Variant report

Variant	rs529322049
Chromosome Location	chr2:54196923-54196924
allele	A/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	CHD1	chr2:54196785-54197817	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:54195426-54199062	MCF10A-Er-Src	breast:	n/a	n/a
3	RAD21	chr2:54196385-54197303	IMR90	lung:	n/a	n/a
4	MTA3	chr2:54196807-54197778	GM12878	blood:	n/a	n/a
5	SIN3A	chr2:54196870-54198934	H1-hESC	embryonic stem cell:	n/a	chr2:54197564-54197573
6	MXI1	chr2:54196383-54198843	HepG2	liver:	n/a	n/a
7	GATA3	chr2:54196322-54196990	MCF-7	breast:	n/a	n/a
8	POLR2A	chr2:54196917-54198597	K562	blood:	n/a	n/a
9	TEAD4	chr2:54196890-54197711	K562	blood:	n/a	n/a
10	MYC	chr2:54196468-54198557	K562	blood:	n/a	chr2:54196587-54196596
11	MXI1	chr2:54196488-54198519	Hela-S3	cervix:	n/a	n/a
12	MAFK	chr2:54196386-54197022	K562	blood:	n/a	chr2:54196587-54196602 chr2:54196603-54196618 chr2:54196589-54196598 chr2:54196582-54196602
13	SIN3AK20	chr2:54196888-54197404	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr2:54196861-54197933	GM12878	blood:	n/a	n/a
15	CEBPB	chr2:54196460-54197128	K562	blood:	n/a	chr2:54196711-54196723
16	ZNF384	chr2:54196504-54197170	K562	blood:	n/a	n/a
17	POLR2A	chr2:54195490-54199155	PBDE	blood:	n/a	n/a
18	TBL1XR1	chr2:54196197-54197202	K562	blood:	n/a	n/a
19	POLR2A	chr2:54196918-54197926	GM12891	blood:	n/a	n/a
20	POLR2A	chr2:54196451-54198831	Hela-S3	cervix:	n/a	n/a
21	FOXA1	chr2:54196303-54196960	HepG2	liver:	n/a	chr2:54196617-54196632
22	SMC3	chr2:54196502-54197049	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:54196385-54197059	MCF10A-Er-Src	breast:	n/a	n/a
24	TEAD4	chr2:54196330-54197210	HepG2	liver:	n/a	n/a
25	PBX3	chr2:54196273-54196956	SK-N-SH	brain:	n/a	n/a
26	SIN3AK20	chr2:54196210-54197028	MCF-7	breast:	n/a	n/a
27	MXI1	chr2:54196016-54199237	IMR90	lung:	n/a	n/a
28	POLR2A	chr2:54196915-54199067	GM12891	blood:	n/a	n/a
29	TCF12	chr2:54196235-54196970	A549	lung:	n/a	n/a
30	FOXA2	chr2:54195632-54197176	HepG2	liver:	n/a	n/a
31	MAFK	chr2:54196348-54197568	Hela-S3	cervix:	n/a	chr2:54196587-54196602 chr2:54196603-54196618 chr2:54196589-54196598 chr2:54196582-54196602
32	POLR2A	chr2:54196330-54199220	IMR90	lung:	n/a	n/a
33	FOSL2	chr2:54196185-54196925	A549	lung:	n/a	chr2:54196587-54196598 chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597
34	ZNF263	chr2:54196558-54198288	HEK293-T-REx	kidney:	n/a	n/a
35	CHD1	chr2:54195365-54199244	IMR90	lung:	n/a	n/a
36	MXI1	chr2:54196286-54198806	GM12878	blood:	n/a	n/a
37	MYBL2	chr2:54196248-54196935	HepG2	liver:	n/a	n/a
38	UBTF	chr2:54196300-54198641	K562	blood:	n/a	n/a
39	POLR2A	chr2:54196389-54198713	GM12878	blood:	n/a	n/a
40	JUN	chr2:54195869-54197641	K562	blood:	n/a	chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597
41	MAZ	chr2:54196115-54199037	IMR90	lung:	n/a	chr2:54196587-54196596
42	JUND	chr2:54196374-54197706	K562	blood:	n/a	chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597 chr2:54196586-54196597
43	MAFF	chr2:54196352-54197130	K562	blood:	n/a	chr2:54196586-54196604
44	MXI1	chr2:54195676-54199239	SK-N-SH	brain:	n/a	n/a
45	JUND	chr2:54196276-54197101	Hela-S3	cervix:	n/a	chr2:54196588-54196596 chr2:54196588-54196596 chr2:54196584-54196595 chr2:54196589-54196596 chr2:54196587-54196597 chr2:54196586-54196597
46	CEBPB	chr2:54196423-54197188	A549	lung:	n/a	chr2:54196711-54196723
47	POLR2A	chr2:54196305-54197770	K562	blood:	n/a	n/a
48	BHLHE40	chr2:54196508-54196936	K562	blood:	n/a	n/a
49	MAX	chr2:54196460-54198578	Hela-S3	cervix:	n/a	chr2:54196587-54196596
50	POLR2A	chr2:54196472-54199174	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30583021..30583813-chr2:54196749..54197540,2	Hela-S3	cervix:
2	chr2:54174064..54177025-chr2:54196606..54198334,2	K562	blood:
3	chr2:54195012..54197478-chr2:54219368..54222229,2	K562	blood:
4	chr2:54185625..54188123-chr2:54194333..54197670,3	MCF-7	breast:
5	chr2:54195792..54198215-chr2:55457941..55460893,2	K562	blood:
6	chr2:54184275..54188127-chr2:54193177..54197889,6	K562	blood:
7	chr2:54157567..54166967-chr2:54194910..54201681,12	MCF-7	breast:
8	chr2:54196188..54197004-chr20:2451334..2451980,2	NB4	blood:
9	chr2:54196743..54198781-chr2:54341566..54344110,2	K562	blood:
10	chr2:54196421..54198197-chr2:55274517..55277399,2	MCF-7	breast:
11	chr2:54174802..54180100-chr2:54196834..54199105,5	K562	blood:
12	chr2:54195961..54197468-chr2:54240342..54242610,2	MCF-7	breast:
13	chr2:54194885..54197429-chr2:55459526..55461126,2	MCF-7	breast:
14	chr2:54194904..54197235-chr2:54307312..54309509,2	K562	blood:
15	chr2:54196664..54197534-chr9:136649238..136649738,2	Hela-S3	cervix:

