Variant report

Variant	rs567556421
Chromosome Location	chr2:111876913-111876914
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	E2F6	chr2:111876311-111880584	H1-hESC	embryonic stem cell:	n/a	chr2:111876443-111876455 chr2:111878414-111878423 chr2:111880549-111880558 chr2:111880095-111880104 chr2:111877747-111877759 chr2:111877347-111877357 chr2:111876622-111876632 chr2:111877478-111877490 chr2:111878679-111878691 chr2:111877963-111877973 chr2:111880318-111880330 chr2:111878285-111878294 chr2:111878171-111878181 chr2:111880053-111880060
2	SUZ12	chr2:111874709-111878454	NT2-D1	testis:	n/a	n/a
3	MAX	chr2:111875276-111876962	NB4	blood:	n/a	n/a
4	SUZ12	chr2:111875129-111878150	H1-hESC	embryonic stem cell:	n/a	n/a
5	HMGN3	chr2:111876781-111876981	K562	blood:	n/a	n/a
6	CTBP2	chr2:111874524-111881050	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr2:111876890-111876991	HepG2	liver:	n/a	n/a
8	E2F6	chr2:111876572-111877067	H1-hESC	embryonic stem cell:	n/a	chr2:111876622-111876632
9	MAX	chr2:111876671-111877083	GM12878	blood:	n/a	n/a
10	MYC	chr2:111876909-111876923	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr2:111876805-111879414	GM12878	blood:	n/a	n/a
12	SIN3A	chr2:111876003-111881226	H1-hESC	embryonic stem cell:	n/a	chr2:111879126-111879137 chr2:111878277-111878290 chr2:111879090-111879099 chr2:111879081-111879094 chr2:111876340-111876351 chr2:111880621-111880632 chr2:111878499-111878510 chr2:111880885-111880896

No.	Distal block	Cell Line	Cell type
1	chr2:111869458..111872537-chr2:111876483..111880583,5	MCF-7	breast:
2	chr2:111875880..111877905-chr2:111996338..111997967,2	K562	blood:
3	chr2:111876826..111879311-chr2:111966028..111968773,2	K562	blood:

Variant related genes	Relation type
ENSG00000204581	TF binding region
BCL2L11	TF binding region
ENSG00000204581	Chromatin interaction
ENSG00000172965	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv834331	chr2:111812139-112004678	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv874842	chr2:111870220-111892984	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv829618	chr2:111875627-111881547	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3338590	chr2:111876081-111880479	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111874400-111877800	Enhancers	Spleen	Spleen
2	chr2:111874400-111878200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
3	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:111874600-111878000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
5	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
6	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
7	chr2:111874600-111878400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
10	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
11	chr2:111874800-111877200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
12	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
13	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
14	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
15	chr2:111874800-111877600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr2:111874800-111878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
18	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
19	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Thymus	Thymus
21	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
22	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:111874800-111878200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:111874800-111878200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr2:111874800-111878200	Flanking Active TSS	Right Ventricle	heart
26	chr2:111874800-111879600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr2:111875000-111877000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:111875000-111877800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr2:111875000-111878000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
31	chr2:111875000-111878200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:111875200-111877200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
33	chr2:111875200-111877600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:111875200-111878200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
37	chr2:111875200-111880000	Bivalent Enhancer	Fetal Brain Male	brain
38	chr2:111875400-111877200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
39	chr2:111875400-111877400	Weak transcription	HepG2	liver
40	chr2:111875400-111877800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
41	chr2:111875400-111878000	Weak transcription	Aorta	Aorta
42	chr2:111875400-111878000	Bivalent Enhancer	Fetal Lung	lung
43	chr2:111875600-111877800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:111875600-111877800	Weak transcription	Ovary	ovary
45	chr2:111875600-111877800	Weak transcription	HSMMtube	muscle
46	chr2:111875600-111878000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr2:111875600-111880000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr2:111875600-111881200	Active TSS	Psoas Muscle	Psoas
49	chr2:111875800-111877200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:111875800-111877200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood

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