Variant report

Variant	rs539630775
Chromosome Location	chr2:191272879-191272880
allele	C/G
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	YY1	chr2:191272660-191273685	GM12878	blood:	n/a	chr2:191273279-191273290 chr2:191272840-191272851 chr2:191272795-191272809 chr2:191272946-191272957 chr2:191272840-191272849 chr2:191273489-191273503 chr2:191273492-191273506 chr2:191272925-191272934
2	POLR2A	chr2:191272221-191274903	PBDE	blood:	n/a	n/a
3	EP300	chr2:191272581-191273835	ECC-1	luminal epithelium:	n/a	chr2:191273202-191273218 chr2:191272924-191272933 chr2:191273586-191273602 chr2:191273692-191273706 chr2:191272795-191272811 chr2:191272864-191272880 chr2:191272792-191272808 chr2:191273214-191273223 chr2:191273327-191273343 chr2:191272841-191272850
4	PML	chr2:191272148-191273885	GM12878	blood:	n/a	n/a
5	SMARCB1	chr2:191272424-191273869	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr2:191272446-191273965	GM12878	blood:	n/a	n/a
7	ZNF143	chr2:191272568-191272894	H1-hESC	embryonic stem cell:	n/a	chr2:191272692-191272710
8	MXI1	chr2:191271838-191274774	SK-N-SH	brain:	n/a	n/a
9	MAX	chr2:191272676-191273691	K562	blood:	n/a	chr2:191272940-191272950 chr2:191273660-191273670
10	POLR2A	chr2:191272312-191272982	GM12891	blood:	n/a	n/a
11	MYC	chr2:191272821-191273939	MCF10A-Er-Src	breast:	n/a	chr2:191272940-191272950 chr2:191273660-191273670
12	YY1	chr2:191272495-191272881	H1-hESC	embryonic stem cell:	n/a	chr2:191272840-191272851 chr2:191272795-191272809 chr2:191272840-191272849
13	CTCF	chr2:191272840-191272990	SK-N-SH_RA	brain:	n/a	chr2:191272864-191272877 chr2:191272847-191272860
14	POLR2A	chr2:191272713-191272886	ProgFib	skin:	n/a	n/a
15	POLR2A	chr2:191272679-191273199	HCT-116	colon:	n/a	n/a
16	POLR2A	chr2:191272477-191273785	MCF-7	breast:	n/a	n/a
17	YY1	chr2:191272544-191273812	GM12892	blood:	n/a	chr2:191273279-191273290 chr2:191272840-191272851 chr2:191272795-191272809 chr2:191272946-191272957 chr2:191272840-191272849 chr2:191273489-191273503 chr2:191273492-191273506 chr2:191272925-191272934
18	RAD21	chr2:191272764-191272981	HepG2	liver:	n/a	n/a
19	MAX	chr2:191272526-191273632	H1-hESC	embryonic stem cell:	n/a	chr2:191272940-191272950
20	TBP	chr2:191272577-191273011	H1-hESC	embryonic stem cell:	n/a	n/a
21	HDAC2	chr2:191272516-191273919	MCF-7	breast:	n/a	n/a
22	POLR2A	chr2:191272253-191273890	GM12892	blood:	n/a	n/a
23	TAF1	chr2:191272724-191272978	H1-hESC	embryonic stem cell:	n/a	n/a
24	TCF12	chr2:191272580-191273234	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr2:191272048-191274022	H1-neurons	neurons:	n/a	n/a
26	CTCF	chr2:191272743-191272983	HepG2	liver:	n/a	chr2:191272864-191272877 chr2:191272847-191272860 chr2:191272816-191272829
27	POLR2A	chr2:191272270-191273470	GM12892	blood:	n/a	n/a
28	CTCF	chr2:191272820-191272970	GM12867	blood:	n/a	chr2:191272864-191272877 chr2:191272847-191272860
29	CTCF	chr2:191272820-191272970	GM12872	blood:	n/a	chr2:191272864-191272877 chr2:191272847-191272860
30	POLR2A	chr2:191272516-191273844	K562	blood:	n/a	n/a
31	MAX	chr2:191272489-191273041	A549	lung:	n/a	chr2:191272940-191272950
32	POLR2A	chr2:191272526-191273769	GM10847	blood:	n/a	n/a
33	POLR2A	chr2:191272456-191273754	K562	blood:	n/a	n/a
34	POLR2A	chr2:191272366-191273819	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:191272543-191273646	K562	blood:	n/a	n/a
36	YY1	chr2:191272776-191273165	K562	blood:	n/a	chr2:191272840-191272851 chr2:191272795-191272809 chr2:191272946-191272957 chr2:191272840-191272849 chr2:191272925-191272934
37	CTCF	chr2:191272780-191272930	K562	blood:	n/a	chr2:191272864-191272877 chr2:191272847-191272860 chr2:191272816-191272829
38	TCF12	chr2:191272774-191273037	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr2:191272422-191274127	A549	lung:	n/a	chr2:191272940-191272950 chr2:191273660-191273670
40	MAZ	chr2:191272874-191273776	Hela-S3	cervix:	n/a	chr2:191272940-191272950 chr2:191273660-191273670
41	TAF1	chr2:191272878-191273208	K562	blood:	n/a	n/a
42	GABPA	chr2:191272785-191273013	H1-hESC	embryonic stem cell:	n/a	n/a
43	MTA3	chr2:191271884-191274182	GM12878	blood:	n/a	n/a
44	ELF1	chr2:191272400-191273832	GM12878	blood:	n/a	chr2:191273212-191273224 chr2:191272839-191272851 chr2:191273210-191273219 chr2:191272925-191272934 chr2:191272943-191272955 chr2:191273215-191273227 chr2:191272840-191272849 chr2:191273753-191273764 chr2:191272761-191272773 chr2:191273523-191273536
45	HEY1	chr2:191272726-191273095	K562	blood:	n/a	chr2:191272990-191273005 chr2:191272839-191272854 chr2:191272792-191272807
46	POLR2A	chr2:191272339-191273837	GM18951	blood:	n/a	n/a
47	CTCF	chr2:191272820-191272970	GM12865	blood:	n/a	chr2:191272864-191272877 chr2:191272847-191272860
48	SIN3A	chr2:191272069-191274071	H1-hESC	embryonic stem cell:	n/a	chr2:191273595-191273608 chr2:191273560-191273573 chr2:191273592-191273600 chr2:191273201-191273212 chr2:191272886-191272895
49	FOXP2	chr2:191272808-191273386	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr2:191272595-191273777	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:191272262..191274939-chr2:191333629..191335814,2	MCF-7	breast:
2	chr2:191232283..191235106-chr2:191272706..191274515,2	MCF-7	breast:
3	chr2:191217424..191219549-chr2:191271045..191272978,3	K562	blood:
4	chr2:191218042..191219549-chr2:191271331..191272978,2	K562	blood:
5	chr2:191272728..191274553-chr2:191298568..191301564,2	MCF-7	breast:
6	chr2:191271631..191274450-chr2:191332507..191334267,2	MCF-7	breast:
7	chr2:191271812..191274120-chr2:191398223..191400840,2	K562	blood:

