMR][1000 genomes]
rs7174096	0.90[ASN][1000 genomes]
rs7174673	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72738889	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7342603	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7350777	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7495566	0.85[AMR][1000 genomes]
rs8024476	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8028294	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8036703	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8037005	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8043474	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];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	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2830013	chr15:76863023-77176158	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1046137	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv542442	chr15:76892097-77196336	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs55864032	SCAPER	cis	Artery Tibial	GTEx
rs55864032	SCAPER	cis	Thyroid	GTEx
rs55864032	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs55864032	SCAPER	cis	lung	GTEx
rs55864032	SCAPER	cis	Nerve Tibial	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77073000-77125000	Weak transcription	Pancreas	Pancrea
2	chr15:77085400-77125000	Weak transcription	HSMM	muscle
3	chr15:77092800-77124800	Weak transcription	Ovary	ovary
4	chr15:77093200-77124800	Weak transcription	Primary B cells from cord blood	blood
5	chr15:77096600-77124800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr15:77101200-77124800	Weak transcription	Aorta	Aorta
7	chr15:77108000-77123600	Weak transcription	Psoas Muscle	Psoas
8	chr15:77108200-77123400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr15:77111600-77125200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr15:77111600-77141200	Weak transcription	Thymus	Thymus
11	chr15:77111600-77144000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr15:77111600-77174200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr15:77111800-77124800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:77111800-77141600	Weak transcription	Fetal Thymus	thymus
15	chr15:77112000-77123200	Weak transcription	Fetal Intestine Small	intestine
16	chr15:77112200-77124000	Weak transcription	Fetal Intestine Large	intestine
17	chr15:77112200-77196000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr15:77113600-77123200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:77113600-77123400	Weak transcription	Dnd41	blood
20	chr15:77113800-77124800	Weak transcription	Primary T cells from cord blood	blood
21	chr15:77113800-77124800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:77114000-77124800	Weak transcription	Fetal Stomach	stomach
23	chr15:77115400-77144600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:77116800-77123800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:77116800-77124800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:77116800-77125000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:77116800-77141400	Weak transcription	Lung	lung
28	chr15:77116800-77144000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr15:77119800-77124800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:77120400-77124800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr15:77120400-77132600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr15:77120400-77158400	Weak transcription	Colon Smooth Muscle	Colon
33	chr15:77120600-77129400	Weak transcription	Brain Substantia Nigra	brain
34	chr15:77120800-77143400	Weak transcription	Adipose Nuclei	Adipose
35	chr15:77121800-77123200	Enhancers	NHEK	skin
36	chr15:77122000-77122800	Enhancers	HMEC	breast
37	chr15:77122000-77123200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:77122000-77141600	Weak transcription	Gastric	stomach
39	chr15:77122200-77123000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links