Variant report

Variant	rs6970097
Chromosome Location	chr7:69224115-69224116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10487949	0.93[AMR][1000 genomes]
rs12164074	1.00[AMR][1000 genomes]
rs17140848	1.00[ASN][1000 genomes]
rs17140871	1.00[ASN][1000 genomes]
rs17141015	0.89[ASN][1000 genomes]
rs17349245	0.93[AMR][1000 genomes]
rs17353017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361399	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17361448	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17362481	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17362817	0.93[AMR][1000 genomes]
rs17457848	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17458533	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17459271	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17459369	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17459722	0.93[AMR][1000 genomes]
rs2158741	0.93[AMR][1000 genomes]
rs2191824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270162	1.00[JPT][hapmap]
rs4140975	0.94[ASN][1000 genomes]
rs55638715	0.93[AMR][1000 genomes]
rs58305621	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58974518	0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59797025	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6460529	0.84[ASN][1000 genomes]
rs6460531	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6968472	0.93[AMR][1000 genomes]
rs6975213	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7781686	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7790458	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3394718	chr7:69194534-69238432	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1027399	chr7:69197011-69239721	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv538918	chr7:69197011-69239721	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69217000-69224600	Enhancers	Fetal Thymus	thymus
2	chr7:69217200-69224200	Enhancers	Thymus	Thymus
3	chr7:69217400-69237400	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:69218800-69224400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:69219200-69233600	Weak transcription	Left Ventricle	heart
6	chr7:69219600-69224400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:69219600-69229400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:69220000-69227400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:69220800-69224200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:69221000-69224200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:69221400-69228400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:69221800-69229600	Weak transcription	Fetal Brain Male	brain
13	chr7:69222800-69224400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:69222800-69224400	Enhancers	GM12878-XiMat	blood
15	chr7:69223000-69226200	Weak transcription	Brain Angular Gyrus	brain
16	chr7:69223200-69224200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr7:69223200-69226800	Weak transcription	Brain Substantia Nigra	brain
18	chr7:69223200-69229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:69223200-69234000	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:69223400-69226200	Weak transcription	Brain Germinal Matrix	brain
21	chr7:69223400-69226400	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:69223400-69228400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:69223400-69228800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:69223400-69229000	Weak transcription	Ovary	ovary
25	chr7:69223400-69234000	Weak transcription	Brain Anterior Caudate	brain
26	chr7:69223600-69224400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:69223600-69226000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:69223600-69226000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:69223600-69228800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr7:69223800-69226000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:69223800-69226000	Weak transcription	Fetal Stomach	stomach
32	chr7:69223800-69226200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:69223800-69226400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:69223800-69233800	Weak transcription	Fetal Lung	lung
35	chr7:69224000-69224200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:69224000-69224200	Enhancers	Fetal Brain Female	brain
37	chr7:69224000-69226600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr7:69224000-69226600	Weak transcription	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links