Variant report

Variant	rs62154516
Chromosome Location	chr2:98423135-98423136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98422785..98423811-chr2:98885571..98886436,3	MCF-7	breast:
2	chr2:98423082..98423843-chr2:99001386..99002120,2	MCF-7	breast:
3	chr2:98422798..98423854-chr2:99001197..99002160,5	K562	blood:
4	chr2:98421847..98423499-chr2:98610815..98612996,2	MCF-7	breast:
5	chr2:98422884..98423763-chr2:98773660..98774512,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55804443	0.89[AFR][1000 genomes]
rs55853292	0.85[AFR][1000 genomes]
rs55887737	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs58415781	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58576615	0.80[AFR][1000 genomes]
rs61363543	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62154508	0.95[EUR][1000 genomes]
rs62154513	0.95[EUR][1000 genomes]
rs62154549	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62154552	0.85[EUR][1000 genomes]
rs62154553	0.85[EUR][1000 genomes]
rs62154555	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62154556	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62154558	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62156480	0.85[EUR][1000 genomes]
rs62156482	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62156488	0.85[AFR][1000 genomes]
rs62156509	0.83[AFR][1000 genomes]
rs62157630	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7420897	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7575922	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7606272	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS 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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:98399600-98429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:98402000-98423200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:98402400-98428600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
7	chr2:98406200-98427200	Weak transcription	K562	blood
8	chr2:98406400-98469200	Weak transcription	A549	lung
9	chr2:98409000-98425000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:98409200-98423600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:98409400-98423400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:98409400-98423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:98409400-98423600	Weak transcription	Psoas Muscle	Psoas
14	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
15	chr2:98409600-98429800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:98409800-98425000	Weak transcription	Fetal Brain Female	brain
17	chr2:98409800-98485000	Weak transcription	Hela-S3	cervix
18	chr2:98410000-98423400	Weak transcription	Right Ventricle	heart
19	chr2:98410000-98424800	Weak transcription	Brain Germinal Matrix	brain
20	chr2:98410000-98424800	Weak transcription	Esophagus	oesophagus
21	chr2:98410000-98425200	Weak transcription	Gastric	stomach
22	chr2:98410000-98425400	Weak transcription	Pancreas	Pancrea
23	chr2:98410000-98425800	Weak transcription	NH-A	brain
24	chr2:98410000-98427000	Weak transcription	Brain Angular Gyrus	brain
25	chr2:98410000-98427200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:98410000-98427200	Weak transcription	Brain Substantia Nigra	brain
27	chr2:98410000-98427400	Weak transcription	HSMMtube	muscle
28	chr2:98410000-98427800	Weak transcription	Spleen	Spleen
29	chr2:98410000-98435800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:98410000-98446000	Weak transcription	Colonic Mucosa	Colon
31	chr2:98410000-98456200	Weak transcription	Thymus	Thymus
32	chr2:98410000-98456800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:98410000-98456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:98410000-98457400	Weak transcription	Small Intestine	intestine
35	chr2:98410200-98427200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:98410800-98432000	Weak transcription	Fetal Intestine Small	intestine
37	chr2:98411000-98429200	Strong transcription	HSMM	muscle
38	chr2:98411400-98427200	Weak transcription	Fetal Brain Male	brain
39	chr2:98414200-98426200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:98414600-98423600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr2:98415200-98423400	Weak transcription	Fetal Heart	heart
42	chr2:98415200-98424800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:98415800-98423600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:98416200-98424800	Weak transcription	Aorta	Aorta
45	chr2:98416400-98425400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:98417800-98423600	Weak transcription	Fetal Stomach	stomach
47	chr2:98417800-98424000	Weak transcription	Lung	lung
48	chr2:98418000-98423400	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:98418200-98425200	Weak transcription	NHLF	lung
50	chr2:98418400-98424800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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