Variant report

Variant	rs578058375
Chromosome Location	chr11:18726999-18727000
allele	C/G
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	CTCF	chr11:18726940-18727485	HCT-116	colon:	n/a	n/a
2	MXI1	chr11:18726724-18728916	SK-N-SH	brain:	n/a	n/a
3	REST	chr11:18726412-18727000	H1-neurons	neurons:	n/a	chr11:18726631-18726640
4	POLR2A	chr11:18724271-18727029	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:18725792..18727506-chr11:18741119..18743990,2	MCF-7	breast:
2	chr11:18721312..18723604-chr11:18725131..18727597,3	MCF-7	breast:
3	chr11:18720007..18721865-chr11:18724885..18727096,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254966	TF binding region
ENSG00000151117	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv983163	chr11:18702181-18736146	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv525192	chr11:18722791-18793360	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3342768	chr11:18726926-18729124	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18720800-18727000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:18721000-18727400	Weak transcription	Aorta	Aorta
3	chr11:18721600-18727000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:18721800-18727000	Weak transcription	Colonic Mucosa	Colon
5	chr11:18722000-18727400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:18722600-18727200	Weak transcription	Lung	lung
7	chr11:18723800-18727200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:18724200-18727000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:18724400-18727200	Enhancers	Left Ventricle	heart
10	chr11:18724400-18727200	Enhancers	Right Ventricle	heart
11	chr11:18724600-18727000	Enhancers	Right Atrium	heart
12	chr11:18724600-18727000	Weak transcription	Thymus	Thymus
13	chr11:18724600-18727200	Weak transcription	Spleen	Spleen
14	chr11:18724800-18727000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:18724800-18727000	Weak transcription	Fetal Brain Female	brain
16	chr11:18725000-18727200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:18725400-18727200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:18725600-18727000	Enhancers	Ovary	ovary
19	chr11:18725800-18727000	Enhancers	Brain Angular Gyrus	brain
20	chr11:18725800-18727000	Enhancers	Fetal Intestine Large	intestine
21	chr11:18725800-18727200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr11:18725800-18727200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:18726000-18727000	Enhancers	Brain Anterior Caudate	brain
24	chr11:18726000-18727000	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr11:18726000-18727000	Enhancers	Fetal Lung	lung
26	chr11:18726200-18727000	Enhancers	Adipose Nuclei	Adipose
27	chr11:18726200-18727000	Enhancers	Brain Substantia Nigra	brain
28	chr11:18726200-18727000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:18726400-18727000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr11:18726400-18727000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr11:18726400-18727000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:18726400-18727000	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:18726400-18727000	Enhancers	Duodenum Mucosa	Duodenum
34	chr11:18726400-18727000	Enhancers	Fetal Intestine Small	intestine
35	chr11:18726400-18727200	Enhancers	Esophagus	oesophagus
36	chr11:18726400-18727200	Enhancers	Fetal Stomach	stomach
37	chr11:18726400-18727400	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr11:18726400-18727600	Flanking Active TSS	Stomach Mucosa	stomach
39	chr11:18726600-18727000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
40	chr11:18726600-18727000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr11:18726600-18727000	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr11:18726600-18727000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:18726600-18727000	Weak transcription	Psoas Muscle	Psoas
44	chr11:18726600-18727200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr11:18726600-18727200	Enhancers	Primary hematopoietic stem cells	blood
46	chr11:18726600-18727200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:18726600-18727200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
48	chr11:18726600-18727200	Enhancers	Liver	Liver
49	chr11:18726600-18727200	Enhancers	Fetal Kidney	kidney
50	chr11:18726600-18727600	Flanking Active TSS	Fetal Heart	heart

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