Variant report

Variant	rs17022373
Chromosome Location	chr2:98407168-98407169
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98400697..98404304-chr2:98404392..98407609,3	K562	blood:
2	chr2:98406044..98408810-chr2:98414530..98416277,2	MCF-7	breast:
3	chr2:98397492..98399885-chr2:98406316..98408049,2	K562	blood:
4	chr2:98405072..98407571-chr2:98410934..98413172,2	K562	blood:
5	chr2:98403775..98408047-chr2:98409858..98412434,3	K562	blood:

Variant related genes	Relation type
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1026015	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1446326	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022568	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022581	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022797	1.00[EUR][1000 genomes]
rs17022803	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17023420	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17025147	0.85[EUR][1000 genomes]
rs17025319	1.00[CEU][hapmap]
rs2309314	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61729688	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6704792	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6726775	1.00[ASW][hapmap]
rs6748814	1.00[EUR][1000 genomes]
rs72942819	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:98370600-98407600	Weak transcription	HUVEC	blood vessel
3	chr2:98377400-98408000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:98377400-98410600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:98383000-98408600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:98383200-98408800	Weak transcription	Fetal Brain Male	brain
9	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:98387800-98408000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:98387800-98408000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:98388000-98407800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:98388000-98408600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:98389000-98408200	Weak transcription	NH-A	brain
16	chr2:98390200-98407600	Weak transcription	Psoas Muscle	Psoas
17	chr2:98390200-98408000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:98391400-98408000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:98392200-98407600	Weak transcription	NHLF	lung
20	chr2:98392200-98409200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:98392400-98407600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:98392400-98407800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:98392400-98407800	Weak transcription	Brain Angular Gyrus	brain
24	chr2:98392400-98407800	Weak transcription	HSMMtube	muscle
25	chr2:98392400-98408800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:98392400-98415600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:98392400-98418600	Weak transcription	Fetal Kidney	kidney
28	chr2:98392600-98407400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr2:98392600-98408000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:98393800-98407800	Weak transcription	Brain Anterior Caudate	brain
31	chr2:98393800-98409000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:98394200-98415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:98396200-98408000	Weak transcription	NHEK	skin
34	chr2:98398800-98407600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:98398800-98421000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:98399000-98409200	Weak transcription	Small Intestine	intestine
37	chr2:98399600-98429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr2:98401400-98422600	Strong transcription	Primary B cells from cord blood	blood
39	chr2:98401600-98422400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:98402000-98411600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:98402000-98416600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:98402000-98423200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:98402200-98412000	Strong transcription	Fetal Intestine Large	intestine
45	chr2:98402200-98422200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr2:98402200-98422600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:98402400-98410000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:98402400-98410000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:98402400-98410000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr2:98402400-98410000	Strong transcription	Stomach Smooth Muscle	stomach

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