Variant report

Variant	rs565890428
Chromosome Location	chr2:73114243-73114244
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	MAX	chr2:73113794-73115311	Hela-S3	cervix:	n/a	n/a
2	TCF12	chr2:73113875-73115501	A549	lung:	n/a	n/a
3	POLR2A	chr2:73114067-73115150	A549	lung:	n/a	n/a
4	NFIC	chr2:73114071-73115362	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr2:73114023-73115371	MCF-7	breast:	n/a	n/a
6	MAX	chr2:73113929-73115468	HCT-116	colon:	n/a	n/a
7	SMARCB1	chr2:73114139-73115276	Hela-S3	cervix:	n/a	n/a
8	E2F6	chr2:73114118-73115320	A549	lung:	n/a	chr2:73114303-73114313
9	REST	chr2:73114135-73115342	HepG2	liver:	n/a	n/a
10	MXI1	chr2:73113776-73114280	H1-hESC	embryonic stem cell:	n/a	chr2:73113862-73113877
11	REST	chr2:73114069-73114317	HepG2	liver:	n/a	n/a
12	ZNF143	chr2:73114176-73114720	Hela-S3	cervix:	n/a	n/a
13	MAX	chr2:73113998-73114759	SK-N-SH	brain:	n/a	n/a
14	CEBPB	chr2:73113516-73114346	A549	lung:	n/a	n/a
15	MAX	chr2:73113936-73115352	ECC-1	luminal epithelium:	n/a	n/a
16	RCOR1	chr2:73114122-73115217	HepG2	liver:	n/a	n/a
17	E2F4	chr2:73114211-73115228	K562	blood:	n/a	chr2:73114442-73114453 chr2:73114303-73114313
18	MAX	chr2:73114039-73115398	K562	blood:	n/a	n/a
19	KAP1	chr2:73113999-73115409	HEK293	kidney:	n/a	chr2:73115304-73115312
20	TAF1	chr2:73114161-73115301	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr2:73114157-73114878	HUVEC	blood vessel:	n/a	n/a
22	ELF1	chr2:73114066-73114634	HepG2	liver:	n/a	n/a
23	GTF2F1	chr2:73113814-73114583	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr2:73114193-73115191	HepG2	liver:	n/a	n/a
25	BHLHE40	chr2:73114018-73115316	K562	blood:	n/a	chr2:73114872-73114888 chr2:73114492-73114508
26	ELF1	chr2:73114028-73114653	MCF-7	breast:	n/a	n/a
27	UBTF	chr2:73114095-73115385	K562	blood:	n/a	n/a
28	YY1	chr2:73114021-73115265	HepG2	liver:	n/a	chr2:73114498-73114507 chr2:73114498-73114509 chr2:73114495-73114509 chr2:73114302-73114316
29	POLR2A	chr2:73113971-73114723	HepG2	liver:	n/a	n/a
30	REST	chr2:73114060-73114730	U87	brain:	n/a	n/a
31	TCF12	chr2:73114203-73115312	ECC-1	luminal epithelium:	n/a	n/a
32	E2F6	chr2:73113964-73115391	A549	lung:	n/a	chr2:73114303-73114313
33	TEAD4	chr2:73114034-73114823	ECC-1	luminal epithelium:	n/a	n/a
34	BCL3	chr2:73113982-73114577	A549	lung:	n/a	chr2:73114494-73114507 chr2:73114302-73114315
35	NFIC	chr2:73114016-73114695	HepG2	liver:	n/a	n/a
36	POLR2A	chr2:73114088-73115882	HepG2	liver:	n/a	n/a
37	GATA2	chr2:73113912-73115219	SH-SY5Y	brain:	n/a	n/a
38	CTCF	chr2:73114160-73114310	K562	blood:	n/a	chr2:73114232-73114245
39	MAX	chr2:73113614-73115363	MCF-7	breast:	n/a	n/a
40	MYBL2	chr2:73114075-73116539	HepG2	liver:	n/a	n/a
41	EBF1	chr2:73114213-73114856	GM12878	blood:	n/a	chr2:73114397-73114406 chr2:73114395-73114408 chr2:73114397-73114406 chr2:73114395-73114406 chr2:73114397-73114407
42	SMARCC1	chr2:73113813-73115189	Hela-S3	cervix:	n/a	n/a
43	REST	chr2:73114123-73114480	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr2:73114129-73115113	A549	lung:	n/a	n/a
45	HEY1	chr2:73114072-73115261	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:73114160-73115244	MCF-7	breast:	n/a	n/a
47	POLR2A	chr2:73114219-73114714	HepG2	liver:	n/a	n/a
48	BHLHE40	chr2:73113985-73114662	HepG2	liver:	n/a	chr2:73114492-73114508
49	STAT1	chr2:73114158-73115340	Hela-S3	cervix:	n/a	chr2:73115060-73115069 chr2:73115061-73115070
50	MAX	chr2:73114098-73115477	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73113720..73115697-chr2:73143241..73144788,2	MCF-7	breast:
2	chr2:73113671..73115841-chr2:73142116..73144129,2	MCF-7	breast:
3	chr2:73113851..73116141-chr2:73460063..73461895,2	K562	blood:
4	chr2:73113964..73115739-chr2:73439855..73442724,2	MCF-7	breast:

Variant related genes	Relation type
SPR	TF binding region
ENSG00000135617	Chromatin interaction
ENSG00000135624	Chromatin interaction
ENSG00000135638	Chromatin interaction
ENSG00000135632	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3377861	chr2:73113469-73116017	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73113600-73114400	Flanking Active TSS	Hela-S3	cervix
2	chr2:73113800-73114400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:73113800-73114400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr2:73113800-73114400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr2:73113800-73114400	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr2:73113800-73114400	Flanking Active TSS	K562	blood
7	chr2:73113800-73114400	Flanking Active TSS	NHEK	skin
8	chr2:73113800-73115200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr2:73113800-73115200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:73113800-73115200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:73113800-73115200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:73113800-73115200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr2:73113800-73115200	Active TSS	Colon Smooth Muscle	Colon
14	chr2:73113800-73115200	Active TSS	Psoas Muscle	Psoas
15	chr2:73113800-73115400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:73113800-73115800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:73114000-73114400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:73114000-73114400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:73114000-73114400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:73114000-73114400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
21	chr2:73114000-73114400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:73114000-73114400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:73114000-73114400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr2:73114000-73114400	Flanking Active TSS	Fetal Lung	lung
25	chr2:73114000-73114400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr2:73114000-73114400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr2:73114000-73114400	Flanking Active TSS	Placenta	Placenta
28	chr2:73114000-73114400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
29	chr2:73114000-73114400	Flanking Active TSS	Ovary	ovary
30	chr2:73114000-73114400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr2:73114000-73114400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:73114000-73114400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr2:73114000-73114400	Flanking Active TSS	Osteobl	bone
34	chr2:73114000-73114600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
35	chr2:73114000-73114600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
36	chr2:73114000-73114600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:73114000-73114800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:73114000-73114800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:73114000-73114800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:73114000-73114800	Bivalent Enhancer	Fetal Thymus	thymus
41	chr2:73114000-73115000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:73114000-73115000	Bivalent/Poised TSS	Fetal Kidney	kidney
43	chr2:73114000-73115000	Flanking Active TSS	HMEC	breast
44	chr2:73114000-73115200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr2:73114000-73115200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr2:73114000-73115200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:73114000-73115200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:73114000-73115200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
49	chr2:73114000-73115200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr2:73114000-73115200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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