Variant report

Variant	rs564185572
Chromosome Location	chr2:111876233-111876234
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	MYC	chr2:111876030-111876487	H1-hESC	embryonic stem cell:	n/a	n/a
2	SMARCB1	chr2:111874466-111876366	Hela-S3	cervix:	n/a	n/a
3	SUZ12	chr2:111874709-111878454	NT2-D1	testis:	n/a	n/a
4	MAX	chr2:111874534-111876269	A549	lung:	n/a	n/a
5	MAX	chr2:111875276-111876962	NB4	blood:	n/a	n/a
6	SUZ12	chr2:111875129-111878150	H1-hESC	embryonic stem cell:	n/a	n/a
7	SMARCC1	chr2:111874583-111876622	Hela-S3	cervix:	n/a	n/a
8	CTBP2	chr2:111874524-111881050	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr2:111875838-111876267	H1-hESC	embryonic stem cell:	n/a	n/a
10	SPI1	chr2:111875726-111876295	HL-60	blood:	n/a	chr2:111875940-111875953
11	SETDB1	chr2:111875629-111876263	U2OS	brain:	n/a	n/a
12	MAX	chr2:111874449-111876247	HCT-116	colon:	n/a	n/a
13	POLR2A	chr2:111876175-111876348	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:111875690-111876245	H1-neurons	neurons:	n/a	n/a
15	ELF1	chr2:111876199-111876824	GM12878	blood:	n/a	n/a
16	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
17	MAX	chr2:111874500-111876310	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111875880..111877905-chr2:111996338..111997967,2	K562	blood:

Variant related genes	Relation type
ENSG00000204581	TF binding region
BCL2L11	TF binding region
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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111874400-111876600	Bivalent Enhancer	Fetal Heart	heart
2	chr2:111874400-111876800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:111874400-111877800	Enhancers	Spleen	Spleen
4	chr2:111874400-111878200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
5	chr2:111874400-111879800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:111874600-111876800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
7	chr2:111874600-111878000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
8	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
9	chr2:111874600-111878200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
10	chr2:111874600-111878400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:111874800-111876400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
12	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr2:111874800-111877000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
15	chr2:111874800-111877200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
16	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
17	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
18	chr2:111874800-111877400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
19	chr2:111874800-111877600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr2:111874800-111878000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
22	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
23	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:111874800-111878000	Flanking Bivalent TSS/Enh	Thymus	Thymus
25	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr2:111874800-111878200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:111874800-111878200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:111874800-111878200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr2:111874800-111878200	Flanking Active TSS	Right Ventricle	heart
30	chr2:111874800-111879600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:111874800-111880000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr2:111875000-111876400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:111875000-111876800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:111875000-111877000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:111875000-111877800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr2:111875000-111878000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
37	chr2:111875000-111878200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:111875200-111876400	Active TSS	Brain Angular Gyrus	brain
39	chr2:111875200-111876400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr2:111875200-111877200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr2:111875200-111877600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:111875200-111878200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:111875200-111878200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
45	chr2:111875200-111880000	Bivalent Enhancer	Fetal Brain Male	brain
46	chr2:111875400-111876400	Weak transcription	Lung	lung
47	chr2:111875400-111876600	Bivalent/Poised TSS	Fetal Brain Female	brain
48	chr2:111875400-111877200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
49	chr2:111875400-111877400	Weak transcription	HepG2	liver
50	chr2:111875400-111877800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood

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