Variant report

Variant	rs1008379
Chromosome Location	chr7:69306139-69306140
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	chr7:69305548..69307100-chr7:69308617..69310960,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10085775	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1014382	0.80[ASN][1000 genomes]
rs1014417	0.81[EUR][1000 genomes]
rs10237145	0.84[ASN][1000 genomes]
rs10241485	0.84[ASN][1000 genomes]
rs10259748	0.80[EUR][1000 genomes]
rs11765886	0.82[ASN][1000 genomes]
rs12698812	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12698814	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12698815	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12698820	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12698826	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12698838	0.81[ASN][1000 genomes]
rs12698841	0.81[ASN][1000 genomes]
rs12698843	0.80[ASN][1000 genomes]
rs12698846	0.80[ASN][1000 genomes]
rs12698847	0.80[ASN][1000 genomes]
rs12698850	0.80[ASN][1000 genomes]
rs13228464	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13231497	0.81[ASN][1000 genomes]
rs13232095	0.91[ASN][1000 genomes]
rs13236841	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13242485	0.81[ASN][1000 genomes]
rs1476104	0.80[ASN][1000 genomes]
rs17140933	0.81[EUR][1000 genomes]
rs17353815	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17365011	0.84[ASN][1000 genomes]
rs17365333	0.80[ASN][1000 genomes]
rs17458097	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2058395	0.84[ASN][1000 genomes]
rs210598	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs210600	0.84[ASN][1000 genomes]
rs210603	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2159679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2533432	0.80[ASN][1000 genomes]
rs2851488	0.80[ASN][1000 genomes]
rs2851517	0.80[ASN][1000 genomes]
rs2903097	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34221396	0.81[EUR][1000 genomes]
rs34249708	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35322474	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4717521	0.84[ASN][1000 genomes]
rs521259	0.84[ASN][1000 genomes]
rs55990156	0.81[EUR][1000 genomes]
rs563740	0.80[ASN][1000 genomes]
rs585282	0.82[JPT][hapmap]
rs588004	0.80[ASN][1000 genomes]
rs595681	0.80[JPT][hapmap]
rs60739014	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs608796	0.88[ASN][1000 genomes]
rs610930	0.80[JPT][hapmap]
rs611052	0.80[ASN][1000 genomes]
rs611573	0.80[ASN][1000 genomes]
rs622767	0.88[ASN][1000 genomes]
rs624626	0.80[ASN][1000 genomes]
rs674865	0.80[ASN][1000 genomes]
rs6943610	0.80[ASN][1000 genomes]
rs6955815	0.84[ASN][1000 genomes]
rs6959766	0.88[ASN][1000 genomes]
rs6963101	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6963882	0.80[EUR][1000 genomes]
rs6974004	0.84[ASN][1000 genomes]
rs6980307	0.80[EUR][1000 genomes]
rs735060	0.80[ASN][1000 genomes]
rs763759	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7779308	0.81[ASN][1000 genomes]
rs7781403	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7790084	0.80[ASN][1000 genomes]
rs7793984	0.84[ASN][1000 genomes]
rs7796592	0.83[ASN][1000 genomes]
rs7801117	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs7808773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809145	0.81[EUR][1000 genomes]
rs917616	0.80[ASN][1000 genomes]
rs9332399	0.83[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs9638575	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9638582	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv532781	chr7:69297250-69330796	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv538919	chr7:69298265-69311376	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69293600-69310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:69299000-69306800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:69299000-69306800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:69300200-69306600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:69300800-69306400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:69301400-69306800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:69301600-69306800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:69301800-69306600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:69301800-69306600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:69302000-69306400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:69302000-69306800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:69302200-69306600	Enhancers	Brain Germinal Matrix	brain
13	chr7:69302800-69306800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr7:69303000-69310600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:69303200-69306800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:69303800-69306400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr7:69304000-69306400	Enhancers	Brain Substantia Nigra	brain
18	chr7:69304000-69311600	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:69304200-69306600	Enhancers	Brain Angular Gyrus	brain
20	chr7:69304400-69306200	Enhancers	Primary B cells from cord blood	blood
21	chr7:69304600-69306200	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:69304600-69306400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:69304600-69306400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:69304600-69306600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:69304600-69306600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr7:69304600-69306600	Enhancers	Brain Hippocampus Middle	brain
27	chr7:69304600-69306600	Enhancers	Fetal Brain Female	brain
28	chr7:69304800-69306400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:69304800-69306600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr7:69304800-69306600	Enhancers	Ovary	ovary
31	chr7:69305000-69306200	Weak transcription	Fetal Brain Male	brain
32	chr7:69305200-69312800	Weak transcription	Dnd41	blood
33	chr7:69305400-69306400	Enhancers	Fetal Lung	lung
34	chr7:69305600-69306600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:69305600-69306600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:69305600-69307600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:69305600-69310600	Weak transcription	Brain Anterior Caudate	brain
38	chr7:69305800-69306200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:69305800-69306200	Enhancers	GM12878-XiMat	blood
40	chr7:69305800-69306400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:69305800-69306800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:69306000-69306200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:69306000-69306400	Enhancers	Adipose Nuclei	Adipose
44	chr7:69306000-69306600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:69306000-69306600	Enhancers	Fetal Heart	heart
46	chr7:69306000-69310400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links