Variant report

Variant	rs3021526
Chromosome Location	chr9:100617021-100617022
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	chr9:100616472..100617973-chr9:100620292..100623040,2	K562	blood:
2	chr9:100614821..100616567-chr9:100616970..100619601,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178919	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10046805	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10113884	0.80[EUR][1000 genomes]
rs10119760	0.80[EUR][1000 genomes]
rs10119853	0.80[EUR][1000 genomes]
rs10120412	0.85[AMR][1000 genomes]
rs10122541	0.85[AMR][1000 genomes]
rs10123699	0.81[AMR][1000 genomes]
rs10759981	0.83[AMR][1000 genomes]
rs10818124	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10818133	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10818175	0.83[AMR][1000 genomes]
rs10983958	0.84[ASN][1000 genomes]
rs10983959	0.84[ASN][1000 genomes]
rs10984103	0.81[AMR][1000 genomes]
rs12341377	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12342417	0.81[AMR][1000 genomes]
rs12343182	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12347191	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12348304	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12348691	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13299924	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13302470	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1443434	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1443435	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1443436	0.83[AMR][1000 genomes]
rs1867277	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1867278	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1867280	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1955143	0.83[AMR][1000 genomes]
rs1955144	0.83[AMR][1000 genomes]
rs1955145	0.83[AMR][1000 genomes]
rs2401639	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2417575	0.85[AMR][1000 genomes]
rs2417576	0.85[AMR][1000 genomes]
rs3758248	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3758249	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3758251	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4297160	0.82[ASN][1000 genomes]
rs4460498	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6478437	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6478445	0.80[EUR][1000 genomes]
rs7033765	0.82[ASN][1000 genomes]
rs7037175	0.83[AMR][1000 genomes]
rs7045138	0.82[ASN][1000 genomes]
rs7851552	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7851660	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7860144	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7868534	0.80[AMR][1000 genomes]
rs894673	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs907577	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs925487	0.81[AMR][1000 genomes]
rs993501	0.80[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	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv6627	chr9:100576258-100621034	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv825000	chr9:100613121-100618319	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3330300	chr9:100613506-100618154	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3421459	chr9:100614656-100617704	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100613400-100618800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:100613600-100618000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:100613800-100617400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr9:100613800-100617800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr9:100614000-100617800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr9:100614000-100617800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:100615200-100617200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:100615600-100617200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:100615600-100617400	Active TSS	Hela-S3	cervix
10	chr9:100615800-100617200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr9:100616000-100617200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr9:100616000-100617200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
13	chr9:100616000-100617200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr9:100616000-100617200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:100616000-100617200	Flanking Bivalent TSS/Enh	Thymus	Thymus
16	chr9:100616200-100617200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
17	chr9:100616600-100617200	Bivalent Enhancer	Lung	lung
18	chr9:100616600-100617600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:100616600-100617600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr9:100616600-100617600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr9:100616600-100617600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
22	chr9:100616600-100617600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr9:100616800-100617200	Bivalent Enhancer	Primary B cells from cord blood	blood
24	chr9:100616800-100617200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
25	chr9:100616800-100617400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr9:100616800-100617400	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
27	chr9:100616800-100617400	Weak transcription	Pancreas	Pancrea
28	chr9:100616800-100617600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr9:100616800-100617600	ZNF genes & repeats	Spleen	Spleen
30	chr9:100616800-100618000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:100616800-100618400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr9:100617000-100617200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:100617000-100617400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
34	chr9:100617000-100617400	Bivalent/Poised TSS	Right Ventricle	heart
35	chr9:100617000-100617600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr9:100617000-100617600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:100617000-100617800	Flanking Active TSS	A549	lung
38	chr9:100617000-100618200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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