Variant report

Variant	rs7329291
Chromosome Location	chr13:49573284-49573285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49568955..49571028-chr13:49572670..49574624,2	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs12872974	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1359066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1407827	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1407829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1535922	0.95[CEU][hapmap];0.82[CHB][hapmap]
rs1928109	0.83[CEU][hapmap];0.87[CHB][hapmap];0.94[EUR][1000 genomes]
rs1928110	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1937180	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1937181	0.96[CEU][hapmap];0.87[CHB][hapmap]
rs1983805	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs2021622	0.84[EUR][1000 genomes]
rs2026029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2146748	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2149498	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2181537	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2181538	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2181539	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2183095	0.86[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes]
rs2407265	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2407266	0.95[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes]
rs2897633	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2987528	0.95[CEU][hapmap];0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2987532	0.91[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2987535	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2994377	0.95[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs2994378	0.95[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs2994379	0.95[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes]
rs2994380	0.95[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes]
rs2994381	0.89[EUR][1000 genomes]
rs3012116	0.95[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes]
rs3012117	0.95[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes]
rs3012118	0.95[EUR][1000 genomes]
rs3012121	0.95[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes]
rs3012127	0.96[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs3012133	0.95[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3012135	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3012136	0.95[CEU][hapmap];0.91[CHB][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4142065	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs4258502	0.83[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.91[ASN][1000 genomes]
rs4530025	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs4942795	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4942796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942798	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4942799	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4942800	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6561491	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561493	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6561496	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs6561497	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs6561504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs7139854	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs720627	0.91[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs728075	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7318871	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7325026	0.84[EUR][1000 genomes]
rs7328000	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7331917	0.81[EUR][1000 genomes]
rs7333097	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs7333285	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs7338529	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7983885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7986624	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7987258	0.91[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7988168	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7989175	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs7994368	0.83[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.87[ASN][1000 genomes]
rs7994910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7995616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7997118	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7998359	0.95[CEU][hapmap];0.86[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7999513	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8248	0.84[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs9316426	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316427	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9316428	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9316429	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs9526517	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9526518	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9526520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9526521	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9535126	0.96[CEU][hapmap];0.87[CHB][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535133	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9535136	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9535140	0.85[EUR][1000 genomes]
rs9535141	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9535145	0.95[CEU][hapmap];0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs9535146	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs9535147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9535149	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9535154	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs9535155	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs9535156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9535166	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs9535167	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs9562866	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9562870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs9568143	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs9568150	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9568151	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs9568154	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9591235	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv455882	chr13:49531551-49679157	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv561593	chr13:49531551-49679157	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv900067	chr13:49552271-49594818	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv900068	chr13:49559790-49605774	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49551400-49638800	Weak transcription	Pancreas	Pancrea
2	chr13:49553600-49596200	Weak transcription	Ovary	ovary
3	chr13:49555000-49581600	Weak transcription	Left Ventricle	heart
4	chr13:49557000-49579800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:49557000-49626800	Weak transcription	Right Ventricle	heart
6	chr13:49560000-49587600	Weak transcription	Fetal Kidney	kidney
7	chr13:49560200-49578000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr13:49560200-49581000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:49560800-49587200	Weak transcription	Small Intestine	intestine
10	chr13:49563800-49583400	Weak transcription	Fetal Heart	heart
11	chr13:49565600-49573400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr13:49565600-49573600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:49566000-49585400	Weak transcription	Fetal Stomach	stomach
14	chr13:49566200-49573400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:49566800-49573400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:49567000-49580200	Weak transcription	HSMM	muscle
17	chr13:49567600-49573600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:49567600-49574400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr13:49568000-49598200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr13:49568600-49580400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:49568800-49626800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:49568800-49627000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr13:49569000-49580200	Weak transcription	Placenta	Placenta
24	chr13:49569200-49573800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr13:49570400-49584400	Weak transcription	Gastric	stomach
26	chr13:49570800-49573800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:49571200-49584200	Weak transcription	Thymus	Thymus
28	chr13:49571400-49575600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr13:49572000-49604800	Weak transcription	Aorta	Aorta
30	chr13:49572400-49581400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:49572600-49573600	Enhancers	HepG2	liver
32	chr13:49572800-49573600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr13:49572800-49574000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:49572800-49575200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:49572800-49576400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:49573000-49573400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:49573000-49573400	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr13:49573000-49573600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr13:49573000-49573600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr13:49573000-49573800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr13:49573000-49574000	ZNF genes & repeats	Hela-S3	cervix
42	chr13:49573000-49574200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr13:49573000-49574600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr13:49573000-49574600	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
45	chr13:49573000-49575000	ZNF genes & repeats	Primary B cells from cord blood	blood
46	chr13:49573200-49573400	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
47	chr13:49573200-49573400	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr13:49573200-49573400	Enhancers	Esophagus	oesophagus
49	chr13:49573200-49573600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr13:49573200-49573800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links