Variant report

Variant	rs5998510
Chromosome Location	chr22:32869073-32869074
allele	A/C
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	CTCF	chr22:32868947-32870336	A549	lung:	n/a	chr22:32869496-32869514 chr22:32869491-32869512
2	MXI1	chr22:32869051-32869909	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr22:32869025-32871958	SK-N-SH	brain:	n/a	chr22:32870774-32870787 chr22:32869494-32869513
4	CTCF	chr22:32869040-32869190	HCFaa	heart:	n/a	n/a
5	CTCF	chr22:32869040-32869190	HMEC	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:32866340..32868922-chr22:32868961..32870500,2	K562	blood:
2	chr22:32774484..32775191-chr22:32869003..32869550,2	MCF-7	breast:
3	22:32868055-32872511..22:33253287-33262063	Hela-S3	cervix:
4	22:32529813-32538538..22:32868055-32872511	K562	blood:
5	22:32868055-32872511..22:33178968-33185617	Hela-S3	cervix:
6	chr22:32862107..32865404-chr22:32866930..32869898,3	K562	blood:
7	22:32284948-32287956..22:32868055-32872511	Hela-S3	cervix:
8	22:32513817-32522138..22:32868055-32872511	K562	blood:
9	22:32360288-32405313..22:32868055-32872511	K562	blood:
10	22:31936958-31958600..22:32868055-32872511	K562	blood:

Variant related genes	Relation type
FBXO7	TF binding region
ENSG00000239674	Chromatin interaction
ENSG00000232707	Chromatin interaction
ENSG00000183531	Chromatin interaction
ENSG00000227813	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000229673	Chromatin interaction
ENSG00000234479	Chromatin interaction

rs_ID	r²[population]
rs12628767	0.88[ASN][1000 genomes]
rs3761435	0.96[ASN][1000 genomes]
rs5994572	0.87[EUR][1000 genomes]
rs5994573	0.84[ASN][1000 genomes]
rs7292178	0.83[ASN][1000 genomes]

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32865200-32869800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:32866000-32869400	Weak transcription	Brain Substantia Nigra	brain
3	chr22:32866000-32869600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:32866000-32869800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr22:32866200-32869200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:32866200-32869200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:32866200-32869400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr22:32866200-32869600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr22:32866200-32869600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:32866200-32869600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:32866200-32869600	Weak transcription	HSMMtube	muscle
12	chr22:32866200-32869600	Weak transcription	K562	blood
13	chr22:32866200-32869600	Weak transcription	NHLF	lung
14	chr22:32866200-32869800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr22:32866200-32869800	Weak transcription	HSMM	muscle
16	chr22:32866400-32869200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:32866400-32869200	Weak transcription	Brain Hippocampus Middle	brain
18	chr22:32866400-32869400	Weak transcription	Colon Smooth Muscle	Colon
19	chr22:32866400-32869400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr22:32866400-32869600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr22:32866400-32869600	Weak transcription	Brain Anterior Caudate	brain
22	chr22:32866400-32869600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr22:32866400-32869600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:32866400-32869800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr22:32866600-32869600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:32866600-32869600	Weak transcription	Brain Angular Gyrus	brain
27	chr22:32866600-32869600	Weak transcription	NHDF-Ad	bronchial
28	chr22:32866800-32869600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:32866800-32869600	Weak transcription	Fetal Brain Male	brain
30	chr22:32867200-32869600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:32868400-32869400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:32868800-32869200	Weak transcription	A549	lung
33	chr22:32868800-32869200	Weak transcription	Monocytes-CD14+_RO01746	blood

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