Variant report

Variant	rs633807
Chromosome Location	chr5:15523633-15523634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10041362	0.88[AFR][1000 genomes]
rs10059008	1.00[EUR][1000 genomes]
rs10063263	1.00[EUR][1000 genomes]
rs10077393	1.00[EUR][1000 genomes]
rs11133817	1.00[EUR][1000 genomes]
rs13356380	1.00[EUR][1000 genomes]
rs1529487	1.00[EUR][1000 genomes]
rs16903864	1.00[EUR][1000 genomes]
rs16903892	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs188592	1.00[EUR][1000 genomes]
rs2402164	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28713425	1.00[EUR][1000 genomes]
rs28716171	1.00[EUR][1000 genomes]
rs2896211	1.00[EUR][1000 genomes]
rs304557	1.00[EUR][1000 genomes]
rs304559	1.00[EUR][1000 genomes]
rs304560	1.00[EUR][1000 genomes]
rs304561	1.00[EUR][1000 genomes]
rs304562	1.00[EUR][1000 genomes]
rs4701626	1.00[EUR][1000 genomes]
rs4701628	1.00[EUR][1000 genomes]
rs4701629	1.00[EUR][1000 genomes]
rs4702074	1.00[EUR][1000 genomes]
rs4702075	1.00[EUR][1000 genomes]
rs4702077	1.00[EUR][1000 genomes]
rs512861	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs532005	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs572051	1.00[EUR][1000 genomes]
rs575014	1.00[EUR][1000 genomes]
rs57991493	1.00[EUR][1000 genomes]
rs598853	1.00[EUR][1000 genomes]
rs609984	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs623156	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs629654	0.83[AFR][1000 genomes]
rs652985	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6554885	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs683393	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs685706	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751952	1.00[EUR][1000 genomes]
rs73751955	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709371	1.00[EUR][1000 genomes]
rs7717617	1.00[EUR][1000 genomes]
rs9312884	1.00[EUR][1000 genomes]
rs9312886	1.00[EUR][1000 genomes]
rs9968651	1.00[EUR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15501800-15523800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:15502600-15535400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:15511200-15527400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:15512200-15524600	Weak transcription	HSMM	muscle
5	chr5:15512200-15571200	Weak transcription	HUVEC	blood vessel
6	chr5:15515200-15526600	Weak transcription	Ovary	ovary
7	chr5:15515200-15532800	Weak transcription	Aorta	Aorta
8	chr5:15515600-15525000	Weak transcription	Psoas Muscle	Psoas
9	chr5:15517600-15526200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:15518800-15547400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:15519000-15532800	Weak transcription	Esophagus	oesophagus
12	chr5:15520000-15526800	Weak transcription	Dnd41	blood
13	chr5:15521000-15524400	Enhancers	Brain Hippocampus Middle	brain
14	chr5:15521800-15525000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:15522000-15528200	Weak transcription	Fetal Kidney	kidney
16	chr5:15522000-15538600	Weak transcription	Adipose Nuclei	Adipose
17	chr5:15522200-15523800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr5:15522200-15525000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:15522400-15525600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:15522400-15525600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:15522400-15525600	Weak transcription	Right Ventricle	heart
22	chr5:15522400-15526200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:15522600-15525000	Weak transcription	Right Atrium	heart
24	chr5:15522600-15525600	Weak transcription	Osteobl	bone
25	chr5:15522600-15525800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr5:15522600-15526400	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:15522600-15532800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:15522800-15524800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:15522800-15525600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:15522800-15525600	Weak transcription	Brain Anterior Caudate	brain
31	chr5:15522800-15525600	Weak transcription	NHDF-Ad	bronchial
32	chr5:15522800-15525800	Weak transcription	NHLF	lung
33	chr5:15522800-15526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:15522800-15526000	Weak transcription	Brain Substantia Nigra	brain
35	chr5:15522800-15532800	Weak transcription	HSMMtube	muscle
36	chr5:15522800-15535200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr5:15522800-15535400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr5:15522800-15538000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr5:15523000-15524600	Enhancers	Fetal Heart	heart
40	chr5:15523000-15525600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:15523000-15526000	Weak transcription	Brain Angular Gyrus	brain
42	chr5:15523000-15526400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:15523000-15532800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:15523000-15533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:15523000-15537800	Weak transcription	Fetal Stomach	stomach
46	chr5:15523200-15531000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:15523200-15535600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr5:15523400-15523800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:15523600-15523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:15523600-15524000	Enhancers	Fetal Muscle Leg	muscle

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