Variant report

Variant	rs56715005
Chromosome Location	chr22:31362491-31362492
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31360341-31367453	MCF10A-Er-Src	breast:	n/a	n/a
2	SETDB1	chr22:31360480-31362517	U2OS	brain:	n/a	n/a
3	POLR2A	chr22:31362340-31362546	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr22:31361916-31363134	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31354060..31357711-chr22:31360112..31362776,4	K562	blood:
2	chr22:31341919..31343827-chr22:31360898..31363809,2	K562	blood:
3	chr22:31346728..31348525-chr22:31359939..31362603,2	MCF-7	breast:
4	chr22:31360789..31362753-chr22:31489810..31492663,2	MCF-7	breast:
5	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
6	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
7	chr22:31358926..31361303-chr22:31361613..31363630,2	K562	blood:
8	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
9	chr22:31360377..31363179-chr22:31451258..31453241,3	K562	blood:
10	chr22:31362414..31364814-chr22:31884704..31886596,2	K562	blood:
11	chr22:31356394..31358670-chr22:31361446..31363174,2	MCF-7	breast:
12	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:

No data

Variant related genes	Relation type
TUG1	TF binding region
ENSG00000133422	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000184708	Chromatin interaction

rs_ID	r²[population]
rs56686418	0.89[ASN][1000 genomes]
rs58583935	0.89[ASN][1000 genomes]
rs59148334	1.00[ASN][1000 genomes]
rs61151878	0.81[ASN][1000 genomes]
rs9619152	1.00[ASN][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31317600-31364000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:31344600-31363600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:31345400-31364000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:31345600-31364200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:31346000-31364400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr22:31346200-31364200	Weak transcription	Brain Substantia Nigra	brain
7	chr22:31347200-31363000	Weak transcription	Colon Smooth Muscle	Colon
8	chr22:31347200-31364400	Weak transcription	Esophagus	oesophagus
9	chr22:31347400-31363000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr22:31347400-31363800	Weak transcription	NHLF	lung
11	chr22:31347600-31363000	Weak transcription	Spleen	Spleen
12	chr22:31347600-31363400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr22:31347600-31363400	Weak transcription	HMEC	breast
14	chr22:31347600-31364000	Weak transcription	Fetal Kidney	kidney
15	chr22:31348600-31362800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr22:31348800-31363000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:31348800-31363800	Weak transcription	Brain Angular Gyrus	brain
18	chr22:31348800-31364000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr22:31349000-31363000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr22:31349000-31364400	Weak transcription	Aorta	Aorta
21	chr22:31349200-31363600	Weak transcription	Brain Hippocampus Middle	brain
22	chr22:31349200-31364200	Weak transcription	Thymus	Thymus
23	chr22:31349400-31364400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:31349800-31363800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:31349800-31363800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:31349800-31363800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr22:31349800-31363800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr22:31349800-31364200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr22:31350400-31364200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr22:31350600-31363000	Weak transcription	Psoas Muscle	Psoas
31	chr22:31350800-31363000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr22:31350800-31363800	Weak transcription	Brain Anterior Caudate	brain
33	chr22:31351000-31363600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr22:31351000-31364400	Weak transcription	Ovary	ovary
35	chr22:31351800-31363800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr22:31351800-31364000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr22:31352400-31363600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr22:31352600-31363400	Weak transcription	NHEK	skin
39	chr22:31352600-31364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:31352800-31363800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr22:31352800-31364000	Weak transcription	Adipose Nuclei	Adipose
42	chr22:31352800-31364000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr22:31353200-31362800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr22:31353400-31362800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr22:31353400-31363600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:31353400-31363800	Weak transcription	Fetal Intestine Large	intestine
47	chr22:31353400-31364200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr22:31354200-31363400	Weak transcription	Primary B cells from cord blood	blood
49	chr22:31354600-31362800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr22:31354600-31363000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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