Variant report

Variant	rs17131149
Chromosome Location	chr1:70508032-70508033
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70500723..70504696-chr1:70505322..70508157,4	K562	blood:
2	chr1:70504669..70508313-chr1:70509431..70511799,3	K562	blood:
3	chr1:70506553..70508330-chr1:70513862..70516733,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10493462	1.00[EUR][1000 genomes]
rs12079486	1.00[EUR][1000 genomes]
rs12084223	1.00[EUR][1000 genomes]
rs17131144	1.00[EUR][1000 genomes]
rs17131147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131173	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131175	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131185	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131195	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131197	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131198	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2068176	1.00[EUR][1000 genomes]
rs57557771	1.00[EUR][1000 genomes]
rs58361762	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59352671	1.00[EUR][1000 genomes]
rs6681058	1.00[EUR][1000 genomes]
rs72915800	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917803	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917809	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72926213	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72929205	1.00[EUR][1000 genomes]
rs72929247	1.00[EUR][1000 genomes]
rs72929251	1.00[EUR][1000 genomes]
rs72929256	1.00[EUR][1000 genomes]
rs72943268	1.00[EUR][1000 genomes]
rs72943277	1.00[EUR][1000 genomes]
rs72943286	1.00[EUR][1000 genomes]
rs72945223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72945229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72945237	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72945240	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74088023	1.00[EUR][1000 genomes]
rs74088028	1.00[EUR][1000 genomes]
rs970938	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs970939	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv461795	chr1:70475794-70551339	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546453	chr1:70475794-70551339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv461806	chr1:70494216-70566981	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv546454	chr1:70494216-70566981	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70464800-70509000	Weak transcription	Brain Angular Gyrus	brain
2	chr1:70479400-70515600	Weak transcription	Fetal Brain Male	brain
3	chr1:70501000-70509400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:70504000-70509800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:70504200-70508200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:70504200-70509400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:70504200-70509600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:70504400-70509200	Weak transcription	HMEC	breast
9	chr1:70504400-70509400	Weak transcription	Osteobl	bone
10	chr1:70504400-70509600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:70504400-70509600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:70504600-70508200	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:70505000-70549400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:70505200-70509600	Weak transcription	Fetal Stomach	stomach
15	chr1:70505400-70512800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:70505400-70536200	Weak transcription	Fetal Brain Female	brain
17	chr1:70506000-70536400	Weak transcription	Brain Germinal Matrix	brain
18	chr1:70506400-70508400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr1:70507000-70510800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:70507200-70508400	Enhancers	Brain Anterior Caudate	brain
21	chr1:70507200-70508600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:70507200-70510000	Enhancers	HSMMtube	muscle
23	chr1:70507400-70508200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:70507400-70508400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:70507400-70508400	Flanking Active TSS	K562	blood
26	chr1:70507400-70509200	Enhancers	Fetal Heart	heart
27	chr1:70507800-70508400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:70507800-70508400	Enhancers	HSMM	muscle
29	chr1:70508000-70508200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:70508000-70508200	Enhancers	Muscle Satellite Cultured Cells	--

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