Variant report

Variant	rs544179252
Chromosome Location	chr22:31030952-31030953
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	RCOR1	chr22:31030391-31031594	GM12878	blood:	n/a	n/a
4	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
5	POLR2A	chr22:31030389-31032098	HUVEC	blood vessel:	n/a	n/a
6	MAX	chr22:31030378-31030991	ECC-1	luminal epithelium:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
7	JUND	chr22:31030410-31031182	K562	blood:	n/a	chr22:31031015-31031025 chr22:31031014-31031026 chr22:31031015-31031025 chr22:31031016-31031024
8	POLR2A	chr22:31030221-31032151	U87	brain:	n/a	n/a
9	POLR2A	chr22:31030277-31032167	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr22:31030494-31031981	GM19193	blood:	n/a	n/a
11	POLR2A	chr22:31030291-31032145	U87	brain:	n/a	n/a
12	IRF4	chr22:31030478-31031187	GM12878	blood:	n/a	n/a
13	RELA	chr22:31030386-31031564	GM19099	blood:	n/a	n/a
14	PBX3	chr22:31030334-31031909	SK-N-SH	brain:	n/a	n/a
15	CTCF	chr22:31030940-31031090	GM12868	blood:	n/a	n/a
16	MAX	chr22:31030357-31031076	A549	lung:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
17	RELA	chr22:31030525-31031994	GM15510	blood:	n/a	n/a
18	MAX	chr22:31030347-31031210	SK-N-SH	brain:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
19	EBF1	chr22:31030471-31031677	GM12878	blood:	n/a	chr22:31031032-31031043 chr22:31031141-31031151
20	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
21	EP300	chr22:31030282-31032076	SK-N-SH	brain:	n/a	chr22:31031148-31031157 chr22:31031731-31031740
22	POLR2A	chr22:31030646-31031917	HUVEC	blood vessel:	n/a	n/a
23	MAZ	chr22:31030211-31032738	IMR90	lung:	n/a	chr22:31031998-31032008 chr22:31030749-31030758
24	ELF1	chr22:31030863-31031239	K562	blood:	n/a	chr22:31031088-31031101
25	BATF	chr22:31030413-31031139	GM12878	blood:	n/a	chr22:31031013-31031023
26	RUNX3	chr22:31030348-31031944	GM12878	blood:	n/a	n/a
27	CTCF	chr22:31030920-31031301	H1-hESC	embryonic stem cell:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
28	MAZ	chr22:31030421-31031917	GM12878	blood:	n/a	chr22:31030749-31030758
29	RAD21	chr22:31030280-31031603	SK-N-SH_RA	brain:	n/a	chr22:31030567-31030586 chr22:31031143-31031156 chr22:31030572-31030584 chr22:31031145-31031157 chr22:31031446-31031456 chr22:31031511-31031524 chr22:31030571-31030580 chr22:31031145-31031155 chr22:31030568-31030582
30	FOS	chr22:31030935-31031057	MCF10A-Er-Src	breast:	n/a	chr22:31031015-31031025 chr22:31031014-31031026 chr22:31031015-31031025 chr22:31031014-31031025 chr22:31031016-31031024
31	RAD21	chr22:31030311-31030980	A549	lung:	n/a	chr22:31030567-31030586 chr22:31030572-31030584 chr22:31030571-31030580 chr22:31030568-31030582
32	FOS	chr22:31030490-31031473	HUVEC	blood vessel:	n/a	chr22:31031015-31031025 chr22:31031014-31031026 chr22:31031015-31031025 chr22:31031014-31031025 chr22:31031016-31031024
33	MYC	chr22:31030874-31031172	HUVEC	blood vessel:	n/a	n/a
34	RAD21	chr22:31030364-31030959	MCF-7	breast:	n/a	chr22:31030567-31030586 chr22:31030572-31030584 chr22:31030571-31030580 chr22:31030568-31030582
35	CTCF	chr22:31030299-31031635	IMR90	lung:	n/a	chr22:31030569-31030582 chr22:31031144-31031154 chr22:31030566-31030584 chr22:31031444-31031462 chr22:31030568-31030589 chr22:31031139-31031157 chr22:31030569-31030582 chr22:31031446-31031459 chr22:31030571-31030581 chr22:31030567-31030583 chr22:31031450-31031459 chr22:31030569-31030578
36	RUNX3	chr22:31030364-31031303	GM12878	blood:	n/a	n/a
37	MAX	chr22:31030337-31031926	SK-N-SH	brain:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
38	ZBTB7A	chr22:31030445-31032368	ECC-1	luminal epithelium:	n/a	chr22:31031147-31031156
39	PBX3	chr22:31030346-31031170	SK-N-SH	brain:	n/a	n/a
40	RCOR1	chr22:31030177-31032959	IMR90	lung:	n/a	n/a
41	MAX	chr22:31030384-31031016	A549	lung:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
42	KAP1	chr22:31030331-31031030	HEK293	kidney:	n/a	n/a
43	ZNF143	chr22:31030360-31031919	GM12878	blood:	n/a	chr22:31031730-31031740 chr22:31031727-31031745 chr22:31031518-31031528 chr22:31030975-31030985
44	BATF	chr22:31030831-31031102	GM12878	blood:	n/a	chr22:31031013-31031023
