Variant report

Variant	rs72910057
Chromosome Location	chr11:46331362-46331363
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46331298-46331779	K562	blood:	n/a	n/a
2	CTCF	chr11:46331340-46331490	GM12870	blood:	n/a	n/a
3	EBF1	chr11:46331359-46331721	GM12878	blood:	n/a	n/a
4	SPI1	chr11:46331201-46331794	HL-60	blood:	n/a	n/a
5	POLR2A	chr11:46331217-46331848	U87	brain:	n/a	n/a
6	JUN	chr11:46330838-46331876	K562	blood:	n/a	n/a
7	MAX	chr11:46331335-46331659	NB4	blood:	n/a	n/a
8	SPI1	chr11:46331348-46331782	GM12878	blood:	n/a	n/a
9	EBF1	chr11:46331317-46331664	GM12878	blood:	n/a	n/a
10	SPI1	chr11:46331317-46331795	GM12891	blood:	n/a	n/a
11	SPI1	chr11:46331304-46331761	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:46331217-46331861	U87	brain:	n/a	n/a
13	SPI1	chr11:46331175-46331823	HL-60	blood:	n/a	n/a
14	FOSL1	chr11:46331190-46331819	HCT-116	colon:	n/a	n/a
15	MTA3	chr11:46331172-46331772	GM12878	blood:	n/a	n/a
16	NR2F2	chr11:46331115-46331880	K562	blood:	n/a	n/a
17	MYC	chr11:46331255-46331616	NB4	blood:	n/a	n/a
18	BHLHE40	chr11:46331340-46331369	K562	blood:	n/a	n/a
19	SPI1	chr11:46331172-46332008	GM12878	blood:	n/a	n/a
20	TCF7L2	chr11:46331185-46331806	Hela-S3	cervix:	n/a	chr11:46331565-46331579
21	TCF7L2	chr11:46331346-46331777	MCF-7	breast:	n/a	chr11:46331565-46331579
22	BATF	chr11:46331341-46331627	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:46317049..46320167-chr11:46328612..46332457,5	K562	blood:
2	chr11:46258591..46262908-chr11:46327982..46333180,8	K562	blood:
3	chr11:46292956..46294811-chr11:46329536..46331821,2	MCF-7	breast:
4	chr11:46257393..46260804-chr11:46327051..46334652,10	K562	blood:
5	chr11:45933406..45935188-chr11:46330221..46332088,2	K562	blood:
6	chr11:46329128..46331454-chr11:46367037..46368744,2	K562	blood:
7	chr11:46330662..46333267-chr11:46335331..46337838,2	MCF-7	breast:
8	chr11:46141780..46143612-chr11:46331038..46333172,2	MCF-7	breast:

No data

Variant related genes	Relation type
CREB3L1	TF binding region
ENSG00000121680	Chromatin interaction
ENSG00000157613	Chromatin interaction
ENSG00000254639	Chromatin interaction
ENSG00000135365	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72910063	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72910071	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72910075	0.88[AMR][1000 genomes];0.84[EUR][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	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS 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	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46319200-46337600	Weak transcription	Right Ventricle	heart
2	chr11:46319200-46342000	Weak transcription	Ovary	ovary
3	chr11:46319400-46346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:46321400-46331400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:46321400-46340200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:46322000-46345000	Weak transcription	Small Intestine	intestine
7	chr11:46326400-46335400	Strong transcription	Gastric	stomach
8	chr11:46328000-46331400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:46328200-46334800	Strong transcription	Rectal Mucosa Donor 31	rectum
10	chr11:46328600-46331400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:46328600-46331800	Enhancers	Fetal Thymus	thymus
12	chr11:46328600-46333400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:46328600-46334600	Strong transcription	Pancreas	Pancrea
14	chr11:46328800-46331400	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr11:46329000-46331600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:46329000-46331600	Enhancers	Dnd41	blood
17	chr11:46329000-46331600	Genic enhancers	NHLF	lung
18	chr11:46329000-46331800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:46329000-46331800	Strong transcription	Stomach Mucosa	stomach
20	chr11:46329000-46344000	Strong transcription	Fetal Intestine Large	intestine
21	chr11:46329200-46331800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:46329200-46336200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:46329200-46346800	Weak transcription	Fetal Kidney	kidney
24	chr11:46329400-46336200	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:46329800-46331400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:46329800-46331800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:46329800-46331800	Enhancers	Placenta	Placenta
28	chr11:46330000-46331600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:46330000-46331600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:46330000-46331600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:46330000-46331600	Enhancers	Right Atrium	heart
32	chr11:46330000-46331600	Enhancers	A549	lung
33	chr11:46330000-46331600	Genic enhancers	NH-A	brain
34	chr11:46330000-46331800	Genic enhancers	Placenta Amnion	Placenta Amnion
35	chr11:46330000-46331800	Enhancers	GM12878-XiMat	blood
36	chr11:46330000-46331800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr11:46330000-46331800	Genic enhancers	NHDF-Ad	bronchial
38	chr11:46330000-46332400	Strong transcription	Fetal Lung	lung
39	chr11:46330000-46341800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:46330200-46331400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr11:46330200-46331600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:46330200-46331600	Enhancers	Primary hematopoietic stem cells	blood
43	chr11:46330200-46331600	Enhancers	HMEC	breast
44	chr11:46330200-46331800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr11:46330200-46332800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr11:46330200-46349400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr11:46330400-46331400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:46330400-46331600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:46330400-46331600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:46330400-46331600	Enhancers	Primary B cells from cord blood	blood

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