Variant report

Variant	rs531927235
Chromosome Location	chr22:31090406-31090407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31090071-31090579	HCT-116	colon:	n/a	n/a
2	REST	chr22:31089789-31091468	H1-neurons	neurons:	n/a	n/a
3	TCF12	chr22:31089930-31090603	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr22:31090245-31090413	GM19239	blood:	n/a	n/a
5	CTCF	chr22:31090381-31090419	Spleen_OC	spleen:	n/a	n/a
6	YY1	chr22:31090045-31090659	ECC-1	luminal epithelium:	n/a	chr22:31090347-31090356
7	CTCF	chr22:31090280-31090430	SK-N-SH_RA	brain:	n/a	n/a
8	RUNX3	chr22:31090069-31090480	GM12878	blood:	n/a	n/a
9	TCF3	chr22:31090177-31090664	GM12878	blood:	n/a	chr22:31090649-31090658
10	FOXA2	chr22:31090056-31090452	A549	lung:	n/a	n/a
11	YY1	chr22:31090169-31090455	GM12892	blood:	n/a	chr22:31090347-31090356
12	YY1	chr22:31090143-31090532	HCT-116	colon:	n/a	chr22:31090347-31090356
13	YY1	chr22:31090218-31090439	K562	blood:	n/a	chr22:31090347-31090356
14	MAX	chr22:31090149-31090594	MCF-7	breast:	n/a	n/a
15	CTCF	chr22:31090280-31090430	A549	lung:	n/a	n/a
16	CTCF	chr22:31090280-31090430	GM12869	blood:	n/a	n/a
17	CTCF	chr22:31090300-31090450	GM12875	blood:	n/a	n/a
18	YY1	chr22:31090065-31090568	ECC-1	luminal epithelium:	n/a	chr22:31090347-31090356
19	POLR2A	chr22:31090260-31091189	HUVEC	blood vessel:	n/a	n/a
20	BACH1	chr22:31090133-31090640	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr22:31090009-31090956	H1-hESC	embryonic stem cell:	n/a	n/a
22	YY1	chr22:31090159-31090486	GM12892	blood:	n/a	chr22:31090347-31090356
23	POLR2A	chr22:31090050-31090592	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr22:31090320-31090470	GM12864	blood:	n/a	n/a
25	TCF12	chr22:31090104-31090625	A549	lung:	n/a	n/a
26	E2F6	chr22:31090131-31090615	A549	lung:	n/a	chr22:31090347-31090356
27	YY1	chr22:31090239-31090437	A549	lung:	n/a	chr22:31090347-31090356
28	ZNF143	chr22:31090235-31090522	GM12878	blood:	n/a	n/a
29	TAF1	chr22:31090107-31090605	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr22:31090356-31090547	Hela-S3	cervix:	n/a	n/a
31	EBF1	chr22:31090075-31090602	GM12878	blood:	n/a	n/a
32	POLR2A	chr22:31090191-31090434	A549	lung:	n/a	n/a
33	MAX	chr22:31090145-31090611	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr22:31090076-31090703	SK-N-SH_RA	brain:	n/a	chr22:31090347-31090356
35	TBP	chr22:31090147-31090747	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZEB1	chr22:31090127-31090502	GM12878	blood:	n/a	n/a
37	CTCF	chr22:31090260-31090410	HBMEC	blood vessel:	n/a	n/a
38	MXI1	chr22:31090166-31090601	GM12878	blood:	n/a	n/a
39	TAF1	chr22:31090033-31090662	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr22:31090216-31090601	GM12878	blood:	n/a	n/a
41	MAZ	chr22:31090266-31091022	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr22:31090360-31090510	NHEK	skin:	n/a	n/a
43	MAX	chr22:31090078-31090619	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF1	chr22:31090156-31090459	GM12878	blood:	n/a	n/a
45	MYC	chr22:31090381-31090461	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr22:31090268-31090430	GM19238	blood:	n/a	n/a
47	TCF12	chr22:31090156-31090438	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr22:31090052-31090594	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr22:31090018-31090411	H1-hESC	embryonic stem cell:	n/a	n/a
50	TEAD4	chr22:31090145-31090439	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31057579..31060597-chr22:31088878..31091753,3	MCF-7	breast:
2	chr22:30820440..30822751-chr22:31090157..31092444,2	MCF-7	breast:
3	chr22:31031588..31032094-chr22:31090123..31090949,2	MCF-7	breast:
4	chr22:31062708..31065866-chr22:31088934..31092028,6	MCF-7	breast:
5	chr22:31062803..31066328-chr22:31088733..31092098,4	MCF-7	breast:

No data

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000167065	Chromatin interaction
ENSG00000100036	Chromatin interaction
ENSG00000242114	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv3356283	chr22:31089477-31092325	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3428599	chr22:31089827-31092000	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31089400-31091600	Active TSS	Fetal Kidney	kidney
2	chr22:31089800-31090600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr22:31089800-31090600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:31089800-31091200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr22:31089800-31091200	Active TSS	Fetal Brain Female	brain
6	chr22:31089800-31091400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
7	chr22:31089800-31091600	Active TSS	Hela-S3	cervix
8	chr22:31089800-31091800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr22:31089800-31092000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr22:31090000-31090600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:31090000-31090600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
12	chr22:31090000-31090600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
13	chr22:31090000-31090600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr22:31090000-31090600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:31090000-31090600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr22:31090000-31090600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr22:31090000-31090600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:31090000-31090600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:31090000-31090600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
20	chr22:31090000-31090600	Flanking Active TSS	Liver	Liver
21	chr22:31090000-31090600	Flanking Active TSS	Colonic Mucosa	Colon
22	chr22:31090000-31090600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr22:31090000-31090600	Flanking Active TSS	Esophagus	oesophagus
24	chr22:31090000-31090600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr22:31090000-31090600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
26	chr22:31090000-31090600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
27	chr22:31090000-31090600	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr22:31090000-31090600	Flanking Active TSS	HMEC	breast
29	chr22:31090000-31090600	Flanking Active TSS	HUVEC	blood vessel
30	chr22:31090000-31090600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr22:31090000-31090800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr22:31090000-31091000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr22:31090000-31091000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr22:31090000-31091000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr22:31090000-31091000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr22:31090000-31091000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:31090000-31091000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr22:31090000-31091000	Bivalent/Poised TSS	Fetal Stomach	stomach
39	chr22:31090000-31091000	Active TSS	Placenta Amnion	Placenta Amnion
40	chr22:31090000-31091000	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr22:31090000-31091000	Active TSS	Rectal Smooth Muscle	rectum
42	chr22:31090000-31091000	Active TSS	Right Ventricle	heart
43	chr22:31090000-31091200	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr22:31090000-31091200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr22:31090000-31091200	Active TSS	Brain Germinal Matrix	brain
46	chr22:31090000-31091200	Active TSS	Fetal Lung	lung
47	chr22:31090000-31091200	Active TSS	Pancreas	Pancrea
48	chr22:31090000-31091200	Active TSS	Right Atrium	heart
49	chr22:31090000-31091200	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr22:31090000-31091400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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