Variant report

Variant	rs17716597
Chromosome Location	chr2:100311777-100311778
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	chr2:100311599..100313102-chr2:100315819..100318642,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17023031	0.83[EUR][1000 genomes]
rs17351403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17351500	0.85[AMR][1000 genomes]
rs17436026	0.85[AMR][1000 genomes]
rs17436483	0.85[AMR][1000 genomes]
rs17436511	0.85[AMR][1000 genomes]
rs17436594	0.85[AMR][1000 genomes]
rs17436615	0.85[AMR][1000 genomes]
rs17436656	0.85[AMR][1000 genomes]
rs17436719	0.85[AMR][1000 genomes]
rs17436761	0.85[AMR][1000 genomes]
rs17436782	0.85[AMR][1000 genomes]
rs17783548	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs34454377	0.85[AMR][1000 genomes]
rs62147619	0.85[AMR][1000 genomes]
rs62147620	0.85[AMR][1000 genomes]
rs62147621	0.85[AMR][1000 genomes]
rs62150080	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62150082	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62150083	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62156490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156493	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156494	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156495	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156497	0.96[EUR][1000 genomes]
rs62156498	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62156500	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs940459	0.85[AMR][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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100264000-100328600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:100286600-100336800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:100294600-100318400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100295600-100311800	Weak transcription	Fetal Brain Female	brain
5	chr2:100297000-100312400	Weak transcription	Fetal Lung	lung
6	chr2:100303600-100336800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:100305200-100318000	Weak transcription	Primary T cells from cord blood	blood
8	chr2:100306000-100313600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:100306000-100317200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:100307800-100313600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr2:100309000-100317200	Weak transcription	Esophagus	oesophagus
12	chr2:100309000-100317200	Weak transcription	Lung	lung
13	chr2:100309200-100313200	Weak transcription	Ovary	ovary
14	chr2:100309200-100320800	Weak transcription	Gastric	stomach
15	chr2:100309200-100323200	Weak transcription	Spleen	Spleen
16	chr2:100310600-100312200	Enhancers	Fetal Muscle Leg	muscle
17	chr2:100310600-100312400	Enhancers	Fetal Heart	heart
18	chr2:100310800-100312000	Enhancers	Left Ventricle	heart
19	chr2:100310800-100313600	Enhancers	Right Atrium	heart
20	chr2:100310800-100316000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:100310800-100323400	Strong transcription	Primary B cells from cord blood	blood
22	chr2:100311000-100317400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:100311000-100317600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:100311200-100312000	Weak transcription	NH-A	brain
25	chr2:100311200-100312800	Enhancers	Osteobl	bone
26	chr2:100311400-100312200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:100311400-100312200	Enhancers	Fetal Muscle Trunk	muscle
28	chr2:100311400-100313600	Weak transcription	Right Ventricle	heart
29	chr2:100311400-100315200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:100311600-100311800	Enhancers	Placenta	Placenta
31	chr2:100311600-100312200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:100311600-100312200	Enhancers	Adipose Nuclei	Adipose
33	chr2:100311600-100312200	Enhancers	Brain Germinal Matrix	brain
34	chr2:100311600-100312200	Enhancers	Fetal Brain Male	brain
35	chr2:100311600-100312800	Enhancers	HSMMtube	muscle

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