Variant report

Variant	rs326220
Chromosome Location	chr11:47280010-47280011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr11:47279949-47280361	K562	blood:	n/a	n/a
2	NR2F2	chr11:47279433-47280465	K562	blood:	n/a	n/a
3	CTCF	chr11:47279245-47280031	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr11:47280000-47280150	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr11:47279900-47280050	HVMF	connective:	n/a	n/a
6	RAD21	chr11:47278939-47280017	SK-N-SH	brain:	n/a	n/a
7	MAX	chr11:47279913-47280425	K562	blood:	n/a	n/a
8	CTCF	chr11:47279960-47280110	AoAF	blood vessel:	n/a	n/a
9	BHLHE40	chr11:47279903-47280304	K562	blood:	n/a	n/a
10	POLR2A	chr11:47278832-47280214	K562	blood:	n/a	n/a
11	CTCF	chr11:47278588-47281976	A549	lung:	n/a	chr11:47278969-47278982
12	SMARCC1	chr11:47278643-47280119	Hela-S3	cervix:	n/a	n/a
13	SMARCB1	chr11:47278799-47280012	Hela-S3	cervix:	n/a	n/a
14	SMC3	chr11:47279011-47280065	SK-N-SH	brain:	n/a	n/a
15	MAZ	chr11:47278807-47280171	IMR90	lung:	n/a	chr11:47279428-47279438
16	HCFC1	chr11:47278486-47281950	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr11:47279830-47280335	K562	blood:	n/a	n/a
18	CTCF	chr11:47279417-47280237	K562	blood:	n/a	n/a
19	CTCF	chr11:47280000-47280150	HCM	heart:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:47197631..47199665-chr11:47279516..47282212,2	K562	blood:
2	chr11:47196892..47202921-chr11:47278417..47285951,9	MCF-7	breast:
3	chr11:47279843..47284326-chr11:47288675..47293634,16	MCF-7	breast:
4	chr11:47265054..47272453-chr11:47272862..47282933,17	MCF-7	breast:
5	chr11:47205592..47209017-chr11:47278399..47281373,5	MCF-7	breast:
6	chr11:47268496..47273681-chr11:47277782..47283365,10	K562	blood:
7	chr11:47277979..47283267-chr11:47289057..47293509,9	K562	blood:
8	chr11:47267134..47271941-chr11:47277592..47282899,11	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MADD-2	chr11:47279547-47280057	NONHSAT021221

No data

Variant related genes	Relation type
NR1H3	TF binding region
ENSG00000110514	Chromatin interaction
ENSG00000165912	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000149182	Chromatin interaction
ENSG00000256746	Chromatin interaction
ENSG00000134575	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11570069	1.00[AMR][1000 genomes]
rs11570110	1.00[AMR][1000 genomes]
rs167824	1.00[AFR][1000 genomes]
rs2922978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs326221	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer 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	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47271000-47280800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:47271400-47281000	Weak transcription	Thymus	Thymus
3	chr11:47271400-47281200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr11:47271400-47281200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:47271400-47281200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr11:47271400-47281200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr11:47272400-47286400	Weak transcription	Dnd41	blood
8	chr11:47275800-47286800	Weak transcription	Primary T cells from cord blood	blood
9	chr11:47276800-47280800	Weak transcription	HSMMtube	muscle
10	chr11:47277000-47282000	Weak transcription	Spleen	Spleen
11	chr11:47278600-47280200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr11:47278600-47280200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:47278600-47280400	Enhancers	Small Intestine	intestine
14	chr11:47278600-47281600	Enhancers	Fetal Heart	heart
15	chr11:47278600-47282000	Flanking Active TSS	Hela-S3	cervix
16	chr11:47278800-47280200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr11:47278800-47280200	Flanking Active TSS	Colonic Mucosa	Colon
18	chr11:47278800-47280200	Flanking Active TSS	Fetal Muscle Trunk	muscle
19	chr11:47278800-47280200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr11:47278800-47280200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr11:47278800-47281000	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr11:47278800-47281600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:47278800-47281600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:47278800-47282000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:47278800-47282200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:47278800-47282200	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr11:47279000-47280200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:47279000-47280200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr11:47279000-47280200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:47279000-47280200	Flanking Active TSS	Placenta	Placenta
31	chr11:47279000-47280200	Flanking Active TSS	Left Ventricle	heart
32	chr11:47279000-47280200	Flanking Active TSS	K562	blood
33	chr11:47279000-47280200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr11:47279000-47280400	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr11:47279000-47280400	Flanking Active TSS	Fetal Stomach	stomach
36	chr11:47279000-47280400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr11:47279000-47281600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr11:47279000-47281600	Enhancers	NH-A	brain
39	chr11:47279200-47280200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr11:47279200-47280200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr11:47279200-47280200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:47279200-47280200	Flanking Active TSS	Lung	lung
43	chr11:47279200-47280400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:47279200-47280600	Active TSS	Fetal Kidney	kidney
45	chr11:47279200-47288800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:47279400-47280200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:47279400-47280200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:47279400-47280200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr11:47279400-47280200	Active TSS	Psoas Muscle	Psoas
50	chr11:47279400-47280400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links