Variant report

Variant	rs9812166
Chromosome Location	chr3:121442759-121442760
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121441670..121444797-chr3:121467934..121470201,3	K562	blood:

Variant related genes	Relation type
ENSG00000173230	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs9859116	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9867727	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv829703	chr3:121383290-121534493	Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv516233	chr3:121419301-121670405	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9812166	EAF2	Cis_1M	lymphoblastoid	RTeQTL
rs9812166	IQCB1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121386600-121447200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:121413400-121446200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:121426200-121443200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:121429000-121450000	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr3:121429400-121442800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:121429400-121448800	Strong transcription	Primary hematopoietic stem cells	blood
7	chr3:121429400-121449000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:121430200-121450000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:121430600-121449000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:121430600-121449400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:121430600-121450000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:121430800-121443600	Strong transcription	Placenta	Placenta
13	chr3:121430800-121448200	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:121430800-121448800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:121430800-121448800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:121430800-121450000	Strong transcription	Fetal Intestine Large	intestine
17	chr3:121431000-121444800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr3:121431000-121448600	Strong transcription	Adipose Nuclei	Adipose
19	chr3:121431000-121449000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:121431000-121449000	Strong transcription	Fetal Thymus	thymus
21	chr3:121431000-121449600	Strong transcription	Liver	Liver
22	chr3:121431000-121450000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:121431000-121450000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr3:121431200-121448200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:121431400-121448800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:121431400-121449800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr3:121431400-121450400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:121431600-121446000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:121431600-121446600	Strong transcription	HSMMtube	muscle
30	chr3:121431600-121449000	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr3:121432000-121444800	Strong transcription	Brain Anterior Caudate	brain
32	chr3:121432000-121444800	Strong transcription	Fetal Brain Female	brain
33	chr3:121432000-121448200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr3:121432000-121448400	Strong transcription	HSMM	muscle
35	chr3:121432000-121448800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr3:121432000-121448800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr3:121432000-121448800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:121432000-121448800	Strong transcription	NH-A	brain
39	chr3:121432000-121449000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr3:121432200-121448800	Strong transcription	Fetal Lung	lung
41	chr3:121432400-121448200	Strong transcription	Dnd41	blood
42	chr3:121432400-121449000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr3:121432600-121449800	Strong transcription	Fetal Muscle Leg	muscle
44	chr3:121433000-121444800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr3:121433800-121443000	Weak transcription	Hela-S3	cervix
46	chr3:121434000-121444800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:121434200-121444800	Strong transcription	Left Ventricle	heart
48	chr3:121434200-121448800	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:121434800-121443600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr3:121435000-121446000	Strong transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links