Variant report

Variant	rs647284
Chromosome Location	chr11:65180883-65180884
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	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FRMD8	hsa-miR-124-3p	chr11:65180876-65180893

Variant related genes	Relation type
ENSG00000251562	Chromatin interaction
ENSG00000270526	Chromatin interaction
ENSG00000173727	Chromatin interaction
ENSG00000270117	Chromatin interaction
FRMD8	miRNA target site

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11545201	1.00[MEX][hapmap]
rs2957274	1.00[MEX][hapmap]
rs4149835	1.00[MEX][hapmap]
rs4647564	1.00[MEX][hapmap]
rs4647578	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
8	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
10	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
11	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
12	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
13	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
14	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
15	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
16	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
17	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
18	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65157200-65182800	Weak transcription	Psoas Muscle	Psoas
2	chr11:65158600-65183200	Weak transcription	Fetal Brain Male	brain
3	chr11:65158600-65183400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:65158800-65183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:65158800-65183400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:65159000-65183800	Weak transcription	Fetal Kidney	kidney
7	chr11:65159200-65182000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:65159400-65181600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:65159400-65181800	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr11:65159400-65182200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:65159600-65181800	Strong transcription	Fetal Stomach	stomach
12	chr11:65159600-65183400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:65159800-65181800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:65159800-65183000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:65160800-65181800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:65161200-65181400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:65162800-65183400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:65170400-65183600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:65171200-65184200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:65171400-65183200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:65171800-65181800	Strong transcription	Lung	lung
22	chr11:65172200-65181600	Strong transcription	Colonic Mucosa	Colon
23	chr11:65172200-65181800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:65172400-65181800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr11:65172400-65181800	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:65172400-65181800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:65172400-65181800	Strong transcription	Thymus	Thymus
28	chr11:65172400-65182800	Strong transcription	Fetal Intestine Small	intestine
29	chr11:65172400-65182800	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr11:65172600-65183200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:65172800-65181400	Strong transcription	Fetal Thymus	thymus
32	chr11:65172800-65181600	Strong transcription	Placenta	Placenta
33	chr11:65172800-65181800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:65172800-65181800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:65172800-65181800	Strong transcription	Fetal Muscle Leg	muscle
36	chr11:65173000-65183400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:65173400-65181800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:65173400-65181800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:65173400-65182000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:65173400-65183400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:65173400-65183600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:65173600-65181600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:65174200-65181800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:65174400-65181600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr11:65174800-65181200	Strong transcription	Spleen	Spleen
46	chr11:65175600-65181600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:65175800-65181600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:65175800-65181600	Strong transcription	Liver	Liver
49	chr11:65175800-65181600	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:65175800-65181600	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links