Variant report

Variant	rs988282
Chromosome Location	chr7:69085009-69085010
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	chr7:69081949..69083944-chr7:69084225..69087022,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10085775	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1014382	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10237145	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10241485	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10950191	0.83[AMR][1000 genomes]
rs11765886	0.83[ASN][1000 genomes]
rs11983891	0.82[EUR][1000 genomes]
rs12333508	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531914	0.83[ASN][1000 genomes]
rs12669765	0.80[AMR][1000 genomes]
rs13232095	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1468588	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058395	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2098116	0.82[EUR][1000 genomes]
rs210598	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs210600	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs210603	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2253711	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2533432	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2533434	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2533440	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533441	0.82[EUR][1000 genomes]
rs2533442	0.82[EUR][1000 genomes]
rs2533444	0.82[EUR][1000 genomes]
rs2533446	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533447	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533448	0.82[EUR][1000 genomes]
rs2533449	0.90[EUR][1000 genomes]
rs2533451	0.82[EUR][1000 genomes]
rs2533452	0.82[EUR][1000 genomes]
rs2533456	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2851485	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851488	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2851489	0.81[EUR][1000 genomes]
rs2851490	0.82[EUR][1000 genomes]
rs2851497	0.82[EUR][1000 genomes]
rs2851498	0.81[EUR][1000 genomes]
rs2851500	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851501	0.82[EUR][1000 genomes]
rs2851503	0.82[EUR][1000 genomes]
rs2851504	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2851505	0.80[EUR][1000 genomes]
rs2851506	0.82[EUR][1000 genomes]
rs2851507	0.82[EUR][1000 genomes]
rs2851508	0.82[EUR][1000 genomes]
rs2851509	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851510	0.82[EUR][1000 genomes]
rs2851511	0.82[EUR][1000 genomes]
rs2851512	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851517	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3886905	0.82[EUR][1000 genomes]
rs41851	0.83[ASN][1000 genomes]
rs41855	0.83[ASN][1000 genomes]
rs41858	0.83[ASN][1000 genomes]
rs4717521	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5005279	0.82[EUR][1000 genomes]
rs521259	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56302473	0.80[EUR][1000 genomes]
rs563740	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs588004	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60739014	0.83[ASN][1000 genomes]
rs608796	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs611052	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61135042	0.82[EUR][1000 genomes]
rs611573	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs622767	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs624626	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6460523	0.82[EUR][1000 genomes]
rs674865	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6955815	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6957302	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6959766	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6974004	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs720056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758680	0.84[AMR][1000 genomes]
rs7781403	0.83[ASN][1000 genomes]
rs7793984	0.85[ASN][1000 genomes]
rs917616	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9692258	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs981291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv428169	chr7:69021482-69196743	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69076200-69086800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:69076400-69087600	Weak transcription	Adipose Nuclei	Adipose
3	chr7:69076400-69095400	Weak transcription	Fetal Stomach	stomach
4	chr7:69079200-69087200	Weak transcription	Fetal Heart	heart
5	chr7:69079800-69085600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:69079800-69087200	Weak transcription	Brain Anterior Caudate	brain
7	chr7:69079800-69093600	Weak transcription	Brain Substantia Nigra	brain
8	chr7:69080000-69095200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:69080800-69086800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:69081800-69085400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr7:69082200-69086800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr7:69082200-69087600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr7:69082400-69085400	Enhancers	GM12878-XiMat	blood
14	chr7:69082600-69088400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
15	chr7:69082800-69085200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:69082800-69085800	Weak transcription	Fetal Brain Female	brain
17	chr7:69082800-69086600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:69082800-69087200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:69082800-69089600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:69083000-69086000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:69084000-69085400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:69084000-69085400	Enhancers	Brain Germinal Matrix	brain
23	chr7:69084000-69086200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:69084200-69085400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:69084200-69087600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:69084400-69085200	Enhancers	Ovary	ovary
27	chr7:69084400-69085200	Enhancers	Rectal Smooth Muscle	rectum
28	chr7:69084400-69085200	Enhancers	Stomach Smooth Muscle	stomach
29	chr7:69084400-69085800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:69084400-69087400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:69084600-69085200	Enhancers	Fetal Lung	lung
32	chr7:69084600-69085600	Weak transcription	Brain Angular Gyrus	brain
33	chr7:69084600-69085600	Enhancers	Fetal Kidney	kidney
34	chr7:69084600-69086000	Enhancers	Fetal Muscle Leg	muscle
35	chr7:69084600-69088600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:69084600-69089400	Weak transcription	Fetal Thymus	thymus
37	chr7:69084800-69085200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr7:69084800-69085200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:69084800-69085200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:69084800-69085600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:69084800-69085800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:69084800-69087600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:69084800-69087800	Weak transcription	Right Atrium	heart
44	chr7:69084800-69089400	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:69084800-69089600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:69085000-69085400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr7:69085000-69085600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
48	chr7:69085000-69086000	Enhancers	Brain Hippocampus Middle	brain
49	chr7:69085000-69086800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:69085000-69087200	Weak transcription	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links