Variant report

Variant	rs57969636
Chromosome Location	chr2:11051528-11051529
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	CTCF	chr2:11051480-11051630	HBMEC	blood vessel:	n/a	n/a
2	RAD21	chr2:11051439-11052327	SK-N-SH	brain:	n/a	chr2:11051972-11051982 chr2:11052010-11052029 chr2:11051977-11051991 chr2:11052222-11052236
3	TCF12	chr2:11051272-11052728	ECC-1	luminal epithelium:	n/a	chr2:11051332-11051342
4	ZBTB7A	chr2:11051493-11052324	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr2:11051408-11052308	H1-hESC	embryonic stem cell:	n/a	chr2:11051927-11051937
6	MAX	chr2:11051314-11052396	ECC-1	luminal epithelium:	n/a	chr2:11051927-11051937
7	CTCF	chr2:11051177-11052294	SK-N-SH	brain:	n/a	chr2:11052009-11052027 chr2:11052225-11052238 chr2:11052011-11052032
8	MAX	chr2:11051379-11052240	H1-hESC	embryonic stem cell:	n/a	chr2:11051927-11051937
9	CTCF	chr2:11051500-11051650	HEK293	kidney:	n/a	n/a
10	MAX	chr2:11051389-11052378	ECC-1	luminal epithelium:	n/a	chr2:11051927-11051937
11	REST	chr2:11051406-11052605	H1-neurons	neurons:	n/a	chr2:11051914-11051927
12	ZNF143	chr2:11051362-11052036	H1-hESC	embryonic stem cell:	n/a	chr2:11051933-11051943 chr2:11051709-11051719 chr2:11051910-11051920
13	EP300	chr2:11051505-11052218	A549	lung:	n/a	chr2:11051709-11051718 chr2:11051933-11051942
14	CTCF	chr2:11051515-11052351	A549	lung:	n/a	chr2:11052009-11052027 chr2:11052225-11052238 chr2:11052011-11052032
15	CTBP2	chr2:11051456-11052843	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3A	chr2:11051478-11052204	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr2:11051476-11051677	MCF-7	breast:	n/a	n/a
18	SMC3	chr2:11050978-11052948	SK-N-SH	brain:	n/a	chr2:11052011-11052025
19	EP300	chr2:11051347-11052753	ECC-1	luminal epithelium:	n/a	chr2:11052421-11052437 chr2:11051709-11051718 chr2:11052428-11052437 chr2:11052379-11052395 chr2:11051933-11051942 chr2:11052383-11052399
20	MAX	chr2:11051314-11052542	A549	lung:	n/a	chr2:11051927-11051937
21	RFX5	chr2:11051392-11052090	H1-hESC	embryonic stem cell:	n/a	chr2:11051786-11051801 chr2:11051789-11051798
22	TCF12	chr2:11051358-11052309	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:11049134..11051684-chr2:11064717..11067313,2	K562	blood:
2	chr2:11049420..11051539-chr2:11073823..11076217,2	MCF-7	breast:

Variant related genes	Relation type
KCNF1	TF binding region

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	nsv580969	chr2:11033567-11081645	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv873662	chr2:11035430-11061156	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv521177	chr2:11040146-11066699	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv3341963	chr2:11051501-11053499	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11049800-11051600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:11050800-11051600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
3	chr2:11050800-11051600	Enhancers	Spleen	Spleen
4	chr2:11050800-11051600	Bivalent Enhancer	HSMMtube	muscle
5	chr2:11051000-11051600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:11051000-11051800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:11051200-11051600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr2:11051200-11051600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:11051200-11051600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:11051200-11051600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:11051200-11051600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr2:11051200-11051600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr2:11051200-11051800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:11051200-11052800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
15	chr2:11051200-11054000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
16	chr2:11051200-11054600	Bivalent Enhancer	Placenta	Placenta
17	chr2:11051400-11051600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:11051400-11051600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:11051400-11051600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr2:11051400-11051600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr2:11051400-11051600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:11051400-11051600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:11051400-11051600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:11051400-11051600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:11051400-11051600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:11051400-11051600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr2:11051400-11051600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
28	chr2:11051400-11051800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:11051400-11051800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr2:11051400-11051800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:11051400-11051800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:11051400-11051800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:11051400-11051800	Enhancers	Pancreas	Pancrea
34	chr2:11051400-11051800	Flanking Active TSS	Right Ventricle	heart
35	chr2:11051400-11052000	Bivalent Enhancer	Liver	Liver
36	chr2:11051400-11052000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr2:11051400-11052000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:11051400-11052000	Flanking Active TSS	A549	lung
39	chr2:11051400-11052200	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr2:11051400-11052600	Bivalent Enhancer	Fetal Thymus	thymus
41	chr2:11051400-11052800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr2:11051400-11052800	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr2:11051400-11053000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr2:11051400-11053000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr2:11051400-11053000	Bivalent Enhancer	Fetal Lung	lung

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