Variant report

Variant	rs7333285
Chromosome Location	chr13:49762034-49762035
allele	A/G
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	chr13:49761349-49762050	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
COX7CP1	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs12872974	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1359066	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1407827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1407829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1535922	0.95[CEU][hapmap];0.82[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1928109	0.83[CEU][hapmap];0.87[CHB][hapmap]
rs1937180	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1937181	0.96[CEU][hapmap];0.87[CHB][hapmap]
rs1983805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2021622	0.82[EUR][1000 genomes]
rs2026029	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2075610	0.81[AMR][1000 genomes]
rs2146748	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2147399	0.84[EUR][1000 genomes]
rs2149498	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2181537	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2181538	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2181539	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs2183095	0.86[CEU][hapmap];0.91[CHB][hapmap]
rs2224742	0.86[ASN][1000 genomes]
rs2407266	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs2897633	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2897689	0.90[CEU][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2987528	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs2994377	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs2994378	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs2994379	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs2994380	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs3012116	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs3012117	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs3012121	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs3012127	0.96[CEU][hapmap];0.87[CHB][hapmap]
rs3012136	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs34360275	0.84[EUR][1000 genomes]
rs35018425	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4142065	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes]
rs4245350	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4258502	0.83[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap]
rs4530025	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs4942796	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs4942799	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs4942800	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6561493	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6561496	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs6561497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6561504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67235936	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7139746	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7139819	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs716722	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728075	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs7317908	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7318871	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7329291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs7333097	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs7338529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7983885	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs7986624	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7987258	0.91[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.95[YRI][hapmap]
rs7988168	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7989175	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs7990573	0.82[EUR][1000 genomes]
rs7994845	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7994910	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs7995616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap]
rs7996151	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9316426	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9316428	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9316429	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap]
rs9526518	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap]
rs9526520	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs9526525	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9526526	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535126	0.96[CEU][hapmap];0.87[CHB][hapmap]
rs9535136	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9535140	0.81[EUR][1000 genomes]
rs9535141	0.82[EUR][1000 genomes]
rs9535145	0.95[CEU][hapmap];0.91[CHB][hapmap]
rs9535146	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9535147	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9535149	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs9535154	0.95[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs9535155	0.95[CEU][hapmap];0.91[CHB][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535166	0.95[CEU][hapmap];0.91[CHB][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535167	0.95[CEU][hapmap];0.91[CHB][hapmap];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9562866	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs9562870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568143	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs9568150	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs9568151	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs9568154	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9596064	0.82[EUR][1000 genomes]
rs972297	0.95[CEU][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49724400-49765000	Weak transcription	A549	lung
3	chr13:49737800-49788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:49738000-49777000	Weak transcription	Small Intestine	intestine
5	chr13:49738400-49785200	Strong transcription	Liver	Liver
6	chr13:49738600-49785000	Strong transcription	Dnd41	blood
7	chr13:49739000-49768200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:49739000-49774200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:49739600-49786400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:49740200-49786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:49740400-49762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:49740400-49784800	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr13:49740600-49768400	Strong transcription	Fetal Thymus	thymus
14	chr13:49740600-49769000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr13:49740600-49772800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:49740600-49786600	Strong transcription	Placenta	Placenta
17	chr13:49740800-49762400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:49741600-49783400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr13:49742600-49783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:49742800-49774400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:49745600-49783400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr13:49747400-49762600	Weak transcription	Pancreas	Pancrea
23	chr13:49747400-49764000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:49747400-49766400	Weak transcription	Aorta	Aorta
25	chr13:49747400-49772000	Weak transcription	Esophagus	oesophagus
26	chr13:49747400-49772000	Weak transcription	Spleen	Spleen
27	chr13:49747800-49762800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr13:49748800-49790600	Weak transcription	K562	blood
29	chr13:49749400-49767600	Strong transcription	Primary hematopoietic stem cells	blood
30	chr13:49749400-49768200	Strong transcription	Fetal Intestine Large	intestine
31	chr13:49749400-49774000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr13:49750200-49769000	Strong transcription	Fetal Muscle Leg	muscle
33	chr13:49750800-49766200	Strong transcription	HSMM	muscle
34	chr13:49750800-49768400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr13:49751200-49768200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr13:49751400-49767800	Strong transcription	NH-A	brain
37	chr13:49752600-49762600	Weak transcription	Fetal Brain Male	brain
38	chr13:49752600-49763200	Strong transcription	HSMMtube	muscle
39	chr13:49753200-49762400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr13:49753200-49766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr13:49753200-49766400	Weak transcription	Lung	lung
42	chr13:49753200-49767400	Weak transcription	Gastric	stomach
43	chr13:49753200-49787600	Weak transcription	Psoas Muscle	Psoas
44	chr13:49753400-49765200	Weak transcription	Brain Angular Gyrus	brain
45	chr13:49753400-49772000	Weak transcription	Colonic Mucosa	Colon
46	chr13:49754800-49769400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr13:49756600-49785400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:49756600-49786400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:49756800-49762800	Strong transcription	Fetal Lung	lung
50	chr13:49756800-49763000	Strong transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links