Variant report

Variant	rs8072
Chromosome Location	chr3:150459193-150459194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:150457628..150460204-chr3:150468516..150471242,2	K562	blood:
2	chr3:150456316..150460204-chr3:150468516..150472450,4	K562	blood:
3	chr3:150458738..150461202-chr3:150461404..150463253,2	MCF-7	breast:
4	chr3:150457697..150460928-chr3:150461063..150463288,3	K562	blood:
5	chr3:150457190..150462784-chr3:150464439..150467778,5	K562	blood:
6	chr3:150452566..150460091-chr3:150475752..150483574,15	K562	blood:
7	chr3:150456138..150457755-chr3:150457947..150459556,2	MCF-7	breast:
8	chr3:150450337..150459570-chr3:150476282..150483839,23	K562	blood:

No data

Variant related genes	Relation type
ENSG00000244265	Chromatin interaction
ENSG00000181788	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11919896	1.00[EUR][1000 genomes]
rs73006988	1.00[EUR][1000 genomes]
rs73010951	0.83[AMR][1000 genomes]
rs73010958	0.83[AMR][1000 genomes]
rs73010969	0.83[AMR][1000 genomes]
rs7610549	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8072	IFT46	trans	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150451400-150459200	Weak transcription	HSMMtube	muscle
2	chr3:150451400-150461400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:150451800-150462400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:150453600-150460000	Weak transcription	Lung	lung
5	chr3:150453800-150478000	Weak transcription	Brain Germinal Matrix	brain
6	chr3:150454600-150469800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:150454600-150477200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:150454800-150459600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:150454800-150459600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:150454800-150462600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:150454800-150467200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:150455400-150459200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr3:150455800-150460000	Weak transcription	Brain Anterior Caudate	brain
14	chr3:150456200-150459600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:150456200-150461200	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:150456400-150461600	Weak transcription	Psoas Muscle	Psoas
17	chr3:150456400-150477600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:150456600-150477600	Weak transcription	Fetal Brain Male	brain
19	chr3:150456800-150459800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:150456800-150459800	Enhancers	Liver	Liver
21	chr3:150456800-150461000	Weak transcription	Right Atrium	heart
22	chr3:150456800-150461600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr3:150456800-150462400	Weak transcription	Small Intestine	intestine
24	chr3:150456800-150477400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:150457000-150460600	Weak transcription	NH-A	brain
26	chr3:150457000-150461200	Weak transcription	Stomach Mucosa	stomach
27	chr3:150457000-150461200	Weak transcription	A549	lung
28	chr3:150457000-150461400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:150457000-150461400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr3:150457000-150478800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:150457400-150459400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:150457400-150460600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:150457600-150459200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:150457600-150459400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:150457600-150459600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:150457600-150459600	Strong transcription	NHEK	skin
37	chr3:150457600-150460400	Strong transcription	Aorta	Aorta
38	chr3:150457600-150460600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:150457600-150460600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr3:150457600-150477600	Weak transcription	HUVEC	blood vessel
41	chr3:150457800-150460200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:150457800-150460600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:150457800-150460600	Strong transcription	Fetal Stomach	stomach
44	chr3:150457800-150460800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr3:150458000-150459800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:150458000-150460000	Weak transcription	Fetal Lung	lung
47	chr3:150458000-150461400	Strong transcription	Fetal Intestine Small	intestine
48	chr3:150458200-150459600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:150458200-150460800	Genic enhancers	Primary B cells from cord blood	blood
50	chr3:150458200-150466000	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links