Variant related genes	Relation type
MFSD6	TF binding region
ENSG00000233654	Chromatin interaction
ENSG00000189362	Chromatin interaction
ENSG00000151690	Chromatin interaction
ENSG00000151689	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327951	chr2:191272332-191274880	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191271800-191273800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr2:191271800-191274400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:191272000-191273800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:191272000-191274000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:191272000-191274200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:191272200-191273000	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr2:191272200-191273000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:191272200-191273800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr2:191272200-191273800	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr2:191272200-191273800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:191272200-191273800	Active TSS	Brain Substantia Nigra	brain
12	chr2:191272200-191273800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr2:191272200-191274000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:191272200-191274000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr2:191272200-191274200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:191272400-191273000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:191272400-191273000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:191272400-191273000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:191272400-191273000	Flanking Active TSS	Colonic Mucosa	Colon
20	chr2:191272400-191273600	Weak transcription	Fetal Heart	heart
21	chr2:191272400-191273800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:191272400-191273800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:191272400-191273800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr2:191272400-191273800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr2:191272400-191273800	Active TSS	Hela-S3	cervix
26	chr2:191272400-191273800	Active TSS	HSMM	muscle
27	chr2:191272400-191274000	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr2:191272400-191274000	Active TSS	Aorta	Aorta
29	chr2:191272400-191274000	Active TSS	Brain Angular Gyrus	brain
30	chr2:191272400-191274000	Active TSS	Pancreas	Pancrea
31	chr2:191272400-191274000	Active TSS	Thymus	Thymus
32	chr2:191272400-191274200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr2:191272400-191274200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr2:191272400-191274200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr2:191272400-191274200	Active TSS	Muscle Satellite Cultured Cells	--
36	chr2:191272400-191274200	Active TSS	Brain Anterior Caudate	brain
37	chr2:191272400-191274200	Active TSS	Right Ventricle	heart
38	chr2:191272400-191274200	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr2:191272400-191274200	Active TSS	HSMMtube	muscle
40	chr2:191272400-191274400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr2:191272400-191274600	Active TSS	Left Ventricle	heart
42	chr2:191272400-191275000	Active TSS	Right Atrium	heart
43	chr2:191272600-191273400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:191272600-191273400	Weak transcription	Stomach Mucosa	stomach
45	chr2:191272600-191273600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr2:191272600-191273600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:191272600-191273600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:191272600-191273600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:191272600-191273600	Weak transcription	Fetal Brain Male	brain
50	chr2:191272600-191273600	Weak transcription	Fetal Kidney	kidney

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