Variant report

Variant	rs550364239
Chromosome Location	chr22:31030716-31030717
allele	C/T
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	JUND	chr22:31030419-31031210	H1-hESC	embryonic stem cell:	n/a	chr22:31031015-31031025 chr22:31031014-31031026 chr22:31031015-31031025 chr22:31031016-31031024
2	KAP1	chr22:31030293-31031089	U2OS	brain:	n/a	n/a
3	CTCF	chr22:31030295-31030828	MCF-7	breast:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
4	RCOR1	chr22:31030391-31031594	GM12878	blood:	n/a	n/a
5	RAD21	chr22:31030159-31033009	SK-N-SH	brain:	n/a	chr22:31030567-31030586 chr22:31031143-31031156 chr22:31030572-31030584 chr22:31032159-31032171 chr22:31031145-31031157 chr22:31031995-31032005 chr22:31031446-31031456 chr22:31031511-31031524 chr22:31030571-31030580 chr22:31031145-31031155 chr22:31030568-31030582
6	POLR2A	chr22:31030389-31032098	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr22:31030430-31030728	Gliobla	brain:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
8	MAX	chr22:31030378-31030991	ECC-1	luminal epithelium:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
9	JUND	chr22:31030410-31031182	K562	blood:	n/a	chr22:31031015-31031025 chr22:31031014-31031026 chr22:31031015-31031025 chr22:31031016-31031024
10	ATF2	chr22:31030345-31030798	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr22:31030350-31030883	MCF-7	breast:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
12	BHLHE40	chr22:31030382-31030783	K562	blood:	n/a	n/a
13	CTCF	chr22:31030433-31030719	GM19239	blood:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
14	POLR2A	chr22:31030221-31032151	U87	brain:	n/a	n/a
15	MAFK	chr22:31030402-31030913	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr22:31030277-31032167	HUVEC	blood vessel:	n/a	n/a
17	RAD21	chr22:31030347-31030899	MCF-7	breast:	n/a	chr22:31030567-31030586 chr22:31030572-31030584 chr22:31030571-31030580 chr22:31030568-31030582
18	MAX	chr22:31030346-31030910	MCF-7	breast:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
19	POLR2A	chr22:31030494-31031981	GM19193	blood:	n/a	n/a
20	CTCF	chr22:31030359-31030784	K562	blood:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
21	POLR2A	chr22:31030291-31032145	U87	brain:	n/a	n/a
22	YY1	chr22:31030382-31030770	SK-N-SH_RA	brain:	n/a	chr22:31030572-31030586
23	MYC	chr22:31030505-31030871	MCF10A-Er-Src	breast:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
24	RAD21	chr22:31030400-31030792	HepG2	liver:	n/a	chr22:31030567-31030586 chr22:31030572-31030584 chr22:31030571-31030580 chr22:31030568-31030582
25	IRF4	chr22:31030478-31031187	GM12878	blood:	n/a	n/a
26	RELA	chr22:31030386-31031564	GM19099	blood:	n/a	n/a
27	RFX5	chr22:31030424-31030835	Hela-S3	cervix:	n/a	n/a
28	TCF7L2	chr22:31030356-31030829	Hela-S3	cervix:	n/a	n/a
29	BHLHE40	chr22:31030421-31030752	HepG2	liver:	n/a	n/a
30	GTF2F1	chr22:31030467-31030757	Hela-S3	cervix:	n/a	n/a
31	TCF7L2	chr22:31030419-31030822	HEK293	kidney:	n/a	n/a
32	PBX3	chr22:31030334-31031909	SK-N-SH	brain:	n/a	n/a
33	MYBL2	chr22:31030410-31030896	HepG2	liver:	n/a	n/a
34	FOS	chr22:31030431-31030757	MCF10A-Er-Src	breast:	n/a	n/a
35	MAX	chr22:31030357-31031076	A549	lung:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
36	RELA	chr22:31030525-31031994	GM15510	blood:	n/a	n/a
37	MAFK	chr22:31030545-31030727	HepG2	liver:	n/a	n/a
38	CTCF	chr22:31030389-31030746	H1-hESC	embryonic stem cell:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
39	MAX	chr22:31030347-31031210	SK-N-SH	brain:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
40	BRCA1	chr22:31030427-31030750	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr22:31030414-31030765	HCT-116	colon:	n/a	n/a
42	EBF1	chr22:31030471-31031677	GM12878	blood:	n/a	chr22:31031032-31031043 chr22:31031141-31031151
43	SMC3	chr22:31030099-31032972	SK-N-SH	brain:	n/a	chr22:31032378-31032385 chr22:31031145-31031155 chr22:31031446-31031460 chr22:31031446-31031456 chr22:31030568-31030575 chr22:31030568-31030582 chr22:31032408-31032418
44	CTCF	chr22:31030418-31030726	ECC-1	luminal epithelium:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
45	CTCF	chr22:31030389-31030755	K562	blood:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
46	CTCF	chr22:31030419-31030760	GM12892	blood:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
47	CTCF	chr22:31030435-31030716	K562	blood:	n/a	chr22:31030569-31030582 chr22:31030566-31030584 chr22:31030568-31030589 chr22:31030569-31030582 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31030569-31030578
48	MAFK	chr22:31030269-31030729	H1-hESC	embryonic stem cell:	n/a	n/a
49	YY1	chr22:31030361-31030766	GM12878	blood:	n/a	chr22:31030572-31030586
50	EP300	chr22:31030282-31032076	SK-N-SH	brain:	n/a	chr22:31031148-31031157 chr22:31031731-31031740

