Variant report

Variant	rs2214916
Chromosome Location	chr7:108102129-108102130
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	EP300	chr7:108099888-108103052	SK-N-SH	brain:	n/a	chr7:108102354-108102363 chr7:108100633-108100647 chr7:108100695-108100709 chr7:108099988-108100002 chr7:108100689-108100703 chr7:108100635-108100649 chr7:108100701-108100715
2	RAD21	chr7:108099865-108103108	SK-N-SH	brain:	n/a	chr7:108100590-108100609

No.	Distal block	Cell Line	Cell type
1	chr7:108094254..108096481-chr7:108100316..108102970,2	K562	blood:
2	chr7:108101662..108103769-chr7:108105980..108107741,2	MCF-7	breast:
3	chr7:108092620..108097023-chr7:108100316..108104112,6	K562	blood:
4	chr7:108095530..108098596-chr7:108100575..108103691,3	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10273997	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10278246	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1034825	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1034829	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13221639	0.80[EUR][1000 genomes]
rs13244602	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1473131	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17339110	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1859769	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1859771	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1859772	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1859774	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1859775	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs194585	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs194586	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2284291	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2284292	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2300053	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2396001	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3763462	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3815252	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs40846	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs40849	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs40856	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs40890	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs40903	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6466239	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6466240	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6966431	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6976478	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs726471	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73426110	0.94[EUR][1000 genomes]
rs7800334	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7806223	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs917251	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9640707	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9785006	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108097200-108118000	Weak transcription	Aorta	Aorta
2	chr7:108097800-108103200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:108098200-108140600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:108100000-108102800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:108100400-108102200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:108100400-108103000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:108100400-108106600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:108100800-108102200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:108100800-108102800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:108100800-108103200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:108100800-108108800	Weak transcription	HUVEC	blood vessel
12	chr7:108101000-108102200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:108101000-108102200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:108101000-108103200	Weak transcription	Primary T cells from cord blood	blood
15	chr7:108101000-108119200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:108101200-108102400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:108101400-108102800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:108101400-108116800	Weak transcription	Osteobl	bone
19	chr7:108101600-108102400	Enhancers	Pancreas	Pancrea
20	chr7:108101800-108102600	Enhancers	Fetal Muscle Leg	muscle
21	chr7:108101800-108108400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links