Variant report

Variant	rs202175630
Chromosome Location	chr11:66060243-66060244
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	EGR1	chr11:66060045-66060288	K562	blood:	n/a	chr11:66060193-66060204
2	MXI1	chr11:66054844-66061017	SK-N-SH	brain:	n/a	chr11:66060557-66060572
3	POLR2A	chr11:66054040-66060816	H1-neurons	neurons:	n/a	n/a
4	BHLHE40	chr11:66060240-66060618	K562	blood:	n/a	n/a
5	POLR2A	chr11:66059754-66060681	H1-neurons	neurons:	n/a	n/a
6	ZBTB7A	chr11:66059534-66060339	ECC-1	luminal epithelium:	n/a	n/a
7	BHLHE40	chr11:66060189-66060701	HepG2	liver:	n/a	n/a
8	ZBTB7A	chr11:66059388-66060267	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66056831..66061115-chr11:66109718..66114909,6	MCF-7	breast:
2	chr11:66034858..66038328-chr11:66053749..66060447,9	MCF-7	breast:

Variant related genes	Relation type
YIF1A	TF binding region
ENSG00000254762	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174903	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897773	chr11:66041807-66063654	Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv555223	chr11:66041807-66064126	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv897774	chr11:66042962-66063654	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv897775	chr11:66042962-66064850	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv897776	chr11:66042962-66066349	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv897777	chr11:66044882-66063654	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription 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	35 gene(s)	inside rSNPs	diseases
12	nsv897778	chr11:66044882-66066349	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv897779	chr11:66047523-66063654	Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	diseases
14	esv3407698	chr11:66058401-66060949	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	esv32849	chr11:66059034-66060286	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66056000-66061800	Active TSS	Brain Angular Gyrus	brain
2	chr11:66058400-66060400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr11:66058400-66060600	Weak transcription	Hela-S3	cervix
4	chr11:66058600-66060400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:66058600-66060800	Bivalent/Poised TSS	Fetal Brain Female	brain
6	chr11:66058800-66060400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
7	chr11:66058800-66060400	Active TSS	Brain Cingulate Gyrus	brain
8	chr11:66058800-66060400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
9	chr11:66058800-66060400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
10	chr11:66058800-66060600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:66058800-66060600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr11:66059000-66060400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:66059400-66060400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:66059400-66060400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:66059600-66060400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
16	chr11:66059600-66060600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:66059600-66060600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:66059600-66060600	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr11:66059800-66060400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
20	chr11:66059800-66060400	Bivalent Enhancer	Colonic Mucosa	Colon
21	chr11:66059800-66060400	Flanking Active TSS	Gastric	stomach
22	chr11:66059800-66060600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:66059800-66060600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:66059800-66060600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
25	chr11:66059800-66060800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
26	chr11:66059800-66060800	Bivalent Enhancer	Esophagus	oesophagus
27	chr11:66059800-66066400	Weak transcription	Right Atrium	heart
28	chr11:66060000-66060400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:66060000-66060400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:66060000-66060400	Bivalent Enhancer	Right Ventricle	heart
31	chr11:66060000-66060400	Flanking Bivalent TSS/Enh	HepG2	liver
32	chr11:66060000-66060600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr11:66060000-66060600	Enhancers	Pancreas	Pancrea
34	chr11:66060000-66064600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:66060200-66060400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:66060200-66060400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:66060200-66060400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:66060200-66060400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
39	chr11:66060200-66060400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
40	chr11:66060200-66060400	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
41	chr11:66060200-66060400	Flanking Active TSS	A549	lung
42	chr11:66060200-66060600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr11:66060200-66060600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
44	chr11:66060200-66061400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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