No.	Distal block	Cell Line	Cell type
1	chr22:31030552..31033273-chr22:31061698..31065017,4	MCF-7	breast:
2	chr22:31030338..31033016-chr22:31062140..31065480,4	MCF-7	breast:
3	chr22:31030229..31031056-chr22:31150888..31151995,5	MCF-7	breast:
4	chr22:31030117..31031164-chr22:31286279..31286856,3	MCF-7	breast:

Variant related genes	Relation type
SLC35E4	TF binding region
ENSG00000167065	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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	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
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv829172	chr22:31024057-31032291	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3374115	chr22:31030477-31033325	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
2	chr22:31014000-31030800	Weak transcription	Gastric	stomach
3	chr22:31014000-31030800	Weak transcription	Ovary	ovary
4	chr22:31019200-31030800	Weak transcription	Lung	lung
5	chr22:31025200-31031200	Weak transcription	Right Atrium	heart
6	chr22:31026400-31031000	Weak transcription	Fetal Heart	heart
7	chr22:31030200-31030800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr22:31030200-31030800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr22:31030200-31030800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr22:31030200-31030800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:31030200-31030800	Enhancers	Hela-S3	cervix
12	chr22:31030200-31031000	Enhancers	Brain Hippocampus Middle	brain
13	chr22:31030200-31031000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:31030200-31031000	Enhancers	Fetal Muscle Trunk	muscle
15	chr22:31030200-31031000	Enhancers	Placenta	Placenta
16	chr22:31030200-31031000	Enhancers	Fetal Stomach	stomach
17	chr22:31030200-31031400	Enhancers	Dnd41	blood
18	chr22:31030400-31030800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:31030400-31030800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr22:31030400-31030800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:31030400-31030800	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr22:31030400-31030800	Enhancers	Fetal Thymus	thymus
23	chr22:31030400-31030800	Enhancers	HSMM	muscle
24	chr22:31030400-31030800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr22:31030400-31030800	Enhancers	NHDF-Ad	bronchial
26	chr22:31030400-31031000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:31030400-31031000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:31030400-31031000	Enhancers	NH-A	brain
29	chr22:31030400-31031200	Enhancers	Fetal Muscle Leg	muscle
30	chr22:31030400-31031200	Enhancers	Stomach Mucosa	stomach
31	chr22:31030400-31031600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:31030400-31031800	Enhancers	Liver	Liver
33	chr22:31030600-31030800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
34	chr22:31030600-31030800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr22:31030600-31030800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr22:31030600-31030800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr22:31030600-31030800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:31030600-31030800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:31030600-31030800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr22:31030600-31030800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:31030600-31030800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr22:31030600-31030800	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr22:31030600-31030800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:31030600-31030800	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr22:31030600-31030800	Enhancers	Brain Germinal Matrix	brain
46	chr22:31030600-31030800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr22:31030600-31030800	Enhancers	Esophagus	oesophagus
48	chr22:31030600-31030800	Enhancers	Fetal Intestine Small	intestine
49	chr22:31030600-31030800	Flanking Active TSS	Fetal Kidney	kidney
50	chr22:31030600-31030800	Enhancers	Right Ventricle	heart

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