Variant report

Variant	rs75438243
Chromosome Location	chr22:31090630-31090631
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr22:31089789-31091468	H1-neurons	neurons:	n/a	n/a
2	YY1	chr22:31090045-31090659	ECC-1	luminal epithelium:	n/a	chr22:31090347-31090356
3	TCF3	chr22:31090177-31090664	GM12878	blood:	n/a	chr22:31090649-31090658
4	POLR2A	chr22:31090260-31091189	HUVEC	blood vessel:	n/a	n/a
5	BACH1	chr22:31090133-31090640	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr22:31090009-31090956	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr22:31090076-31090703	SK-N-SH_RA	brain:	n/a	chr22:31090347-31090356
8	TBP	chr22:31090147-31090747	H1-hESC	embryonic stem cell:	n/a	n/a
9	TAF1	chr22:31090033-31090662	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAZ	chr22:31090266-31091022	Hela-S3	cervix:	n/a	n/a
11	MYC	chr22:31090246-31090699	MCF-7	breast:	n/a	n/a
12	POLR2A	chr22:31090129-31090786	GM12878	blood:	n/a	n/a
13	TCF12	chr22:31089977-31090650	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr22:31090217-31091094	GM18951	blood:	n/a	n/a
15	POLR2A	chr22:31089913-31090704	H1-hESC	embryonic stem cell:	n/a	n/a
16	HA-E2F1	chr22:31089961-31090699	MCF-7	breast:	n/a	chr22:31090347-31090356
17	POLR2A	chr22:31090128-31090722	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr22:31090037-31091162	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr22:31090053-31090778	HCT-116	colon:	n/a	n/a
20	YY1	chr22:31089937-31090697	SK-N-SH	brain:	n/a	chr22:31090347-31090356
21	MAX	chr22:31089981-31090631	A549	lung:	n/a	n/a
22	SIN3A	chr22:31090055-31090671	H1-hESC	embryonic stem cell:	n/a	chr22:31090559-31090568
23	POLR2A	chr22:31090139-31091311	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr22:31090077-31091209	MCF-7	breast:	n/a	n/a
25	YY1	chr22:31089959-31090710	H1-hESC	embryonic stem cell:	n/a	chr22:31090347-31090356
26	POLR2A	chr22:31090506-31091084	HEK293	kidney:	n/a	n/a
27	POLR2A	chr22:31090115-31091030	MCF-7	breast:	n/a	n/a
28	POLR2A	chr22:31090178-31090794	GM12878	blood:	n/a	n/a
29	MAX	chr22:31090042-31090660	MCF-7	breast:	n/a	n/a
30	YY1	chr22:31090158-31090643	HepG2	liver:	n/a	chr22:31090347-31090356
31	TCF7L2	chr22:31090189-31091170	HCT-116	colon:	n/a	n/a
32	POLR2A	chr22:31090368-31090771	SK-N-MC	brain:	n/a	n/a
33	BHLHE40	chr22:31090209-31091189	GM12878	blood:	n/a	n/a
34	GTF2F1	chr22:31090627-31090698	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr22:31090163-31090832	A549	lung:	n/a	n/a
36	POLR2A	chr22:31090030-31091435	MCF-7	breast:	n/a	n/a

No data

(count:6 , 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	chr22:31090489..31091184-chr8:687600..688120,2	MCF-7	breast:
4	chr22:31031588..31032094-chr22:31090123..31090949,2	MCF-7	breast:
5	chr22:31062708..31065866-chr22:31088934..31092028,6	MCF-7	breast:
6	chr22:31062803..31066328-chr22:31088733..31092098,4	MCF-7	breast:

No data

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000237647	Chromatin interaction
ENSG00000100036	Chromatin interaction
ENSG00000167065	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000104714	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:124 , 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	chr22:31089800-31091200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr22:31089800-31091200	Active TSS	Fetal Brain Female	brain
4	chr22:31089800-31091400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
5	chr22:31089800-31091600	Active TSS	Hela-S3	cervix
6	chr22:31089800-31091800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr22:31089800-31092000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr22:31090000-31090800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr22:31090000-31091000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr22:31090000-31091000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr22:31090000-31091000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr22:31090000-31091000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr22:31090000-31091000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:31090000-31091000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr22:31090000-31091000	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr22:31090000-31091000	Active TSS	Placenta Amnion	Placenta Amnion
17	chr22:31090000-31091000	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr22:31090000-31091000	Active TSS	Rectal Smooth Muscle	rectum
19	chr22:31090000-31091000	Active TSS	Right Ventricle	heart
20	chr22:31090000-31091200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr22:31090000-31091200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:31090000-31091200	Active TSS	Brain Germinal Matrix	brain
23	chr22:31090000-31091200	Active TSS	Fetal Lung	lung
24	chr22:31090000-31091200	Active TSS	Pancreas	Pancrea
25	chr22:31090000-31091200	Active TSS	Right Atrium	heart
26	chr22:31090000-31091200	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr22:31090000-31091400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:31090000-31091400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:31090000-31091400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr22:31090000-31091400	Active TSS	Brain Hippocampus Middle	brain
31	chr22:31090000-31091400	Active TSS	Brain Substantia Nigra	brain
32	chr22:31090000-31091400	Active TSS	A549	lung
33	chr22:31090000-31091400	Active TSS	HSMMtube	muscle
34	chr22:31090000-31091400	Active TSS	NHDF-Ad	bronchial
35	chr22:31090000-31091600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr22:31090000-31091600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr22:31090000-31091600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr22:31090000-31091600	Active TSS	NHLF	lung
39	chr22:31090000-31091800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr22:31090000-31091800	Active TSS	Brain Cingulate Gyrus	brain
41	chr22:31090200-31091000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:31090200-31091000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:31090200-31091000	Active TSS	Psoas Muscle	Psoas
44	chr22:31090200-31091000	Bivalent/Poised TSS	HepG2	liver
45	chr22:31090200-31091200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr22:31090200-31091200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr22:31090200-31091200	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr22:31090200-31091200	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr22:31090200-31091200	Active TSS	Fetal Heart	heart
50	chr22:31090200-31091200	Bivalent/Poised TSS	Fetal Intestine Large	intestine

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