45	FOXP2	chr22:31030420-31031201	PFSK-1	brain:	n/a	n/a
46	NFIC	chr22:31030849-31031490	GM12878	blood:	n/a	n/a
47	MAX	chr22:31030424-31031456	NB4	blood:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
48	MYC	chr22:31030429-31031897	K562	blood:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
49	RAD21	chr22:31030239-31031964	H1-hESC	embryonic stem cell:	n/a	chr22:31030567-31030586 chr22:31031143-31031156 chr22:31030572-31030584 chr22:31031145-31031157 chr22:31031446-31031456 chr22:31031511-31031524 chr22:31030571-31030580 chr22:31031145-31031155 chr22:31030568-31030582
50	POLR2A	chr22:31030423-31032124	HUVEC	blood vessel:	n/a	n/a

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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
2	chr22:31025200-31031200	Weak transcription	Right Atrium	heart
3	chr22:31026400-31031000	Weak transcription	Fetal Heart	heart
4	chr22:31030200-31031000	Enhancers	Brain Hippocampus Middle	brain
5	chr22:31030200-31031000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr22:31030200-31031000	Enhancers	Fetal Muscle Trunk	muscle
7	chr22:31030200-31031000	Enhancers	Placenta	Placenta
8	chr22:31030200-31031000	Enhancers	Fetal Stomach	stomach
9	chr22:31030200-31031400	Enhancers	Dnd41	blood
10	chr22:31030400-31031000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31030400-31031000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:31030400-31031000	Enhancers	NH-A	brain
13	chr22:31030400-31031200	Enhancers	Fetal Muscle Leg	muscle
14	chr22:31030400-31031200	Enhancers	Stomach Mucosa	stomach
15	chr22:31030400-31031600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:31030400-31031800	Enhancers	Liver	Liver
17	chr22:31030600-31031000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:31030600-31031000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:31030600-31031000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr22:31030600-31031000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr22:31030600-31031000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr22:31030600-31031000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr22:31030600-31031000	Enhancers	Primary T cells from cord blood	blood
24	chr22:31030600-31031000	Enhancers	Colon Smooth Muscle	Colon
25	chr22:31030600-31031000	Flanking Active TSS	Fetal Brain Female	brain
26	chr22:31030600-31031000	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr22:31030600-31031200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr22:31030600-31031200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:31030600-31031200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:31030600-31031200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr22:31030600-31031200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:31030600-31031200	Enhancers	Fetal Intestine Large	intestine
33	chr22:31030600-31031200	Enhancers	Fetal Lung	lung
34	chr22:31030600-31031200	Enhancers	Left Ventricle	heart
35	chr22:31030600-31031200	Enhancers	Pancreas	Pancrea
36	chr22:31030600-31031200	Flanking Active TSS	Thymus	Thymus
37	chr22:31030600-31031200	Enhancers	Spleen	Spleen
38	chr22:31030600-31031200	Enhancers	HMEC	breast
39	chr22:31030600-31031200	Enhancers	K562	blood
40	chr22:31030600-31031400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr22:31030600-31031400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:31030600-31031400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr22:31030600-31031400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr22:31030600-31031400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr22:31030600-31031400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:31030600-31031400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr22:31030600-31031400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr22:31030600-31031400	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr22:31030600-31031400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr22:31030600-31031400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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