Variant report

Variant	rs9314978
Chromosome Location	chr13:30367057-30367058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30343717..30345488-chr13:30365364..30367751,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1058650	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11147398	0.89[ASN][1000 genomes]
rs12872400	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1323931	1.00[ASN][1000 genomes]
rs1410110	0.91[ASN][1000 genomes]
rs1927193	0.80[ASN][1000 genomes]
rs2025604	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2182129	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2234416	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2388246	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2388247	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2761938	0.86[ASN][1000 genomes]
rs2761939	0.87[ASN][1000 genomes]
rs2761940	0.84[ASN][1000 genomes]
rs278034	0.84[ASN][1000 genomes]
rs35541102	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4083610	0.89[ASN][1000 genomes]
rs4238128	0.89[ASN][1000 genomes]
rs4265673	0.91[ASN][1000 genomes]
rs4297554	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4387451	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4769775	0.89[ASN][1000 genomes]
rs6490429	0.91[ASN][1000 genomes]
rs6490430	0.91[ASN][1000 genomes]
rs72623487	0.89[ASN][1000 genomes]
rs7320474	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7326253	0.91[ASN][1000 genomes]
rs7330356	0.83[ASN][1000 genomes]
rs7335148	0.91[ASN][1000 genomes]
rs765404	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7981622	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7995666	0.89[ASN][1000 genomes]
rs9314972	0.80[ASN][1000 genomes]
rs9314975	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9506226	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9506229	0.91[ASN][1000 genomes]
rs9506231	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9506233	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9508553	0.96[ASN][1000 genomes]
rs9508554	0.89[ASN][1000 genomes]
rs9508557	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508558	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9508559	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9508560	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9508561	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9508564	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9508568	0.84[ASN][1000 genomes]
rs9550494	0.89[ASN][1000 genomes]
rs9551741	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9551744	0.88[ASN][1000 genomes]
rs9551751	0.94[ASN][1000 genomes]
rs9551753	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9578136	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9578139	0.91[ASN][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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30333200-30368200	Weak transcription	Aorta	Aorta
2	chr13:30333600-30376200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr13:30341200-30373200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:30359000-30367200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr13:30360400-30368000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:30360600-30368000	Weak transcription	Fetal Intestine Large	intestine
7	chr13:30360600-30374800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:30361400-30367400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:30361800-30373000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr13:30362400-30370800	Weak transcription	NHDF-Ad	bronchial
11	chr13:30362400-30375600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:30362600-30372600	Weak transcription	Small Intestine	intestine
13	chr13:30362800-30368400	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr13:30363200-30373200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr13:30363400-30368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr13:30363400-30372200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:30363400-30375400	Weak transcription	Lung	lung
18	chr13:30363800-30385000	Weak transcription	Left Ventricle	heart
19	chr13:30364200-30372200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:30364400-30367200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr13:30365000-30368200	Enhancers	Brain Anterior Caudate	brain
22	chr13:30365000-30373000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr13:30365200-30370600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr13:30365400-30368000	Enhancers	Brain Substantia Nigra	brain
25	chr13:30365600-30368400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr13:30365800-30367600	Enhancers	Brain Germinal Matrix	brain
27	chr13:30365800-30383200	Weak transcription	Ovary	ovary
28	chr13:30366000-30368000	Weak transcription	Pancreas	Pancrea
29	chr13:30366000-30368800	Weak transcription	Liver	Liver
30	chr13:30366000-30375200	Weak transcription	Gastric	stomach
31	chr13:30366000-30375600	Weak transcription	Brain Angular Gyrus	brain
32	chr13:30366200-30367800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr13:30366200-30381400	Weak transcription	Stomach Mucosa	stomach
34	chr13:30366600-30367200	Active TSS	Brain Hippocampus Middle	brain
35	chr13:30366600-30367600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr13:30366600-30369400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:30366800-30367600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr13:30366800-30367600	Enhancers	Brain Cingulate Gyrus	brain
39	chr13:30366800-30367800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr13:30366800-30370400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr13:30366800-30370600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:30367000-30367200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr13:30367000-30367400	Enhancers	Fetal Brain Male	brain
44	chr13:30367000-30370800	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links