Variant report

Variant	rs325450
Chromosome Location	chr7:127474096-127474097
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127471216..127474145-chr7:127474684..127476389,2	K562	blood:
2	chr7:127473878..127476646-chr7:127477198..127480540,3	K562	blood:
3	chr7:127472811..127474462-chr7:127480282..127483012,2	MCF-7	breast:
4	chr7:127473878..127476756-chr7:127477234..127480540,3	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1019578	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228031	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229187	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1025075	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487503	1.00[EUR][1000 genomes]
rs1073155	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1440973	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.85[ASN][1000 genomes]
rs1468702	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17133046	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151515	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17151567	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17151575	1.00[EUR][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151650	1.00[EUR][1000 genomes]
rs1833146	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966517	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2582716	0.83[ASN][1000 genomes]
rs325438	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325439	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325443	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325448	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325449	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757772	0.83[AMR][1000 genomes]
rs4728078	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728082	1.00[EUR][1000 genomes]
rs4731379	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731382	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731383	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731384	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731390	1.00[EUR][1000 genomes]
rs4731391	1.00[EUR][1000 genomes]
rs61743021	1.00[EUR][1000 genomes]
rs6467142	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467146	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467147	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467149	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467150	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467151	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467154	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6946590	1.00[EUR][1000 genomes]
rs6950211	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952123	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6952734	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6953530	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6964714	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6972398	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6975274	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6976145	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6979918	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs698407	0.83[ASN][1000 genomes]
rs698409	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712706	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712709	0.83[ASN][1000 genomes]
rs712710	0.83[ASN][1000 genomes]
rs712711	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712713	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712714	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712717	0.83[ASN][1000 genomes]
rs712720	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73721253	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73721258	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73721261	1.00[EUR][1000 genomes]
rs73721264	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7458839	0.89[ASN][1000 genomes]
rs7791000	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7794303	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794328	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7804310	1.00[EUR][1000 genomes]
rs7809182	0.85[ASN][1000 genomes]
rs806126	0.83[ASN][1000 genomes]
rs806163	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806164	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806165	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806167	0.83[ASN][1000 genomes]
rs806168	0.83[ASN][1000 genomes]
rs806173	0.93[AMR][1000 genomes]
rs806182	0.81[AMR][1000 genomes]
rs809333	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
2	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr7:127456400-127476800	Weak transcription	Esophagus	oesophagus
4	chr7:127457000-127477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:127457000-127497800	Weak transcription	Gastric	stomach
6	chr7:127460800-127477200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:127461000-127484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
10	chr7:127461400-127474600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:127461400-127476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:127461400-127476800	Weak transcription	HSMM	muscle
13	chr7:127461400-127477000	Weak transcription	Primary T cells from cord blood	blood
14	chr7:127461400-127477200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:127461400-127477200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:127461400-127477400	Weak transcription	NH-A	brain
17	chr7:127461400-127477600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:127461600-127485600	Weak transcription	HSMMtube	muscle
19	chr7:127463200-127477200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:127463400-127474400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr7:127463400-127476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:127463400-127477600	Weak transcription	Fetal Intestine Small	intestine
23	chr7:127463400-127479000	Weak transcription	Fetal Lung	lung
24	chr7:127463600-127474400	Weak transcription	Spleen	Spleen
25	chr7:127463600-127477600	Weak transcription	HMEC	breast
26	chr7:127463600-127482800	Weak transcription	Small Intestine	intestine
27	chr7:127463800-127474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:127463800-127475600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr7:127463800-127477200	Weak transcription	NHEK	skin
30	chr7:127464000-127474600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:127465000-127483200	Weak transcription	HepG2	liver
32	chr7:127469400-127476000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:127469400-127488800	Weak transcription	Thymus	Thymus
34	chr7:127469800-127477200	Weak transcription	Primary B cells from cord blood	blood
35	chr7:127470000-127475800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr7:127470200-127484400	Weak transcription	Fetal Heart	heart
37	chr7:127471000-127474600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr7:127471400-127475600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr7:127471800-127474800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:127471800-127477200	Weak transcription	Fetal Kidney	kidney
41	chr7:127471800-127478000	Weak transcription	Right Ventricle	heart
42	chr7:127471800-127484200	Weak transcription	Left Ventricle	heart
43	chr7:127471800-127495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:127472000-127474400	Weak transcription	GM12878-XiMat	blood
45	chr7:127472200-127474400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:127472200-127484000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:127472600-127476600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr7:127472600-127477600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:127472800-127476000	Weak transcription	Dnd41	blood
50	chr7:127472800-127477200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links