Variant report

Variant	rs2516331
Chromosome Location	chr1:212416989-212416990
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212416179..212418074-chr1:212422362..212425881,3	K562	blood:
2	chr1:212385419..212387445-chr1:212414285..212417488,3	K562	blood:
3	chr1:212414204..212417772-chr1:212418799..212421886,6	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1009622	0.96[ASN][1000 genomes]
rs11119887	0.83[ASN][1000 genomes]
rs11119904	0.83[EUR][1000 genomes]
rs12035647	0.82[EUR][1000 genomes]
rs12036130	0.86[EUR][1000 genomes]
rs1389371	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17042034	0.83[EUR][1000 genomes]
rs1992643	0.84[EUR][1000 genomes]
rs2589474	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs351373	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs351377	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs351378	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs351379	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs351380	0.82[EUR][1000 genomes]
rs351386	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs351393	0.82[EUR][1000 genomes]
rs351398	0.82[EUR][1000 genomes]
rs351401	0.84[EUR][1000 genomes]
rs351407	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs351408	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs351417	0.86[EUR][1000 genomes]
rs351419	0.90[EUR][1000 genomes]
rs4951582	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7544225	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv997899	chr1:212416909-212417311	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2516331	TMEM206	cis	Esophagus Mucosa	GTEx
rs2516331	C1orf75	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212410200-212417000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:212412200-212417400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:212412200-212417400	Weak transcription	GM12878-XiMat	blood
4	chr1:212412400-212417800	Weak transcription	Fetal Muscle Leg	muscle
5	chr1:212412400-212420600	Weak transcription	Fetal Lung	lung
6	chr1:212413200-212420200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:212415200-212419800	Weak transcription	Spleen	Spleen
8	chr1:212415200-212420400	Weak transcription	Fetal Heart	heart
9	chr1:212415200-212420800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:212415400-212417200	Enhancers	Stomach Mucosa	stomach
11	chr1:212416000-212417400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:212416000-212418200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:212416000-212420600	Weak transcription	Osteobl	bone
14	chr1:212416200-212417400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:212416200-212420600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:212416400-212417000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:212416400-212420200	Weak transcription	HUVEC	blood vessel
18	chr1:212416400-212420600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:212416400-212420600	Weak transcription	Lung	lung
20	chr1:212416400-212420600	Enhancers	HepG2	liver
21	chr1:212416400-212421400	Weak transcription	Psoas Muscle	Psoas
22	chr1:212416600-212417400	Enhancers	K562	blood
23	chr1:212416600-212417800	Weak transcription	Fetal Intestine Large	intestine
24	chr1:212416600-212417800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:212416600-212420000	Weak transcription	Right Atrium	heart
26	chr1:212416600-212420200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:212416600-212420600	Weak transcription	Fetal Stomach	stomach
28	chr1:212416600-212420600	Weak transcription	Left Ventricle	heart
29	chr1:212416600-212420600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:212416600-212420600	Weak transcription	Right Ventricle	heart
31	chr1:212416600-212420600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:212416600-212420800	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:212416600-212430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:212416800-212417600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr1:212416800-212418000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:212416800-212420200	Weak transcription	Adipose Nuclei	Adipose
37	chr1:212416800-212420800	Weak transcription	Liver	Liver

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