Variant report

Variant	rs5997537
Chromosome Location	chr22:30234916-30234917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr22:30233464-30234918	H1-neurons	neurons:	n/a	chr22:30233992-30234005
2	POLR2A	chr22:30233477-30234945	HepG2	liver:	n/a	n/a
3	MXI1	chr22:30233342-30235412	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr22:30233735-30234923	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:30233863-30234988	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr22:30233727-30235226	GM12891	blood:	n/a	n/a
7	POLR2A	chr22:30233733-30235165	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30232954..30235817-chr22:30277750..30279574,2	MCF-7	breast:
2	chr22:30225765..30230715-chr22:30232604..30236000,6	K562	blood:
3	chr22:30221897..30227952-chr22:30230604..30235599,8	MCF-7	breast:
4	chr22:30199503..30202747-chr22:30231620..30235442,3	MCF-7	breast:
5	chr22:30228546..30230856-chr22:30232707..30235317,4	MCF-7	breast:
6	chr22:30228718..30231367-chr22:30232651..30236541,5	K562	blood:
7	chr22:30224439..30228420-chr22:30233600..30235751,3	K562	blood:
8	chr22:30226725..30230027-chr22:30233173..30235923,3	MCF-7	breast:
9	chr22:30209515..30211458-chr22:30232926..30235230,2	K562	blood:

No data

Variant related genes	Relation type
ASCC2	TF binding region
ENSG00000100325	Chromatin interaction
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs28584892	1.00[AFR][1000 genomes]
rs28609003	1.00[AFR][1000 genomes]
rs5997517	1.00[AFR][1000 genomes]
rs5997526	1.00[AFR][1000 genomes]
rs5997557	1.00[AFR][1000 genomes]
rs6006233	1.00[AFR][1000 genomes]
rs6006271	1.00[AFR][1000 genomes]
rs6006273	1.00[AFR][1000 genomes]
rs6006283	1.00[AFR][1000 genomes]
rs6006284	1.00[AFR][1000 genomes]
rs6006311	1.00[AFR][1000 genomes]
rs6006313	1.00[AFR][1000 genomes]

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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30233400-30235000	Active TSS	Fetal Kidney	kidney
2	chr22:30233600-30235000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:30233800-30235000	Active TSS	Brain Cingulate Gyrus	brain
4	chr22:30233800-30235000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr22:30233800-30235000	Active TSS	Right Atrium	heart
6	chr22:30233800-30235200	Active TSS	Fetal Intestine Small	intestine
7	chr22:30234000-30235000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr22:30234400-30235000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr22:30234400-30235000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr22:30234400-30235000	Flanking Active TSS	NHEK	skin
11	chr22:30234400-30235200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr22:30234400-30235200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:30234600-30235000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr22:30234600-30235000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr22:30234600-30235000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr22:30234600-30235000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:30234600-30235000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:30234600-30235000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr22:30234600-30235000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr22:30234600-30235000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr22:30234600-30235000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr22:30234600-30235000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr22:30234600-30235000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr22:30234600-30235000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr22:30234600-30235000	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr22:30234600-30235000	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr22:30234600-30235000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:30234600-30235000	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr22:30234600-30235000	Flanking Active TSS	Fetal Heart	heart
30	chr22:30234600-30235000	Flanking Active TSS	Fetal Lung	lung
31	chr22:30234600-30235000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr22:30234600-30235000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr22:30234600-30235000	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr22:30234600-30235000	Flanking Active TSS	Thymus	Thymus
35	chr22:30234600-30235000	Flanking Active TSS	A549	lung
36	chr22:30234600-30235000	Flanking Active TSS	Hela-S3	cervix
37	chr22:30234600-30235000	Flanking Active TSS	K562	blood
38	chr22:30234600-30235200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:30234600-30235200	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr22:30234600-30235200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr22:30234600-30235200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr22:30234600-30235200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr22:30234600-30235200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr22:30234600-30235200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:30234600-30235200	Weak transcription	Spleen	Spleen
46	chr22:30234600-30235200	Flanking Active TSS	Dnd41	blood
47	chr22:30234600-30235200	Flanking Active TSS	GM12878-XiMat	blood
48	chr22:30234600-30235200	Flanking Active TSS	HepG2	liver
49	chr22:30234600-30235400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr22:30234600-30235400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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