Variant report

Variant	rs55826686
Chromosome Location	chr7:128092416-128092417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:128077598..128080477-chr7:128092228..128095663,3	K562	blood:
2	chr7:128072011..128074476-chr7:128091797..128093938,2	K562	blood:
3	chr7:128090610..128092505-chr7:128094559..128097059,2	MCF-7	breast:
4	chr7:128082541..128090035-chr7:128090151..128101015,22	MCF-7	breast:
5	chr7:128090220..128093151-chr7:128093221..128095086,2	K562	blood:
6	chr7:128081326..128084336-chr7:128089297..128092951,3	K562	blood:

Variant related genes	Relation type
ENSG00000228700	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000238590	Chromatin interaction
ENSG00000135245	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10954186	0.98[ASN][1000 genomes]
rs11765126	0.84[ASN][1000 genomes]
rs11977296	0.84[ASN][1000 genomes]
rs11981766	0.84[ASN][1000 genomes]
rs12706851	0.84[ASN][1000 genomes]
rs13222212	0.84[ASN][1000 genomes]
rs13227646	0.84[ASN][1000 genomes]
rs2076805	0.84[ASN][1000 genomes]
rs35649907	0.84[ASN][1000 genomes]
rs4566975	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67076895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67091533	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6975115	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv608401	chr7:128083454-128108776	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs55826686	METTL2B	cis	Muscle Skeletal	GTEx
rs55826686	METTL2A///METTL2B	trans	lymphoblastoid	RTeQTL
rs55826686	METTL2A///METTL2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128075600-128093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:128075600-128093800	Weak transcription	Pancreas	Pancrea
3	chr7:128078600-128095200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:128084600-128095800	Weak transcription	Gastric	stomach
5	chr7:128084800-128093600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:128084800-128093800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:128086400-128095200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:128086600-128093800	Weak transcription	Right Atrium	heart
9	chr7:128086800-128093800	Weak transcription	Brain Anterior Caudate	brain
10	chr7:128086800-128093800	Weak transcription	Right Ventricle	heart
11	chr7:128087000-128093400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:128087000-128093600	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:128089000-128093800	Weak transcription	Stomach Mucosa	stomach
14	chr7:128090600-128093800	Weak transcription	HSMM	muscle
15	chr7:128090800-128093600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:128090800-128093600	Weak transcription	HSMMtube	muscle
17	chr7:128090800-128094000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:128090800-128094800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr7:128091000-128093400	Weak transcription	Left Ventricle	heart
20	chr7:128091000-128093600	Weak transcription	Fetal Heart	heart
21	chr7:128091000-128094000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:128091000-128095000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr7:128091200-128093400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:128091200-128093600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:128091800-128093000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:128091800-128094400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:128091800-128094800	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:128092000-128092600	Enhancers	A549	lung
29	chr7:128092200-128092600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:128092200-128092600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr7:128092200-128093200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:128092200-128093200	Weak transcription	GM12878-XiMat	blood
33	chr7:128092200-128094600	Enhancers	Fetal Intestine Large	intestine
34	chr7:128092200-128095200	Enhancers	HepG2	liver
35	chr7:128092400-128092600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:128092400-128092600	Enhancers	K562	blood
37	chr7:128092400-128093600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:128092400-128093600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:128092400-128093800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr7:128092400-128094600	Enhancers	Fetal Intestine Small	intestine

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