Variant report

Variant	rs17065074
Chromosome Location	chr13:76380242-76380243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12427729	1.00[ASW][hapmap];0.81[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap]
rs12428250	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12428617	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12428746	1.00[CEU][hapmap];0.87[AFR][1000 genomes]
rs12429534	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12430034	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12430940	0.85[ASN][1000 genomes]
rs1542115	0.87[AFR][1000 genomes]
rs17065053	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17065145	0.92[CHB][hapmap];0.96[CHD][hapmap];0.92[JPT][hapmap];0.90[MEX][hapmap];0.85[ASN][1000 genomes]
rs1924094	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2120060	0.92[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2120061	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[ASN][1000 genomes]
rs2241913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296093	0.84[ASN][1000 genomes]
rs3736858	0.85[ASN][1000 genomes]
rs3759445	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.92[ASN][1000 genomes]
rs3783025	0.86[ASN][1000 genomes]
rs3825439	0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs41287008	0.86[ASN][1000 genomes]
rs4514560	0.85[TSI][hapmap]
rs4885357	1.00[CEU][hapmap];0.87[AFR][1000 genomes]
rs56030259	0.87[EUR][1000 genomes]
rs58447742	0.83[ASN][1000 genomes]
rs61958154	0.94[EUR][1000 genomes]
rs61958155	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61958156	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61958157	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61959560	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61959561	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61959583	0.82[ASN][1000 genomes]
rs61959635	0.87[AFR][1000 genomes]
rs629443	0.90[ASN][1000 genomes]
rs9530471	0.92[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs9544047	0.97[ASN][1000 genomes]
rs9544049	0.85[ASN][1000 genomes]
rs9544050	0.92[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs9544051	0.92[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs9544053	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9544056	0.85[CHB][hapmap]
rs9544059	1.00[ASW][hapmap];0.84[CHD][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap]

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	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76361600-76397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr13:76363200-76381800	Weak transcription	Fetal Stomach	stomach
3	chr13:76364600-76385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:76367000-76387000	Weak transcription	Ovary	ovary
5	chr13:76367400-76380600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:76367400-76384400	Weak transcription	Fetal Lung	lung
7	chr13:76370400-76415600	Weak transcription	Primary B cells from cord blood	blood
8	chr13:76370800-76382400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr13:76373000-76414600	Weak transcription	HMEC	breast
10	chr13:76373200-76385800	Strong transcription	Hela-S3	cervix
11	chr13:76373400-76380800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:76373400-76387200	Weak transcription	Psoas Muscle	Psoas
13	chr13:76374600-76380400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:76374800-76380600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr13:76374800-76382400	Strong transcription	Liver	Liver
16	chr13:76375200-76383000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:76375800-76382600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:76376200-76380800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr13:76376800-76415400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:76377400-76386800	Weak transcription	Stomach Mucosa	stomach
21	chr13:76377400-76395000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr13:76377600-76380800	Strong transcription	Thymus	Thymus
23	chr13:76377600-76381000	Strong transcription	Duodenum Mucosa	Duodenum
24	chr13:76377600-76381000	Weak transcription	Small Intestine	intestine
25	chr13:76377600-76382400	Strong transcription	NHLF	lung
26	chr13:76377600-76382600	Strong transcription	Fetal Intestine Large	intestine
27	chr13:76377600-76387000	Weak transcription	Brain Germinal Matrix	brain
28	chr13:76377600-76387200	Weak transcription	Spleen	Spleen
29	chr13:76377600-76395200	Weak transcription	GM12878-XiMat	blood
30	chr13:76377600-76398600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr13:76377600-76415800	Weak transcription	Dnd41	blood
32	chr13:76377600-76416200	Weak transcription	A549	lung
33	chr13:76377800-76380600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr13:76377800-76381000	Active TSS	Fetal Brain Female	brain
35	chr13:76377800-76383400	Active TSS	Right Atrium	heart
36	chr13:76377800-76383400	Strong transcription	HepG2	liver
37	chr13:76378000-76380600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr13:76378000-76380800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr13:76378000-76380800	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr13:76378200-76380600	ZNF genes & repeats	Fetal Heart	heart
41	chr13:76378200-76381000	Active TSS	Aorta	Aorta
42	chr13:76378200-76382400	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr13:76378200-76383200	Active TSS	Right Ventricle	heart
44	chr13:76378200-76383200	Strong transcription	NH-A	brain
45	chr13:76378200-76384600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr13:76378200-76397800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr13:76378200-76415800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr13:76378400-76380800	Active TSS	Brain Anterior Caudate	brain
49	chr13:76378400-76382400	Strong transcription	Fetal Muscle Leg	muscle
50	chr13:76378400-76382600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links