Variant report

Variant	rs55670848
Chromosome Location	chr1:171697497-171697498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171696496..171698360-chr1:171698518..171700824,2	K562	blood:
2	chr1:171696346..171698512-chr1:171703920..171706655,2	K562	blood:
3	chr1:171696598..171698479-chr1:171750402..171753396,2	K562	blood:

Variant related genes	Relation type
ENSG00000010165	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1001373	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10489249	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10489251	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1052676	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10903	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913489	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10913490	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10913492	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10913511	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913514	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10913529	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913565	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10913582	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10913587	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11576221	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11577073	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11577197	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11577745	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11578179	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11578699	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11578723	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11579698	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11580415	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11580522	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11583920	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11590680	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11590714	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11799420	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11801846	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11803174	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11808099	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11811780	0.85[EUR][1000 genomes]
rs12119232	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12123727	0.83[EUR][1000 genomes]
rs12127026	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12128536	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12132221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs15655	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17649050	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17649068	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2298914	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2421911	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3766653	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58455759	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6656003	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6659874	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6667559	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6669263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6678890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6679354	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7528057	0.83[EUR][1000 genomes]
rs7536436	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7536543	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9661596	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9662174	0.81[EUR][1000 genomes]
rs9662853	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
5	esv1800458	chr1:171667663-171701129	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs55670848	VAMP4	Cis_1M	lymphoblastoid	RTeQTL
rs55670848	VAMP4	cis	multi-tissue	Pritchard

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171665600-171705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:171665600-171708800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:171666000-171705400	Weak transcription	Pancreas	Pancrea
4	chr1:171666800-171702400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:171668800-171705400	Weak transcription	Right Ventricle	heart
6	chr1:171668800-171708200	Weak transcription	Small Intestine	intestine
7	chr1:171669600-171705400	Weak transcription	Fetal Brain Male	brain
8	chr1:171677200-171698800	Weak transcription	Aorta	Aorta
9	chr1:171686000-171699000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:171686600-171710400	Weak transcription	Esophagus	oesophagus
11	chr1:171686600-171710400	Weak transcription	Gastric	stomach
12	chr1:171686800-171704600	Weak transcription	NHEK	skin
13	chr1:171687000-171704600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:171687600-171704600	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:171687600-171708000	Weak transcription	K562	blood
16	chr1:171688400-171698800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:171690800-171699000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:171692400-171705800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:171692400-171708400	Weak transcription	Brain Substantia Nigra	brain
20	chr1:171692400-171710400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:171692400-171710400	Weak transcription	Lung	lung
22	chr1:171692600-171699000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:171692600-171705000	Weak transcription	Thymus	Thymus
24	chr1:171692600-171705400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:171692600-171705600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:171692600-171708400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:171692600-171709800	Weak transcription	Stomach Mucosa	stomach
28	chr1:171692600-171710200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr1:171692800-171704800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:171692800-171705600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:171693000-171698800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:171693200-171699000	Weak transcription	HUVEC	blood vessel
33	chr1:171693200-171705000	Weak transcription	Fetal Intestine Small	intestine
34	chr1:171693200-171705400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:171693200-171709800	Weak transcription	Fetal Kidney	kidney
36	chr1:171693800-171697600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:171693800-171697800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:171693800-171698400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:171694000-171697600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr1:171694200-171698200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:171694200-171699000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:171694200-171699200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:171694200-171699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:171694400-171697800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:171694400-171700000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:171694400-171705200	Weak transcription	A549	lung
47	chr1:171694800-171697800	Strong transcription	Fetal Stomach	stomach
48	chr1:171694800-171704600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:171694800-171704800	Weak transcription	GM12878-XiMat	blood
50	chr1:171694800-171709000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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