Variant report

Variant	rs13427947
Chromosome Location	chr2:73295249-73295250
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73291580..73295603-chr2:73297645..73300305,4	MCF-7	breast:
2	chr2:73114683..73117579-chr2:73294155..73296243,2	MCF-7	breast:
3	chr2:73293864..73295731-chr2:73320184..73322140,2	MCF-7	breast:
4	chr2:73291484..73293366-chr2:73295204..73297283,3	K562	blood:

Variant related genes	Relation type
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10166058	0.81[EUR][1000 genomes]
rs10166220	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10167566	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10174548	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10176939	0.81[EUR][1000 genomes]
rs10178854	0.82[EUR][1000 genomes]
rs10178944	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10180720	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10180995	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10189744	0.82[EUR][1000 genomes]
rs10190861	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10191665	0.82[EUR][1000 genomes]
rs10192077	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10203608	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1036512	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1046186	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865396	0.83[ASN][1000 genomes]
rs11126389	0.83[ASN][1000 genomes]
rs11686557	0.90[ASN][1000 genomes]
rs11885522	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12104691	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12233055	0.81[EUR][1000 genomes]
rs12614059	0.86[ASN][1000 genomes]
rs13018842	0.83[ASN][1000 genomes]
rs13385994	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13388404	0.82[EUR][1000 genomes]
rs13390072	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13391532	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13393567	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13400920	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13400948	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13403757	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13403781	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13407719	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13416407	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1430349	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1430350	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1430351	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17008571	0.81[EUR][1000 genomes]
rs17008611	0.82[EUR][1000 genomes]
rs17008631	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1864488	0.91[ASN][1000 genomes]
rs1992133	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813222	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3813223	0.92[ASN][1000 genomes]
rs3901273	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4144837	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4591365	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55894650	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55974516	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57536428	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57701326	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57726945	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57937746	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61161134	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61650913	0.82[EUR][1000 genomes]
rs62147724	0.80[EUR][1000 genomes]
rs62147732	0.82[EUR][1000 genomes]
rs6546794	0.80[EUR][1000 genomes]
rs6546796	0.82[EUR][1000 genomes]
rs6546797	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6546800	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546801	0.91[ASN][1000 genomes]
rs6709938	0.80[EUR][1000 genomes]
rs6710739	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6710755	0.91[ASN][1000 genomes]
rs6712925	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6713655	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6719333	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6720817	0.99[ASN][1000 genomes]
rs6727269	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6727919	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6729266	0.99[ASN][1000 genomes]
rs6732369	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6736153	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6749237	0.99[ASN][1000 genomes]
rs6750069	0.81[EUR][1000 genomes]
rs6754779	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6754858	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6757131	0.81[EUR][1000 genomes]
rs6759243	0.83[EUR][1000 genomes]
rs727470	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs727471	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs732178	0.81[EUR][1000 genomes]
rs732179	0.81[EUR][1000 genomes]
rs732180	0.81[EUR][1000 genomes]
rs7557173	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7559074	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7559340	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7566904	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7570876	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7580216	0.81[EUR][1000 genomes]
rs7593322	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7597032	0.81[EUR][1000 genomes]
rs7599657	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7602651	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs891432	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs891433	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9309471	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73275800-73297000	Weak transcription	Pancreas	Pancrea
2	chr2:73284600-73296600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:73284800-73296400	Weak transcription	Fetal Kidney	kidney
4	chr2:73285000-73295600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:73285000-73295800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:73285000-73296000	Weak transcription	Adipose Nuclei	Adipose
7	chr2:73285000-73296000	Weak transcription	Gastric	stomach
8	chr2:73285000-73296000	Weak transcription	Thymus	Thymus
9	chr2:73285000-73296600	Weak transcription	Placenta	Placenta
10	chr2:73285000-73296600	Weak transcription	Ovary	ovary
11	chr2:73285200-73295800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:73285200-73296400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:73285800-73295600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:73285800-73295600	Weak transcription	Aorta	Aorta
15	chr2:73286000-73296800	Weak transcription	Fetal Stomach	stomach
16	chr2:73286200-73295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:73286200-73296000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:73286200-73296400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:73286400-73296000	Weak transcription	Brain Germinal Matrix	brain
20	chr2:73286600-73295800	Weak transcription	Spleen	Spleen
21	chr2:73287400-73295800	Weak transcription	Fetal Brain Female	brain
22	chr2:73290200-73295800	Weak transcription	Fetal Lung	lung
23	chr2:73291000-73296200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:73291400-73295800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:73291400-73296600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:73291400-73296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:73291600-73295800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:73291600-73296400	Weak transcription	Stomach Mucosa	stomach
29	chr2:73291600-73296800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:73291600-73296800	Weak transcription	Colonic Mucosa	Colon
31	chr2:73291800-73295600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:73291800-73295600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:73291800-73295800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:73291800-73295800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:73291800-73295800	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:73291800-73295800	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:73291800-73296000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:73291800-73296000	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:73291800-73296400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr2:73291800-73296400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:73291800-73296400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:73291800-73296400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:73291800-73296600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:73291800-73297600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr2:73292000-73295400	Weak transcription	Fetal Heart	heart
46	chr2:73292000-73295800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:73292000-73295800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:73292000-73296000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:73292000-73296000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:73292000-73296000	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links