Variant report

Variant	rs2182377
Chromosome Location	chr13:48587370-48587371
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48582197..48584034-chr13:48587167..48588895,2	K562	blood:
2	chr13:48582197..48584470-chr13:48587101..48588895,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12427516	0.82[ASN][1000 genomes]
rs12427964	0.94[ASN][1000 genomes]
rs12428055	0.82[ASN][1000 genomes]
rs12428102	0.82[ASN][1000 genomes]
rs12429099	0.82[ASN][1000 genomes]
rs12429348	0.82[ASN][1000 genomes]
rs12429746	0.82[ASN][1000 genomes]
rs12429993	0.82[ASN][1000 genomes]
rs12430076	0.82[ASN][1000 genomes]
rs12431057	0.94[ASN][1000 genomes]
rs1968029	0.82[ASN][1000 genomes]
rs2094191	0.82[ASN][1000 genomes]
rs2148242	0.94[ASN][1000 genomes]
rs2182219	0.83[AMR][1000 genomes]
rs2182374	0.94[ASN][1000 genomes]
rs2182375	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2897496	0.94[ASN][1000 genomes]
rs35710390	0.82[ASN][1000 genomes]
rs4942741	0.94[EUR][1000 genomes]
rs57698455	0.82[ASN][1000 genomes]
rs57957392	0.82[ASN][1000 genomes]
rs58634823	0.82[ASN][1000 genomes]
rs61585711	0.82[ASN][1000 genomes]
rs7325115	0.83[AMR][1000 genomes]
rs7336631	0.94[EUR][1000 genomes]
rs7982479	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7987109	0.83[AMR][1000 genomes]
rs7988917	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7997347	0.88[CEU][hapmap];0.94[EUR][1000 genomes]
rs8002322	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs840430	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526440	0.94[EUR][1000 genomes]
rs9534910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534936	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9567962	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[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	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2182377	MED4	cis	lesional skin	skin_eQTL
rs2182377	MED4	cis	normal skin	skin_eQTL
rs2182377	MED4	cis	multi-tissue	Pritchard
rs2182377	MED4	cis	uninvolved skin	skin_eQTL
rs2182377	MED4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48576000-48588400	Weak transcription	Fetal Intestine Large	intestine
2	chr13:48576000-48589800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr13:48576000-48590800	Weak transcription	Gastric	stomach
4	chr13:48576000-48603600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr13:48576000-48604000	Weak transcription	Primary T cells from cord blood	blood
6	chr13:48576000-48604800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr13:48576000-48604800	Weak transcription	Fetal Stomach	stomach
8	chr13:48576000-48604800	Weak transcription	Thymus	Thymus
9	chr13:48576000-48610800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr13:48576000-48611400	Weak transcription	Left Ventricle	heart
11	chr13:48576200-48592000	Weak transcription	Fetal Intestine Small	intestine
12	chr13:48576400-48589000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr13:48576400-48605000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr13:48576600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:48576600-48604800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr13:48576600-48604800	Weak transcription	Dnd41	blood
17	chr13:48576600-48610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr13:48583400-48592800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr13:48583800-48604600	Weak transcription	Liver	Liver
20	chr13:48584000-48588400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr13:48584000-48604600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr13:48584000-48610800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr13:48584200-48589200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr13:48584200-48604800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr13:48584200-48611200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:48584400-48588400	Weak transcription	HMEC	breast
27	chr13:48584400-48591400	Weak transcription	Psoas Muscle	Psoas
28	chr13:48584400-48592800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr13:48584400-48604600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:48584800-48604800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr13:48585800-48587800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr13:48586000-48603800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:48587000-48587400	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr13:48587000-48588000	Strong transcription	Primary hematopoietic stem cells	blood
35	chr13:48587000-48589000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr13:48587200-48587400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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