Variant report

Variant	rs629654
Chromosome Location	chr5:15544838-15544839
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:15542930..15547234-chr5:15550922..15554714,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10041362	0.82[AFR][1000 genomes]
rs1529487	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs512861	0.87[AMR][1000 genomes]
rs532005	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs609984	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs623156	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs633807	0.83[AFR][1000 genomes]
rs652985	0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs683393	1.00[GIH][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap]
rs685706	0.90[AFR][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	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15512200-15571200	Weak transcription	HUVEC	blood vessel
2	chr5:15518800-15547400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:15524000-15558600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:15533800-15547400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:15534200-15550200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:15534400-15550600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:15536400-15561400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:15536600-15547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:15538200-15547000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:15539000-15547400	Weak transcription	Fetal Stomach	stomach
11	chr5:15539400-15547600	Weak transcription	Brain Substantia Nigra	brain
12	chr5:15539600-15547600	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:15539600-15549800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:15539800-15547200	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:15539800-15551200	Weak transcription	Fetal Brain Female	brain
16	chr5:15540600-15555000	Weak transcription	HSMMtube	muscle
17	chr5:15540800-15554600	Weak transcription	HSMM	muscle
18	chr5:15541000-15558600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:15541400-15550800	Weak transcription	Fetal Brain Male	brain
20	chr5:15542400-15545600	Enhancers	Fetal Heart	heart
21	chr5:15542800-15545400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr5:15543000-15545000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:15543200-15545200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:15543400-15545000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:15543400-15545000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:15543400-15545000	Enhancers	Ovary	ovary
27	chr5:15543400-15545000	Enhancers	Right Atrium	heart
28	chr5:15543400-15545200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:15543400-15545400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:15543600-15545000	Enhancers	Brain Anterior Caudate	brain
31	chr5:15543800-15545000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:15543800-15545000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:15544000-15545000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr5:15544000-15545400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:15544000-15547200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:15544000-15548000	Weak transcription	Brain Angular Gyrus	brain
37	chr5:15544000-15550400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:15544200-15546600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:15544200-15549200	Weak transcription	Brain Germinal Matrix	brain
40	chr5:15544200-15550400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:15544400-15549800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr5:15544400-15550000	Weak transcription	Esophagus	oesophagus
43	chr5:15544600-15545000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr5:15544600-15547000	Weak transcription	Left Ventricle	heart
45	chr5:15544600-15547200	Weak transcription	Right Ventricle	heart
46	chr5:15544600-15563400	Weak transcription	Colon Smooth Muscle	Colon
47	chr5:15544800-15545200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:15544800-15547800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:15544800-15549000	Weak transcription	Aorta	Aorta

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