Variant report

Variant	rs7521292
Chromosome Location	chr1:155941685-155941686
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155941597-155942735	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155932456..155935172-chr1:155940207..155941869,2	MCF-7	breast:
2	chr1:155902972..155905635-chr1:155940527..155942498,2	K562	blood:
3	chr1:155902826..155904472-chr1:155940527..155942381,2	K562	blood:

Variant related genes	Relation type
ARHGEF2	TF binding region
ENSG00000132680	Chromatin interaction
ENSG00000116584	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10796955	0.81[AMR][1000 genomes]
rs1889532	0.81[AMR][1000 genomes]
rs1889533	0.81[AMR][1000 genomes]

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	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7521292	RIT1	cis	Thyroid	GTEx
rs7521292	RIT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155905000-155945600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:155933000-155942200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:155934800-155944400	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr1:155935000-155942800	Genic enhancers	Right Ventricle	heart
5	chr1:155935000-155943200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:155935000-155944800	Enhancers	Fetal Heart	heart
7	chr1:155936400-155944000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:155936600-155944200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:155936800-155944600	Genic enhancers	Fetal Stomach	stomach
10	chr1:155937000-155944200	Genic enhancers	Thymus	Thymus
11	chr1:155937600-155942600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:155937800-155942800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:155938000-155942200	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr1:155938000-155944400	Genic enhancers	Fetal Thymus	thymus
15	chr1:155938200-155943200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:155938200-155944000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:155938400-155942800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:155938800-155941800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:155939000-155942200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
20	chr1:155939200-155943600	Weak transcription	Fetal Kidney	kidney
21	chr1:155939400-155944000	Genic enhancers	Fetal Muscle Leg	muscle
22	chr1:155939600-155942000	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr1:155939600-155942600	Enhancers	Small Intestine	intestine
24	chr1:155939800-155941800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:155939800-155942000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:155939800-155944000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:155940000-155943200	Enhancers	HepG2	liver
28	chr1:155940000-155943600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:155940200-155942000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr1:155940200-155942200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:155940200-155942400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:155940200-155943000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr1:155940400-155941800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr1:155940400-155941800	Enhancers	NH-A	brain
35	chr1:155940400-155942000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:155940400-155944200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:155940400-155944400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:155940600-155941800	Weak transcription	Fetal Intestine Large	intestine
39	chr1:155940600-155941800	Weak transcription	Psoas Muscle	Psoas
40	chr1:155940600-155942000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:155940600-155942000	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr1:155940600-155942000	Weak transcription	NHEK	skin
43	chr1:155940600-155943400	Strong transcription	Fetal Intestine Small	intestine
44	chr1:155940800-155941800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:155940800-155941800	Enhancers	Primary hematopoietic stem cells	blood
46	chr1:155940800-155941800	Enhancers	Adipose Nuclei	Adipose
47	chr1:155940800-155941800	Enhancers	Brain Cingulate Gyrus	brain
48	chr1:155940800-155941800	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:155940800-155941800	Weak transcription	Ovary	ovary
50	chr1:155940800-155942000	Enhancers	NHLF	lung

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