Variant report

Variant	rs16902376
Chromosome Location	chr8:91027869-91027870
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91012528..91015432-chr8:91026705..91029174,2	MCF-7	breast:
2	chr8:91021301..91024029-chr8:91024257..91028191,5	MCF-7	breast:
3	chr8:91013405..91015757-chr8:91025249..91028421,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000104325	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12675530	0.82[ASW][hapmap];0.80[MKK][hapmap]
rs13312853	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13312862	1.00[CHD][hapmap]
rs13312883	0.83[AMR][1000 genomes]
rs13312894	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs13312897	0.83[AMR][1000 genomes]
rs13312905	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs13312925	0.82[ASW][hapmap];0.81[LWK][hapmap];0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs13312937	1.00[ASW][hapmap];0.90[LWK][hapmap];0.92[YRI][hapmap];0.83[AMR][1000 genomes]
rs13312951	0.83[AMR][1000 genomes]
rs16902465	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16902840	0.83[AMR][1000 genomes]
rs1805814	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs1805819	0.83[AMR][1000 genomes]
rs1805821	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805827	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs1805828	0.85[YRI][hapmap];0.83[AMR][1000 genomes]
rs1805839	0.91[YRI][hapmap]
rs1805843	0.82[ASW][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805845	1.00[AMR][1000 genomes]
rs1805887	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1805910	0.83[AMR][1000 genomes]
rs7017507	0.83[AMR][1000 genomes]
rs73308410	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308442	0.83[AMR][1000 genomes]
rs7835616	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16902376	EPB41L3	trans	lymphoblastoid	seeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91014600-91033600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:91014600-91045600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:91014800-91031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:91014800-91031200	Weak transcription	Fetal Brain Male	brain
5	chr8:91014800-91031200	Weak transcription	Placenta	Placenta
6	chr8:91014800-91031400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:91014800-91031400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:91014800-91031400	Weak transcription	Esophagus	oesophagus
9	chr8:91014800-91033800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:91014800-91034200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:91014800-91042400	Weak transcription	Colonic Mucosa	Colon
12	chr8:91015000-91031200	Weak transcription	Brain Angular Gyrus	brain
13	chr8:91015000-91031400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:91015400-91031200	Weak transcription	HSMMtube	muscle
15	chr8:91015400-91031400	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:91015400-91031400	Weak transcription	Brain Substantia Nigra	brain
17	chr8:91015400-91031400	Weak transcription	Fetal Kidney	kidney
18	chr8:91015600-91031200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:91015600-91066200	Weak transcription	Hela-S3	cervix
20	chr8:91015800-91029000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:91015800-91031200	Weak transcription	Brain Anterior Caudate	brain
22	chr8:91015800-91031200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:91015800-91031200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:91015800-91033200	Weak transcription	Stomach Mucosa	stomach
25	chr8:91017400-91028600	Enhancers	Fetal Heart	heart
26	chr8:91017400-91031000	Weak transcription	HSMM	muscle
27	chr8:91018200-91031400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:91018400-91031000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:91018400-91031200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:91018400-91031200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:91018400-91031400	Weak transcription	Fetal Stomach	stomach
32	chr8:91018400-91031400	Weak transcription	Thymus	Thymus
33	chr8:91018400-91034400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:91018600-91031200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:91018600-91031200	Weak transcription	Osteobl	bone
36	chr8:91018600-91065400	Weak transcription	HMEC	breast
37	chr8:91018800-91028000	Weak transcription	Fetal Thymus	thymus
38	chr8:91018800-91031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:91019000-91031400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:91019000-91057000	Weak transcription	Fetal Brain Female	brain
41	chr8:91019200-91031400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:91019400-91031200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:91019400-91031200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:91019400-91031200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr8:91019400-91031400	Weak transcription	GM12878-XiMat	blood
46	chr8:91019600-91029400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr8:91019600-91034000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:91019800-91029400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:91019800-91048600	Weak transcription	K562	blood
50	chr8:91020200-91031200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links