Variant report

Variant	rs554416904
Chromosome Location	chr11:45166985-45166986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:45166638-45170215	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:45166659-45169405	HepG2	liver:	n/a	n/a
3	CTCF	chr11:45166980-45167270	HUVEC	blood vessel:	n/a	chr11:45167058-45167076
4	REST	chr11:45166967-45167245	H1-hESC	embryonic stem cell:	n/a	chr11:45167123-45167132 chr11:45167131-45167144 chr11:45167131-45167144
5	POLR2A	chr11:45166766-45169443	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr11:45166837-45169302	H1-hESC	embryonic stem cell:	n/a	chr11:45167119-45167132
7	POLR2A	chr11:45165151-45169153	MCF10A-Er-Src	breast:	n/a	n/a
8	MAZ	chr11:45166853-45167022	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:45166623-45169330	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:45166943-45167023	A549	lung:	n/a	n/a
11	POLR2A	chr11:45166912-45169431	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:45166729-45169606	Raji	blood:	n/a	n/a
13	HCFC1	chr11:45166767-45169670	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:45165135..45167115-chr11:45369738..45371244,2	MCF-7	breast:
2	chr11:45161924..45164749-chr11:45165739..45167752,2	MCF-7	breast:
3	chr11:44940135..44943122-chr11:45165602..45168415,2	MCF-7	breast:
4	chr11:45164160..45171283-chr11:45198764..45207868,26	MCF-7	breast:

Variant related genes	Relation type
PRDM11	TF binding region
ENSG00000019485	Chromatin interaction
ENSG00000157570	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv541025	chr11:45154352-45193352	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
4	esv3402611	chr11:45166876-45169824	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45164200-45167000	Weak transcription	Right Atrium	heart
2	chr11:45164400-45167000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:45166200-45167000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:45166800-45167000	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:45166800-45167000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:45166800-45167000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:45166800-45167000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:45166800-45167000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:45166800-45167000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:45166800-45167000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:45166800-45167000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:45166800-45167000	Active TSS	Brain Anterior Caudate	brain
13	chr11:45166800-45167000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr11:45166800-45167000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr11:45166800-45167000	Bivalent Enhancer	Fetal Lung	lung
16	chr11:45166800-45167200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:45166800-45167200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr11:45166800-45167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:45166800-45167200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr11:45166800-45167200	Bivalent Enhancer	Primary T cells from cord blood	blood
21	chr11:45166800-45167200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:45166800-45167200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr11:45166800-45167200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:45166800-45167200	Bivalent Enhancer	Fetal Brain Female	brain
25	chr11:45166800-45167200	Enhancers	Fetal Intestine Small	intestine
26	chr11:45166800-45167200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr11:45166800-45167400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:45166800-45167400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:45166800-45167400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr11:45166800-45167400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:45166800-45167400	Bivalent Enhancer	Brain Germinal Matrix	brain
32	chr11:45166800-45167400	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr11:45166800-45167400	Bivalent Enhancer	Placenta	Placenta
34	chr11:45166800-45167400	Bivalent Enhancer	Fetal Stomach	stomach
35	chr11:45166800-45167400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
36	chr11:45166800-45167600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr11:45166800-45167600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr11:45166800-45167600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
39	chr11:45166800-45167800	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr11:45166800-45168200	Enhancers	Spleen	Spleen
41	chr11:45166800-45169600	Active TSS	H9 Cell Line	embryonic stem cell

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