Variant report

Variant	rs7988917
Chromosome Location	chr13:48577757-48577758
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2182375	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2182377	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4942741	0.92[EUR][1000 genomes]
rs7336631	0.92[EUR][1000 genomes]
rs7982479	0.94[EUR][1000 genomes]
rs7997347	0.92[EUR][1000 genomes]
rs8002322	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs840430	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9526440	0.92[EUR][1000 genomes]
rs9534910	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9534936	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9567962	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7988917	MED4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48576000-48577800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr13:48576000-48578000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr13:48576000-48578200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:48576000-48578400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:48576000-48580200	Weak transcription	HSMM	muscle
6	chr13:48576000-48582800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:48576000-48583200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr13:48576000-48583400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:48576000-48583400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:48576000-48583600	Weak transcription	HSMMtube	muscle
11	chr13:48576000-48583800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:48576000-48587000	Weak transcription	Primary B cells from cord blood	blood
13	chr13:48576000-48587000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:48576000-48588400	Weak transcription	Fetal Intestine Large	intestine
15	chr13:48576000-48589800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:48576000-48590800	Weak transcription	Gastric	stomach
17	chr13:48576000-48603600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr13:48576000-48604000	Weak transcription	Primary T cells from cord blood	blood
19	chr13:48576000-48604800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr13:48576000-48604800	Weak transcription	Fetal Stomach	stomach
21	chr13:48576000-48604800	Weak transcription	Thymus	Thymus
22	chr13:48576000-48610800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr13:48576000-48611400	Weak transcription	Left Ventricle	heart
24	chr13:48576200-48578400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr13:48576200-48592000	Weak transcription	Fetal Intestine Small	intestine
26	chr13:48576400-48577800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:48576400-48578200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr13:48576400-48589000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr13:48576400-48605000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr13:48576600-48583200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr13:48576600-48583600	Weak transcription	Placenta	Placenta
32	chr13:48576600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:48576600-48604800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr13:48576600-48604800	Weak transcription	Dnd41	blood
35	chr13:48576600-48610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr13:48576800-48578200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr13:48576800-48578400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr13:48576800-48578600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:48576800-48579800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr13:48576800-48580200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:48576800-48580200	Weak transcription	HMEC	breast
42	chr13:48577000-48578000	Weak transcription	Hela-S3	cervix
43	chr13:48577000-48579800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr13:48577400-48577800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr13:48577400-48577800	Weak transcription	NHEK	skin
46	chr13:48577400-48578400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr13:48577600-48577800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr13:48577600-48578000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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