Variant report

Variant	rs7317908
Chromosome Location	chr13:49756127-49756128
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49744846..49747469-chr13:49755967..49758235,3	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12872974	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1359066	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1407827	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1407829	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1535922	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1983805	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2021622	0.82[EUR][1000 genomes]
rs2075610	0.81[AMR][1000 genomes]
rs2146748	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2147399	0.84[EUR][1000 genomes]
rs2181537	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2181538	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2181539	0.81[EUR][1000 genomes]
rs2224742	0.86[ASN][1000 genomes]
rs2897689	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34360275	0.84[EUR][1000 genomes]
rs35018425	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4142065	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]
rs4530025	0.82[EUR][1000 genomes]
rs4942800	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6561493	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6561496	0.81[EUR][1000 genomes]
rs6561497	0.85[ASN][1000 genomes]
rs6561504	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]
rs7318871	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7333285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338529	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7990573	0.82[EUR][1000 genomes]
rs7994845	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996151	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
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]
rs9535140	0.81[EUR][1000 genomes]
rs9535141	0.82[EUR][1000 genomes]
rs9535147	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9535149	0.81[EUR][1000 genomes]
rs9535154	0.83[EUR][1000 genomes]
rs9535155	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535156	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535166	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535167	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9562870	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568150	0.81[EUR][1000 genomes]
rs9568151	0.81[EUR][1000 genomes]
rs9568154	0.86[ASN][1000 genomes]
rs9596064	0.82[EUR][1000 genomes]
rs972297	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	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 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	chr13:49736400-49760000	Weak transcription	NHLF	lung
4	chr13:49737800-49788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:49738000-49777000	Weak transcription	Small Intestine	intestine
6	chr13:49738400-49758000	Weak transcription	Fetal Heart	heart
7	chr13:49738400-49762000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:49738400-49785200	Strong transcription	Liver	Liver
9	chr13:49738600-49757200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr13:49738600-49761400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr13:49738600-49785000	Strong transcription	Dnd41	blood
12	chr13:49738800-49761800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:49739000-49761800	Weak transcription	Brain Hippocampus Middle	brain
14	chr13:49739000-49768200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:49739000-49774200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:49739600-49786400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:49740000-49757200	Weak transcription	HMEC	breast
18	chr13:49740000-49761600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr13:49740200-49786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:49740400-49762400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:49740400-49784800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr13:49740600-49756600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:49740600-49768400	Strong transcription	Fetal Thymus	thymus
24	chr13:49740600-49769000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr13:49740600-49772800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:49740600-49786600	Strong transcription	Placenta	Placenta
27	chr13:49740800-49762400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr13:49741600-49783400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr13:49742600-49783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:49742800-49774400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:49744600-49761200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr13:49745600-49783400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr13:49746200-49756200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:49746600-49756200	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr13:49747400-49762600	Weak transcription	Pancreas	Pancrea
36	chr13:49747400-49764000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:49747400-49766400	Weak transcription	Aorta	Aorta
38	chr13:49747400-49772000	Weak transcription	Esophagus	oesophagus
39	chr13:49747400-49772000	Weak transcription	Spleen	Spleen
40	chr13:49747800-49762800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr13:49748800-49790600	Weak transcription	K562	blood
42	chr13:49749400-49767600	Strong transcription	Primary hematopoietic stem cells	blood
43	chr13:49749400-49768200	Strong transcription	Fetal Intestine Large	intestine
44	chr13:49749400-49774000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr13:49750200-49769000	Strong transcription	Fetal Muscle Leg	muscle
46	chr13:49750800-49766200	Strong transcription	HSMM	muscle
47	chr13:49750800-49768400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr13:49751200-49768200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr13:49751400-49767800	Strong transcription	NH-A	brain
50	chr13:49752600-49757400	Weak transcription	H9 Cell Line	embryonic stem cell

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