Variant report

Variant	rs5749089
Chromosome Location	chr22:30779322-30779323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:30779220-30779370	GM12871	blood:	n/a	n/a
2	CTCF	chr22:30779225-30779353	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr22:30779200-30779350	HepG2	liver:	n/a	n/a
4	CTCF	chr22:30779248-30779343	GM12891	blood:	n/a	n/a
5	CTCF	chr22:30779256-30779340	MCF-7	breast:	n/a	n/a
6	RAD21	chr22:30779129-30779456	H1-hESC	embryonic stem cell:	n/a	chr22:30779283-30779295
7	CTCF	chr22:30779255-30779363	GM19240	blood:	n/a	n/a
8	CTCF	chr22:30779237-30779349	GM12892	blood:	n/a	n/a
9	CTCF	chr22:30779180-30779330	GM12865	blood:	n/a	n/a
10	CTCF	chr22:30779239-30779334	GM19238	blood:	n/a	n/a
11	CTCF	chr22:30779244-30779346	GM19239	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:30713647..30715553-chr22:30779005..30781770,2	MCF-7	breast:
2	chr22:30772557..30775674-chr22:30775726..30779748,4	K562	blood:
3	chr22:30775755..30777572-chr22:30777818..30782197,3	K562	blood:
4	chr22:30755205..30758055-chr22:30777894..30780330,2	MCF-7	breast:
5	chr22:30773208..30775224-chr22:30778192..30780424,2	K562	blood:

No data

Variant related genes	Relation type
RNF215	TF binding region
ENSG00000241528	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000099999	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2097919	0.89[ASN][1000 genomes]
rs5753103	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5994293	0.89[EUR][1000 genomes]
rs5997602	0.81[EUR][1000 genomes]
rs5997623	0.91[ASN][1000 genomes]
rs722298	0.87[EUR][1000 genomes]
rs740221	0.91[ASN][1000 genomes]
rs9608885	0.93[ASN][1000 genomes]
rs9620970	0.84[EUR][1000 genomes]

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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30753200-30782200	Weak transcription	Stomach Mucosa	stomach
2	chr22:30753600-30779400	Weak transcription	NHEK	skin
3	chr22:30753600-30779600	Weak transcription	NH-A	brain
4	chr22:30753600-30782000	Weak transcription	Colonic Mucosa	Colon
5	chr22:30753600-30782000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr22:30753600-30782200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr22:30753600-30782400	Weak transcription	Primary T cells from cord blood	blood
8	chr22:30754200-30782000	Weak transcription	Fetal Brain Male	brain
9	chr22:30759600-30782200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr22:30762000-30782400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr22:30764000-30782200	Weak transcription	Right Atrium	heart
12	chr22:30766400-30782200	Weak transcription	Fetal Kidney	kidney
13	chr22:30767200-30779400	Weak transcription	HSMM	muscle
14	chr22:30767400-30779600	Weak transcription	HSMMtube	muscle
15	chr22:30768600-30781800	Strong transcription	Fetal Stomach	stomach
16	chr22:30769200-30782200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr22:30769200-30782200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr22:30769600-30780400	Strong transcription	Fetal Brain Female	brain
19	chr22:30770200-30781200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:30770400-30779600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:30770400-30780600	Strong transcription	Fetal Intestine Small	intestine
22	chr22:30770400-30780800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:30771200-30780400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr22:30771200-30780600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr22:30771200-30780600	Strong transcription	Brain Germinal Matrix	brain
26	chr22:30771200-30781000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:30771400-30780800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:30771600-30780600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:30771600-30780800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr22:30772000-30780800	Strong transcription	Fetal Muscle Trunk	muscle
31	chr22:30772000-30783000	Weak transcription	Small Intestine	intestine
32	chr22:30772200-30780800	Strong transcription	Fetal Muscle Leg	muscle
33	chr22:30772200-30782000	Weak transcription	NHDF-Ad	bronchial
34	chr22:30772600-30780400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:30772600-30780400	Strong transcription	Placenta	Placenta
36	chr22:30772600-30780800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr22:30772600-30780800	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr22:30772800-30780200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:30772800-30780400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr22:30772800-30780400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:30773000-30779400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:30773000-30779800	Strong transcription	Gastric	stomach
43	chr22:30773000-30780200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr22:30773000-30780400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr22:30773000-30780400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:30773000-30780400	Strong transcription	Stomach Smooth Muscle	stomach
47	chr22:30773000-30780600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:30773200-30780800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr22:30773200-30780800	Strong transcription	Lung	lung
50	chr22:30773800-30782200	Weak transcription	HMEC	breast

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