Variant report

Variant	rs2288249
Chromosome Location	chr11:46334239-46334240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:46334200-46334350	GM12871	blood:	n/a	n/a
2	CTCF	chr11:46334200-46334350	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr11:46334200-46334350	AG09319	gingival:	n/a	n/a
4	POLR2A	chr11:46333501-46334443	PFSK-1	brain:	n/a	n/a
5	CTCF	chr11:46334200-46334350	HEK293	kidney:	n/a	n/a
6	CTCF	chr11:46334160-46334310	AG04449	skin:	n/a	n/a
7	CTCF	chr11:46334160-46334310	AG09309	skin:	n/a	n/a
8	CTCF	chr11:46334200-46334350	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr11:46334220-46334370	HepG2	liver:	n/a	n/a
10	CTCF	chr11:46334216-46334373	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46257393..46260804-chr11:46327051..46334652,10	K562	blood:
2	chr11:46143507..46145451-chr11:46333298..46335406,2	K562	blood:
3	chr11:46332816..46336115-chr11:46338065..46341481,4	K562	blood:
4	chr11:46332850..46336824-chr11:46338704..46341793,4	MCF-7	breast:

No data

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

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11038864	0.80[ASN][1000 genomes]
rs17197116	1.00[CEU][hapmap];0.83[GIH][hapmap]
rs35652107	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3809047	1.00[CEU][hapmap];0.83[GIH][hapmap];0.87[EUR][1000 genomes]
rs5028615	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882674	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 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	chr11:46321400-46340200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:46322000-46345000	Weak transcription	Small Intestine	intestine
6	chr11:46326400-46335400	Strong transcription	Gastric	stomach
7	chr11:46328200-46334800	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr11:46328600-46334600	Strong transcription	Pancreas	Pancrea
9	chr11:46329000-46344000	Strong transcription	Fetal Intestine Large	intestine
10	chr11:46329200-46336200	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:46329200-46346800	Weak transcription	Fetal Kidney	kidney
12	chr11:46329400-46336200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:46330000-46341800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:46330200-46349400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:46330600-46335000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr11:46330600-46335400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr11:46330600-46338800	Weak transcription	Left Ventricle	heart
18	chr11:46330600-46339800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:46330600-46339800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:46330600-46344800	Strong transcription	Fetal Intestine Small	intestine
21	chr11:46330600-46345000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:46330600-46346200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:46330600-46348200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:46330600-46348800	Strong transcription	Fetal Stomach	stomach
25	chr11:46330800-46334800	Strong transcription	Colonic Mucosa	Colon
26	chr11:46330800-46335600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr11:46330800-46338600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:46330800-46340600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:46330800-46344600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:46330800-46348200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:46331000-46335000	Strong transcription	Fetal Muscle Leg	muscle
32	chr11:46331000-46335400	Strong transcription	HSMMtube	muscle
33	chr11:46331000-46336000	Strong transcription	HSMM	muscle
34	chr11:46331200-46339000	Weak transcription	Adipose Nuclei	Adipose
35	chr11:46331200-46344200	Strong transcription	Osteobl	bone
36	chr11:46331400-46335800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:46331400-46336600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:46331400-46336600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr11:46331400-46336600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:46331400-46344800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:46331400-46345000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:46331600-46334400	Strong transcription	NH-A	brain
43	chr11:46331600-46336400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:46331600-46336400	Weak transcription	A549	lung
45	chr11:46331600-46336600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:46331600-46336600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr11:46331600-46336600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr11:46331600-46336600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:46331600-46336600	Weak transcription	Dnd41	blood
50	chr11:46331600-46338200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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