Variant report

Variant	rs9534934
Chromosome Location	chr13:48631060-48631061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1104351	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12874522	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1326137	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1410116	1.00[CEU][hapmap]
rs1886977	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2094190	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs2094196	1.00[JPT][hapmap]
rs2406694	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4941618	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4941624	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4942720	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4942721	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4942746	1.00[YRI][hapmap]
rs6561414	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7323702	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7323821	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7325175	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7329137	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7329266	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7329615	1.00[JPT][hapmap]
rs7332363	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7332994	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7335797	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7990099	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7991892	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7996051	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7996581	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7999270	1.00[CEU][hapmap]
rs8001032	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs8002482	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs840429	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs840432	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs840439	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs943067	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9526419	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9526455	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9534884	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9534966	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9567988	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9534934	MED4	cis	normal skin	skin_eQTL
rs9534934	MED4	Cis_1M	lymphoblastoid	RTeQTL
rs9534934	MED4	cis	lesional skin	skin_eQTL
rs9534934	MED4	cis	uninvolved skin	skin_eQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48612600-48631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:48612600-48640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:48612600-48645000	Weak transcription	Stomach Mucosa	stomach
4	chr13:48612800-48640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:48612800-48640400	Weak transcription	Psoas Muscle	Psoas
6	chr13:48613000-48640200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:48613000-48640400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:48613200-48631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:48613200-48640400	Weak transcription	Fetal Heart	heart
10	chr13:48613200-48641600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:48613200-48642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:48613400-48641600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr13:48613400-48647000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr13:48613600-48636400	Weak transcription	Hela-S3	cervix
15	chr13:48613600-48645000	Weak transcription	Small Intestine	intestine
16	chr13:48614400-48636400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr13:48616400-48642800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:48618800-48644800	Weak transcription	Colonic Mucosa	Colon
19	chr13:48623200-48640200	Weak transcription	Colon Smooth Muscle	Colon
20	chr13:48623200-48652200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr13:48625600-48631400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:48625600-48631400	Weak transcription	Fetal Intestine Small	intestine
23	chr13:48625600-48636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:48625600-48640200	Weak transcription	Fetal Kidney	kidney
25	chr13:48625600-48640200	Weak transcription	A549	lung
26	chr13:48625800-48637200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr13:48625800-48640400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr13:48626000-48640200	Weak transcription	HUVEC	blood vessel
29	chr13:48627200-48639400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr13:48627200-48640200	Weak transcription	NH-A	brain
31	chr13:48627200-48640400	Weak transcription	K562	blood
32	chr13:48627400-48634200	Weak transcription	Right Ventricle	heart
33	chr13:48627400-48636800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr13:48627400-48637200	Weak transcription	Fetal Thymus	thymus
35	chr13:48627400-48639800	Weak transcription	HSMMtube	muscle
36	chr13:48627400-48640200	Weak transcription	Brain Angular Gyrus	brain
37	chr13:48627400-48640200	Weak transcription	Brain Anterior Caudate	brain
38	chr13:48627400-48640200	Weak transcription	Fetal Brain Female	brain
39	chr13:48627400-48640200	Weak transcription	Pancreas	Pancrea
40	chr13:48627400-48640200	Weak transcription	NHDF-Ad	bronchial
41	chr13:48627400-48640400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr13:48627400-48640400	Weak transcription	Lung	lung
43	chr13:48627400-48640800	Weak transcription	Esophagus	oesophagus
44	chr13:48627400-48642200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr13:48627400-48644800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr13:48627400-48645000	Weak transcription	Gastric	stomach
47	chr13:48627400-48645200	Weak transcription	Aorta	Aorta
48	chr13:48627600-48634200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:48627600-48639200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr13:48627600-48639600	Weak transcription	Stomach Smooth Muscle	stomach

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