Variant report

Variant	rs566049664
Chromosome Location	chr2:64370082-64370083
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	POLR2A	chr2:64370069-64371891	GM19193	blood:	n/a	n/a
2	MXI1	chr2:64369673-64372181	GM12878	blood:	n/a	chr2:64371780-64371795
3	POLR2A	chr2:64369975-64371901	GM19099	blood:	n/a	n/a
4	MXI1	chr2:64369317-64372440	SK-N-SH	brain:	n/a	chr2:64371780-64371795
5	ATF2	chr2:64369889-64370817	GM12878	blood:	n/a	n/a
6	FOS	chr2:64369978-64370200	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr2:64369562-64370933	GM12891	blood:	n/a	n/a
8	FOS	chr2:64369950-64370284	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr2:64369449-64371950	GM18505	blood:	n/a	n/a
10	CHD2	chr2:64370066-64370091	K562	blood:	n/a	n/a
11	CHD1	chr2:64369564-64371574	GM12878	blood:	n/a	chr2:64371014-64371021 chr2:64371091-64371101
12	TBP	chr2:64369940-64370755	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:64369947-64372002	GM12878	blood:	n/a	n/a
14	BCLAF1	chr2:64369625-64371042	GM12878	blood:	n/a	n/a
15	MYC	chr2:64369809-64370762	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:64370063-64371936	GM12892	blood:	n/a	n/a
17	MAFK	chr2:64369960-64370185	HepG2	liver:	n/a	n/a
18	CREB1	chr2:64370045-64370962	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:64369899-64372024	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:64370031-64370696	GM12892	blood:	n/a	n/a
21	CHD1	chr2:64369696-64370921	H1-hESC	embryonic stem cell:	n/a	n/a
22	EBF1	chr2:64370003-64370729	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:64370016-64372037	Raji	blood:	n/a	n/a
24	POLR2A	chr2:64369896-64370891	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:64370006-64371939	GM18951	blood:	n/a	n/a
26	POLR2A	chr2:64369878-64370268	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr2:64369344-64370974	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr2:64369967-64370984	GM12878	blood:	n/a	n/a
29	MTA3	chr2:64369943-64370893	GM12878	blood:	n/a	n/a
30	ZNF143	chr2:64370052-64370189	GM12878	blood:	n/a	n/a
31	ATF2	chr2:64369954-64370701	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:64370069-64371775	GM15510	blood:	n/a	n/a
33	MAZ	chr2:64369968-64372240	IMR90	lung:	n/a	chr2:64371768-64371778 chr2:64371780-64371789
34	POLR2A	chr2:64368820-64370982	GM12878	blood:	n/a	n/a
35	PML	chr2:64369983-64370769	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64245248..64247097-chr2:64369855..64371570,2	MCF-7	breast:
2	chr2:64368361..64371459-chr2:64452988..64456076,3	K562	blood:

Variant related genes	Relation type
ENSG00000225889	TF binding region
ENSG00000225889	Chromatin interaction
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv9957	chr2:64341714-64518231	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	24 gene(s)	inside rSNPs	diseases
11	esv13275	chr2:64342247-64515169	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1012905	chr2:64342469-64508983	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv1013735	chr2:64342469-64512286	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv3693324	chr2:64342469-64513207	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv999608	chr2:64342469-64517459	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1000390	chr2:64343861-64512286	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	esv2756924	chr2:64349202-64521290	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	nsv1004574	chr2:64360195-64478171	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv1004899	chr2:64369300-64513607	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv535769	chr2:64369300-64513607	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Genic 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	24 gene(s)	inside rSNPs	diseases
21	nsv1015084	chr2:64369734-64512286	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
22	esv3373290	chr2:64370073-64372621	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr2:64340400-64370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:64364000-64370400	Weak transcription	Lung	lung
3	chr2:64365400-64370800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:64365800-64370200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:64365800-64370400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:64365800-64370400	Weak transcription	Esophagus	oesophagus
7	chr2:64366400-64371800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:64366800-64371200	Active TSS	Right Atrium	heart
9	chr2:64367000-64370200	Weak transcription	Left Ventricle	heart
10	chr2:64367000-64370600	Weak transcription	Gastric	stomach
11	chr2:64367200-64372400	Active TSS	GM12878-XiMat	blood
12	chr2:64367800-64370200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr2:64368200-64371800	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr2:64368200-64372000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:64368600-64370200	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr2:64368600-64370400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:64368600-64370400	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr2:64368600-64370600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:64368600-64370600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:64368600-64371600	Active TSS	Fetal Muscle Leg	muscle
21	chr2:64368600-64371800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr2:64368600-64372000	Active TSS	Brain Angular Gyrus	brain
23	chr2:64368800-64370400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:64368800-64370600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr2:64368800-64370600	Flanking Active TSS	Dnd41	blood
26	chr2:64368800-64371800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:64368800-64371800	Active TSS	Thymus	Thymus
28	chr2:64368800-64372000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:64368800-64372000	Active TSS	Right Ventricle	heart
30	chr2:64368800-64372200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:64369000-64370200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:64369000-64370200	Weak transcription	Small Intestine	intestine
33	chr2:64369000-64370600	Weak transcription	Spleen	Spleen
34	chr2:64369000-64370800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:64369000-64371600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:64369000-64371600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:64369000-64371600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:64369000-64371600	Active TSS	Primary T cells fromperipheralblood	blood
39	chr2:64369000-64371800	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr2:64369000-64371800	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr2:64369000-64371800	Active TSS	NHDF-Ad	bronchial
42	chr2:64369000-64372000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:64369000-64372000	Active TSS	Aorta	Aorta
44	chr2:64369000-64372000	Active TSS	Colonic Mucosa	Colon
45	chr2:64369000-64372000	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr2:64369000-64372000	Active TSS	Fetal Intestine Small	intestine
47	chr2:64369000-64372000	Active TSS	Fetal Stomach	stomach
48	chr2:64369000-64372000	Active TSS	Psoas Muscle	Psoas
49	chr2:64369000-64372000	Active TSS	Rectal Smooth Muscle	rectum
50	chr2:64369000-64372000	Active TSS	Skeletal Muscle Male	skeletal muscle

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