Variant report

Variant	rs5997801
Chromosome Location	chr22:31283769-31283770
allele	A/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	POLR2A	chr22:31283416-31284354	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:31283688-31284269	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:31283449-31283914	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr22:31283684-31283999	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr22:31283325-31283776	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MORC2-4	chr22:31282046-31283901	NONHSAT084812

Variant related genes	Relation type
OSBP2	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12158241	1.00[AMR][1000 genomes]
rs12158547	1.00[AMR][1000 genomes]
rs12159387	1.00[AMR][1000 genomes]
rs12160041	1.00[AMR][1000 genomes]
rs12160446	1.00[AMR][1000 genomes]
rs12160613	1.00[AMR][1000 genomes]
rs12161052	1.00[AMR][1000 genomes]
rs13056417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994355	1.00[AMR][1000 genomes]
rs5994359	1.00[AMR][1000 genomes]
rs5994361	1.00[AMR][1000 genomes]
rs5997799	1.00[AFR][1000 genomes]
rs5997804	1.00[AMR][1000 genomes]
rs5997805	1.00[AMR][1000 genomes]
rs5997809	1.00[AMR][1000 genomes]
rs5997813	1.00[AMR][1000 genomes]
rs5997814	1.00[AMR][1000 genomes]
rs5997815	1.00[AMR][1000 genomes]
rs5997816	1.00[AMR][1000 genomes]
rs5997817	1.00[AMR][1000 genomes]
rs5997819	1.00[AMR][1000 genomes]
rs5997825	1.00[AMR][1000 genomes]
rs5997826	1.00[AMR][1000 genomes]
rs5997827	1.00[AMR][1000 genomes]
rs5997828	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:31266400-31295200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:31269400-31284200	Weak transcription	NHEK	skin
4	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr22:31275200-31284200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr22:31275800-31284800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr22:31275800-31285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr22:31275800-31289400	Weak transcription	NHDF-Ad	bronchial
9	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
10	chr22:31278000-31290000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:31278200-31284400	Weak transcription	Gastric	stomach
12	chr22:31278200-31285200	Weak transcription	Esophagus	oesophagus
13	chr22:31278200-31286600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:31278200-31288200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:31278400-31286200	Weak transcription	Fetal Muscle Leg	muscle
16	chr22:31278400-31288600	Weak transcription	HSMMtube	muscle
17	chr22:31278400-31291800	Weak transcription	HMEC	breast
18	chr22:31278400-31292600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr22:31278600-31285600	Weak transcription	Liver	Liver
21	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
23	chr22:31278800-31301600	Weak transcription	A549	lung
24	chr22:31279400-31288600	Weak transcription	Hela-S3	cervix
25	chr22:31279600-31285600	Weak transcription	HepG2	liver
26	chr22:31280000-31285000	Weak transcription	Right Ventricle	heart
27	chr22:31280000-31285200	Weak transcription	Left Ventricle	heart
28	chr22:31280200-31287200	Genic enhancers	Fetal Intestine Small	intestine
29	chr22:31280200-31288200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:31280600-31284600	Weak transcription	Fetal Lung	lung
31	chr22:31281400-31288800	Weak transcription	Lung	lung
32	chr22:31281600-31285200	Weak transcription	Brain Angular Gyrus	brain
33	chr22:31281600-31286600	Weak transcription	K562	blood
34	chr22:31281800-31284200	Weak transcription	Placenta	Placenta
35	chr22:31282000-31285200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr22:31282200-31285000	Weak transcription	Primary T cells from cord blood	blood
37	chr22:31282200-31285600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr22:31282200-31289000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr22:31282200-31289600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr22:31282200-31294400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr22:31282400-31285400	Weak transcription	Adipose Nuclei	Adipose
42	chr22:31282400-31285600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr22:31282600-31287800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr22:31282600-31287800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr22:31282800-31284800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr22:31282800-31294200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr22:31283000-31285000	Weak transcription	Ovary	ovary
48	chr22:31283000-31287200	Genic enhancers	Fetal Intestine Large	intestine
49	chr22:31283000-31290600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr22:31283000-31306600	Weak transcription	Fetal Heart	heart

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