Variant report

Variant	rs544040980
Chromosome Location	chr11:46400001-46400002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46399537-46406317	K562	blood:	n/a	n/a
2	POLR2A	chr11:46398695-46401456	HL-60	blood:	n/a	n/a
3	POLR2A	chr11:46399739-46401596	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr11:46399936-46400199	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:46399808-46400135	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:46399568-46400047	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:46399801-46400732	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:46399744-46401543	NB4	blood:	n/a	n/a
9	POLR2A	chr11:46399961-46400184	MCF-7	breast:	n/a	n/a
10	POLR2A	chr11:46399047-46401518	K562	blood:	n/a	n/a
11	POLR2A	chr11:46399545-46401444	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:46399869-46402753	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr11:46399633-46400205	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:46399557-46401491	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:46399748-46401308	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:46398742-46401481	HL-60	blood:	n/a	n/a
17	POLR2A	chr11:46398748-46401609	K562	blood:	n/a	n/a
18	POLR2A	chr11:46399194-46401040	K562	blood:	n/a	n/a
19	POLR2A	chr11:46399748-46401612	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr11:46399623-46400190	GM12878	blood:	n/a	n/a
21	HMGN3	chr11:46399958-46400150	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46399063..46400618-chr11:46400770..46402809,2	MCF-7	breast:
2	chr11:46256874..46260563-chr11:46399060..46405748,9	K562	blood:
3	chr11:46391583..46394850-chr11:46399666..46402869,4	MCF-7	breast:

No data

Variant related genes	Relation type
MDK	TF binding region
ENSG00000254639	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000149091	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv897319	chr11:46396479-46417815	Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv554203	chr11:46399538-46406497	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv897320	chr11:46399901-46417815	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46383600-46402000	Weak transcription	Fetal Brain Male	brain
2	chr11:46385200-46400600	Strong transcription	Thymus	Thymus
3	chr11:46385400-46401200	Strong transcription	Dnd41	blood
4	chr11:46386000-46402200	Weak transcription	NHDF-Ad	bronchial
5	chr11:46388600-46400200	Strong transcription	Gastric	stomach
6	chr11:46388800-46400600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:46389000-46402000	Weak transcription	Right Atrium	heart
8	chr11:46389400-46400200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:46389400-46400400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:46389400-46401400	Strong transcription	Primary T cells from cord blood	blood
11	chr11:46389600-46400200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:46389600-46400200	Strong transcription	Liver	Liver
13	chr11:46389600-46400200	Strong transcription	Left Ventricle	heart
14	chr11:46389600-46400200	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:46389600-46400400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:46389600-46400400	Strong transcription	Adipose Nuclei	Adipose
17	chr11:46389600-46400400	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr11:46389600-46401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:46389600-46401800	Weak transcription	Stomach Mucosa	stomach
20	chr11:46389800-46400200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr11:46389800-46400200	Strong transcription	Brain Cingulate Gyrus	brain
22	chr11:46389800-46400600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:46389800-46401000	Strong transcription	Fetal Thymus	thymus
24	chr11:46390200-46400400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:46390200-46401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:46391000-46402000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:46391200-46400400	Strong transcription	Fetal Brain Female	brain
28	chr11:46391400-46400400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:46391400-46400600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:46391400-46402200	Weak transcription	NH-A	brain
31	chr11:46391600-46400200	Strong transcription	Brain Germinal Matrix	brain
32	chr11:46391600-46400200	Strong transcription	NHLF	lung
33	chr11:46391600-46400400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:46391600-46400600	Weak transcription	Hela-S3	cervix
35	chr11:46391600-46400800	Weak transcription	K562	blood
36	chr11:46391800-46400200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr11:46391800-46400400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr11:46391800-46400400	Strong transcription	Lung	lung
39	chr11:46391800-46400600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr11:46391800-46400600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:46391800-46400600	Strong transcription	Placenta	Placenta
42	chr11:46391800-46402200	Weak transcription	HSMM	muscle
43	chr11:46392000-46400400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:46392000-46401400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:46392200-46400400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:46393000-46400400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:46393200-46400400	Strong transcription	NHEK	skin
48	chr11:46394200-46400400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr11:46394400-46401200	Strong transcription	Fetal Intestine Small	intestine
50	chr11:46394600-46400800	Strong transcription	Fetal Stomach	stomach

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