Variant report

Variant	rs17022916
Chromosome Location	chr2:100312959-100312960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100311939..100313625-chr2:100322559..100325133,2	MCF-7	breast:
2	chr2:100311599..100313102-chr2:100315819..100318642,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11891106	1.00[AMR][1000 genomes]
rs17022903	0.86[AFR][1000 genomes]
rs17022905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17022922	0.89[AFR][1000 genomes]
rs28369921	1.00[AMR][1000 genomes]
rs28369931	1.00[AMR][1000 genomes]
rs28369951	1.00[AMR][1000 genomes]
rs6734477	1.00[AMR][1000 genomes]
rs6745784	1.00[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:34 , 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	chr2:100303600-100336800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:100305200-100318000	Weak transcription	Primary T cells from cord blood	blood
6	chr2:100306000-100313600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:100306000-100317200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:100307800-100313600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:100309000-100317200	Weak transcription	Esophagus	oesophagus
10	chr2:100309000-100317200	Weak transcription	Lung	lung
11	chr2:100309200-100313200	Weak transcription	Ovary	ovary
12	chr2:100309200-100320800	Weak transcription	Gastric	stomach
13	chr2:100309200-100323200	Weak transcription	Spleen	Spleen
14	chr2:100310800-100313600	Enhancers	Right Atrium	heart
15	chr2:100310800-100316000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:100310800-100323400	Strong transcription	Primary B cells from cord blood	blood
17	chr2:100311000-100317400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:100311000-100317600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:100311400-100313600	Weak transcription	Right Ventricle	heart
20	chr2:100311400-100315200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:100312000-100313000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:100312000-100313400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:100312000-100313600	Weak transcription	Aorta	Aorta
24	chr2:100312000-100320800	Weak transcription	Left Ventricle	heart
25	chr2:100312200-100313400	Weak transcription	Adipose Nuclei	Adipose
26	chr2:100312200-100317200	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:100312200-100318200	Weak transcription	Fetal Brain Male	brain
28	chr2:100312400-100313000	Enhancers	Fetal Lung	lung
29	chr2:100312400-100314600	Weak transcription	Fetal Heart	heart
30	chr2:100312400-100321800	Weak transcription	Fetal Brain Female	brain
31	chr2:100312800-100313600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:100312800-100314000	Weak transcription	Osteobl	bone
33	chr2:100312800-100314200	Weak transcription	NH-A	brain
34	chr2:100312800-100314600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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