Variant report

Variant	rs325449
Chromosome Location	chr7:127472529-127472530
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30812418..30814801-chr7:127470835..127472989,2	MCF-7	breast:
2	chr7:127471216..127474145-chr7:127474684..127476389,2	K562	blood:
3	chr7:127471615..127473255-chr7:127479244..127481385,2	K562	blood:
4	chr7:127465782..127468789-chr7:127470154..127473836,3	MCF-7	breast:
5	chr7:127471870..127473647-chr7:127477546..127479321,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1019578	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228031	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229187	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1025075	0.97[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	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12536253	1.00[JPT][hapmap]
rs1440973	0.96[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	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17133046	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151515	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17151567	0.84[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17151575	1.00[EUR][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151639	1.00[JPT][hapmap]
rs17151650	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1833146	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966517	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2402873	1.00[JPT][hapmap]
rs2582716	0.83[ASN][1000 genomes]
rs325438	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325439	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325443	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757772	1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs4728078	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728082	0.84[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4731379	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731382	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731383	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731384	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731390	0.84[ASW][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4731391	1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs61743021	1.00[EUR][1000 genomes]
rs6467142	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467146	0.92[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	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467150	0.96[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	0.84[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6946590	1.00[EUR][1000 genomes]
rs6950211	0.95[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	1.00[EUR][1000 genomes]
rs6953530	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6964714	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6972398	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6975274	1.00[EUR][1000 genomes]
rs6976145	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6979918	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs698407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs698409	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712706	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712708	0.84[ASW][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[MKK][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs712709	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs712710	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs712711	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712713	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712717	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs712720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[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	0.84[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7794303	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794328	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7804310	1.00[EUR][1000 genomes]
rs7809182	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs806126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs806161	0.84[AFR][1000 genomes]
rs806163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806164	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806165	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806167	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs806168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs806171	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap]
rs806173	1.00[CHB][hapmap];1.00[JPT][hapmap];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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
3	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:127449600-127472600	Weak transcription	Lung	lung
5	chr7:127456400-127476800	Weak transcription	Esophagus	oesophagus
6	chr7:127457000-127477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:127457000-127497800	Weak transcription	Gastric	stomach
8	chr7:127460800-127472800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:127460800-127477200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:127461000-127484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
13	chr7:127461400-127473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:127461400-127474600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:127461400-127476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:127461400-127476800	Weak transcription	HSMM	muscle
17	chr7:127461400-127477000	Weak transcription	Primary T cells from cord blood	blood
18	chr7:127461400-127477200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr7:127461400-127477200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:127461400-127477400	Weak transcription	NH-A	brain
21	chr7:127461400-127477600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:127461600-127473400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:127461600-127473800	Weak transcription	NHDF-Ad	bronchial
24	chr7:127461600-127485600	Weak transcription	HSMMtube	muscle
25	chr7:127463200-127477200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:127463400-127474400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr7:127463400-127476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:127463400-127477600	Weak transcription	Fetal Intestine Small	intestine
29	chr7:127463400-127479000	Weak transcription	Fetal Lung	lung
30	chr7:127463600-127472600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr7:127463600-127473200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr7:127463600-127474400	Weak transcription	Spleen	Spleen
33	chr7:127463600-127477600	Weak transcription	HMEC	breast
34	chr7:127463600-127482800	Weak transcription	Small Intestine	intestine
35	chr7:127463800-127472800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:127463800-127474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:127463800-127475600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:127463800-127477200	Weak transcription	NHEK	skin
39	chr7:127464000-127474600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:127464600-127473800	Weak transcription	K562	blood
41	chr7:127465000-127483200	Weak transcription	HepG2	liver
42	chr7:127465200-127473200	Weak transcription	HUVEC	blood vessel
43	chr7:127469000-127472600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:127469400-127472800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr7:127469400-127476000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:127469400-127488800	Weak transcription	Thymus	Thymus
47	chr7:127469800-127477200	Weak transcription	Primary B cells from cord blood	blood
48	chr7:127470000-127475800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:127470200-127484400	Weak transcription	Fetal Heart	heart
50	chr7:127471000-127472800	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links