Variant report

Variant	rs60665865
Chromosome Location	chr2:11968411-11968412
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11964399..11966822-chr2:11968206..11970733,4	K562	blood:
2	chr2:11967833..11971284-chr2:12088713..12091572,3	K562	blood:
3	chr2:11967830..11972620-chr2:11972845..11976949,6	K562	blood:
4	chr2:11967830..11971091-chr2:11972845..11976949,4	K562	blood:
5	chr2:11964536..11966144-chr2:11966996..11970850,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10495584	0.81[EUR][1000 genomes]
rs11524	0.95[ASN][1000 genomes]
rs1370547	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57450916	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs59217232	0.81[EUR][1000 genomes]
rs59466442	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72493341	0.81[EUR][1000 genomes]
rs73189040	0.81[EUR][1000 genomes]
rs73189043	0.81[EUR][1000 genomes]
rs73189045	0.81[EUR][1000 genomes]
rs73191098	0.89[AFR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 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	chr2:11919800-11968800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr2:11925200-11968600	Strong transcription	NHLF	lung
3	chr2:11925800-11968600	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr2:11937000-11968800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:11941200-11968600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:11946200-11969200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:11951600-11968600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:11956200-11969400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:11956600-11969400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:11956600-11969600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:11958200-11969200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:11959200-11968800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:11959600-11968600	Strong transcription	Primary T cells from cord blood	blood
14	chr2:11959600-11968600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:11960000-11968600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:11960400-11969400	Weak transcription	Aorta	Aorta
17	chr2:11960400-11969800	Weak transcription	Psoas Muscle	Psoas
18	chr2:11960800-11968600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:11960800-11969200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:11960800-11969200	Weak transcription	NH-A	brain
21	chr2:11960800-11969600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:11961200-11969000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:11961400-11969200	Weak transcription	Fetal Brain Male	brain
24	chr2:11961400-11969400	Weak transcription	Fetal Kidney	kidney
25	chr2:11962000-11969200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:11962200-11969600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:11962400-11969000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:11963400-11968600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:11963400-11969400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr2:11965000-11969200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:11965000-11969200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:11965000-11969400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:11965200-11968600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:11965200-11969000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:11965200-11969200	Weak transcription	Brain Angular Gyrus	brain
36	chr2:11965400-11969200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:11965400-11969200	Weak transcription	Esophagus	oesophagus
38	chr2:11965400-11969200	Weak transcription	Right Ventricle	heart
39	chr2:11965400-11969200	Weak transcription	Stomach Mucosa	stomach
40	chr2:11965400-11969200	Weak transcription	Spleen	Spleen
41	chr2:11965400-11969400	Weak transcription	Gastric	stomach
42	chr2:11965400-11969600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:11965400-11969600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:11965400-11969600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:11965400-11969600	Weak transcription	HSMM	muscle
46	chr2:11965600-11968600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:11965600-11969400	Weak transcription	Right Atrium	heart
48	chr2:11965600-11969600	Weak transcription	Colonic Mucosa	Colon
49	chr2:11965600-11969600	Weak transcription	Left Ventricle	heart
50	chr2:11965800-11969000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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