Variant report

Variant	rs680660
Chromosome Location	chr11:72004714-72004715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72003308..72005316-chr11:72016996..72018605,2	MCF-7	breast:
2	chr11:72002678..72005236-chr11:72005421..72007553,2	K562	blood:
3	chr11:72003619..72005699-chr11:72141219..72144075,2	K562	blood:

Variant related genes	Relation type
ENSG00000162129	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12416804	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12418637	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12421674	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17162126	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2508201	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2508865	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3750906	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs474629	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs504217	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55721826	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56076328	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56171963	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58044536	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58945323	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61036532	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73528886	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73530718	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73530724	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7940062	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71993800-72004800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:71995600-72028000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:71997400-72004800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:71998000-72012200	Weak transcription	NH-A	brain
5	chr11:71999800-72005200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:72000200-72013600	Weak transcription	HUVEC	blood vessel
7	chr11:72000400-72008200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr11:72000400-72017200	Weak transcription	Fetal Brain Male	brain
9	chr11:72000600-72005000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:72001000-72039800	Weak transcription	Psoas Muscle	Psoas
11	chr11:72001200-72005200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:72001600-72005200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:72001600-72005200	Weak transcription	Hela-S3	cervix
14	chr11:72001600-72005400	Weak transcription	Fetal Intestine Large	intestine
15	chr11:72001600-72006000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:72001800-72005000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:72001800-72005600	Weak transcription	Colon Smooth Muscle	Colon
18	chr11:72001800-72010800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:72001800-72019200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:72001800-72032600	Weak transcription	A549	lung
21	chr11:72002000-72025400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr11:72002200-72008400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:72002200-72009200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:72002200-72010800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:72002200-72012400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:72002200-72025600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:72002600-72007400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:72002600-72013000	Weak transcription	HMEC	breast
29	chr11:72002600-72024000	Weak transcription	Small Intestine	intestine
30	chr11:72002800-72005200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:72002800-72006200	Weak transcription	Fetal Thymus	thymus
32	chr11:72002800-72011800	Weak transcription	Osteobl	bone
33	chr11:72002800-72012000	Weak transcription	Fetal Kidney	kidney
34	chr11:72002800-72025400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:72002800-72044600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr11:72003000-72005000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:72003000-72014800	Strong transcription	Fetal Intestine Small	intestine
38	chr11:72003000-72017000	Strong transcription	Fetal Stomach	stomach
39	chr11:72003200-72006200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr11:72003200-72006400	Strong transcription	NHLF	lung
41	chr11:72003200-72006800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:72003200-72006800	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr11:72003200-72007800	Strong transcription	Thymus	Thymus
44	chr11:72003200-72008000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:72003200-72008000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:72003200-72008800	Strong transcription	Spleen	Spleen
47	chr11:72003200-72009000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:72003200-72009000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:72003200-72009200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:72003200-72009200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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