Variant report

Variant	rs4916008
Chromosome Location	chr1:65318507-65318508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:65318376-65318618	A549	lung:	n/a	n/a
2	POLR2A	chr1:65318426-65318649	K562	blood:	n/a	n/a
3	POLR2A	chr1:65317962-65318664	A549	lung:	n/a	n/a
4	POLR2A	chr1:65318281-65318607	K562	blood:	n/a	n/a
5	POLR2A	chr1:65317987-65318628	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr1:65317086-65321175	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:65317871..65320594-chr1:65322272..65324384,2	K562	blood:

Variant related genes	Relation type
JAK1	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12121669	0.83[ASN][1000 genomes]
rs12406400	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17097146	0.88[CHB][hapmap]
rs17127090	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17127107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17127117	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2230587	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2274947	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3762311	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3790535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3790541	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4916003	0.80[CEU][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55869683	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61784686	0.83[ASN][1000 genomes]
rs72918100	0.81[ASN][1000 genomes]
rs72920202	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7540450	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394469	chr1:65113594-65331699	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1006149	chr1:65304470-65328639	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1001048	chr1:65304879-65328639	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv525227	chr1:65309387-65368042	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1011697	chr1:65311262-65335445	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:65290000-65327000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:65290000-65327200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:65294800-65327600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:65295000-65331000	Strong transcription	Fetal Intestine Large	intestine
5	chr1:65295200-65326000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:65295400-65322200	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:65295400-65326400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:65296000-65322000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:65296000-65329600	Strong transcription	Primary T cells from cord blood	blood
10	chr1:65296200-65324000	Weak transcription	Fetal Heart	heart
11	chr1:65296600-65326000	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:65296600-65329800	Strong transcription	Fetal Thymus	thymus
13	chr1:65297200-65327400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:65297200-65329600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:65297400-65326000	Strong transcription	Left Ventricle	heart
16	chr1:65297400-65328600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:65297600-65327400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr1:65297600-65330200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:65297800-65327600	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:65298400-65329600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:65298400-65329600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:65298600-65327400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:65298600-65329000	Strong transcription	Lung	lung
24	chr1:65298600-65341400	Strong transcription	Thymus	Thymus
25	chr1:65300400-65327200	Strong transcription	Spleen	Spleen
26	chr1:65300600-65330400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:65300800-65331800	Strong transcription	Fetal Intestine Small	intestine
28	chr1:65300800-65340200	Strong transcription	Fetal Stomach	stomach
29	chr1:65301400-65330200	Strong transcription	NHLF	lung
30	chr1:65301800-65327800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:65302000-65326800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:65302000-65330200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:65303200-65320800	Weak transcription	Psoas Muscle	Psoas
34	chr1:65303200-65324000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:65303400-65322200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:65303400-65330800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:65304200-65324600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:65304400-65319000	Weak transcription	Fetal Brain Male	brain
39	chr1:65305800-65325400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:65305800-65327000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr1:65306000-65327200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:65306800-65324200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:65306800-65327200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:65307000-65327200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:65307600-65331000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:65308400-65328000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr1:65308600-65326000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:65308600-65328400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:65308600-65331000	Strong transcription	HSMMtube	muscle
50	chr1:65308600-65342800	Strong transcription	Dnd41	blood

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