Variant related genes	Relation type
ACYP2	TF binding region
ENSG00000170634	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000125835	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000068878	Chromatin interaction
ENSG00000241114	Chromatin interaction
ENSG00000115310	Chromatin interaction
ENSG00000162994	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv3425017	chr2:54196873-54199421	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54190400-54197000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:54190600-54197000	Weak transcription	Esophagus	oesophagus
3	chr2:54192600-54197000	Weak transcription	Spleen	Spleen
4	chr2:54194000-54197000	Weak transcription	Gastric	stomach
5	chr2:54194000-54198800	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:54194400-54197000	Flanking Active TSS	Dnd41	blood
7	chr2:54194800-54198800	Active TSS	Osteobl	bone
8	chr2:54194800-54199400	Active TSS	HSMMtube	muscle
9	chr2:54195000-54198800	Active TSS	HMEC	breast
10	chr2:54195000-54199200	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:54195000-54199400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:54195200-54197000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:54195200-54197400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr2:54195200-54199200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr2:54195200-54199400	Active TSS	HSMM	muscle
16	chr2:54195400-54197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:54195400-54197000	Weak transcription	Lung	lung
18	chr2:54195400-54197000	Weak transcription	Pancreas	Pancrea
19	chr2:54195400-54197200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr2:54195400-54197400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:54195400-54198000	Active TSS	Right Atrium	heart
22	chr2:54195400-54198600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:54195400-54199000	Active TSS	Left Ventricle	heart
24	chr2:54195400-54199000	Active TSS	Right Ventricle	heart
25	chr2:54195400-54199200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:54195400-54199200	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:54195400-54199200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr2:54195400-54199200	Active TSS	Psoas Muscle	Psoas
29	chr2:54195400-54199400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:54195600-54197200	Flanking Active TSS	Fetal Brain Male	brain
31	chr2:54195600-54197200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:54195600-54198800	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr2:54195600-54198800	Active TSS	Stomach Smooth Muscle	stomach
34	chr2:54195600-54199000	Active TSS	Aorta	Aorta
35	chr2:54195600-54199000	Active TSS	Fetal Muscle Leg	muscle
36	chr2:54195600-54199200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr2:54195600-54199200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:54195800-54197000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr2:54195800-54197000	Weak transcription	Small Intestine	intestine
40	chr2:54195800-54197200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:54195800-54197400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr2:54195800-54198800	Active TSS	K562	blood
43	chr2:54195800-54198800	Active TSS	NHEK	skin
44	chr2:54195800-54199000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:54195800-54199000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:54195800-54199200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr2:54195800-54199200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:54195800-54199200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:54195800-54199200	Active TSS	Ovary	ovary
50	chr2:54195800-54199200	Active TSS	NHDF-Ad	bronchial

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