Variant report

Variant	rs544254129
Chromosome Location	chr2:205409838-205409839
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	chr2:205409696-205410519	HUVEC	blood vessel:	n/a	n/a
2	NR2F2	chr2:205409361-205410782	MCF-7	breast:	n/a	chr2:205409639-205409654
3	MAX	chr2:205409548-205411099	H1-hESC	embryonic stem cell:	n/a	n/a
4	RCOR1	chr2:205409638-205410339	Hela-S3	cervix:	n/a	n/a
5	E2F6	chr2:205409443-205411309	K562	blood:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
6	POLR2A	chr2:205409750-205410254	Hela-S3	cervix:	n/a	n/a
7	E2F6	chr2:205409740-205410362	A549	lung:	n/a	chr2:205410300-205410310 chr2:205410216-205410226 chr2:205410041-205410052
8	TFAP2C	chr2:205409334-205410758	Hela-S3	cervix:	n/a	chr2:205410583-205410598 chr2:205409789-205409804
9	POLR2A	chr2:205409783-205410618	H1-hESC	embryonic stem cell:	n/a	n/a
10	UBTF	chr2:205409609-205410664	K562	blood:	n/a	n/a
11	MAX	chr2:205409547-205410438	HCT-116	colon:	n/a	n/a
12	CEBPB	chr2:205409443-205410423	Hela-S3	cervix:	n/a	n/a
13	MAX	chr2:205409598-205410363	K562	blood:	n/a	n/a
14	POLR2A	chr2:205409614-205411156	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr2:205409496-205410390	MCF-7	breast:	n/a	n/a
16	MAX	chr2:205409428-205411143	MCF-7	breast:	n/a	n/a
17	USF1	chr2:205409838-205410382	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr2:205409580-205410938	K562	blood:	n/a	n/a
19	POLR2A	chr2:205409805-205410030	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr2:205409807-205410561	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr2:205409657-205410591	ECC-1	luminal epithelium:	n/a	n/a
22	CTBP2	chr2:205409740-205411060	H1-hESC	embryonic stem cell:	n/a	n/a
23	TBP	chr2:205409778-205410240	K562	blood:	n/a	n/a
24	ZNF217	chr2:205409477-205410028	MCF-7	breast:	n/a	n/a
25	POLR2A	chr2:205409741-205410582	Gliobla	brain:	n/a	n/a
26	MAZ	chr2:205409831-205410129	HepG2	liver:	n/a	n/a
27	YY1	chr2:205409833-205410390	ECC-1	luminal epithelium:	n/a	chr2:205410207-205410221
28	KAP1	chr2:205409352-205410187	HEK293	kidney:	n/a	n/a
29	MAX	chr2:205409646-205410447	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr2:205409778-205410407	A549	lung:	n/a	n/a
31	REST	chr2:205409823-205410125	A549	lung:	n/a	n/a
32	CHD2	chr2:205409564-205410305	Hela-S3	cervix:	n/a	n/a
33	MYC	chr2:205409803-205410982	MCF10A-Er-Src	breast:	n/a	n/a
34	HA-E2F1	chr2:205409291-205411382	MCF-7	breast:	n/a	chr2:205410532-205410544 chr2:205410300-205410310 chr2:205410216-205410226
35	TCF12	chr2:205409488-205410442	A549	lung:	n/a	chr2:205409606-205409615
36	BACH1	chr2:205409576-205409993	H1-hESC	embryonic stem cell:	n/a	n/a
37	EP300	chr2:205409670-205410607	ECC-1	luminal epithelium:	n/a	chr2:205410216-205410225
38	ZNF263	chr2:205409673-205411588	HEK293-T-REx	kidney:	n/a	n/a
39	MAX	chr2:205409470-205411022	H1-hESC	embryonic stem cell:	n/a	n/a
40	TCF12	chr2:205409530-205411076	ECC-1	luminal epithelium:	n/a	chr2:205409606-205409615
41	MAZ	chr2:205409773-205410501	K562	blood:	n/a	n/a
42	SIN3AK20	chr2:205409249-205410285	MCF-7	breast:	n/a	n/a
43	RCOR1	chr2:205409718-205410120	K562	blood:	n/a	n/a
44	POLR2A	chr2:205409702-205411060	MCF-7	breast:	n/a	n/a
45	POLR2A	chr2:205409629-205410501	IMR90	lung:	n/a	n/a
46	TAF1	chr2:205409652-205410705	ECC-1	luminal epithelium:	n/a	n/a
47	TFAP2A	chr2:205409247-205410554	Hela-S3	cervix:	n/a	chr2:205409792-205409804 chr2:205410104-205410116 chr2:205409792-205409804 chr2:205410304-205410319 chr2:205409789-205409804 chr2:205409792-205409804 chr2:205409792-205409804
48	POLR2A	chr2:205409818-205410495	A549	lung:	n/a	n/a
49	NR2F2	chr2:205409289-205410008	MCF-7	breast:	n/a	chr2:205409639-205409654
50	GTF2F1	chr2:205409757-205410271	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205406485..205408306-chr2:205408736..205410499,2	K562	blood:

Variant related genes	Relation type
PARD3B	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3422948	chr2:205409232-205412080	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 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	chr2:205409200-205410000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
2	chr2:205409200-205410000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr2:205409200-205410000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr2:205409200-205410000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr2:205409200-205410000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr2:205409200-205410000	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr2:205409200-205410800	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr2:205409200-205411000	Active TSS	Brain Substantia Nigra	brain
9	chr2:205409200-205411400	Active TSS	Colonic Mucosa	Colon
10	chr2:205409400-205410000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:205409400-205410000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:205409400-205410000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:205409400-205410000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
14	chr2:205409400-205410000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:205409400-205410000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr2:205409400-205410000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
17	chr2:205409400-205410000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:205409400-205410000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr2:205409400-205410000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:205409400-205410000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:205409400-205410000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:205409400-205410000	Flanking Active TSS	Liver	Liver
23	chr2:205409400-205410000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr2:205409400-205410000	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr2:205409400-205410000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr2:205409400-205410000	Flanking Active TSS	Hela-S3	cervix
27	chr2:205409400-205410000	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr2:205409400-205410000	Flanking Active TSS	HSMM	muscle
29	chr2:205409400-205410000	Flanking Active TSS	HUVEC	blood vessel
30	chr2:205409400-205410000	Flanking Active TSS	NHEK	skin
31	chr2:205409400-205410200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:205409400-205410200	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr2:205409400-205410800	Active TSS	Brain Cingulate Gyrus	brain
34	chr2:205409400-205410800	Active TSS	NH-A	brain
35	chr2:205409400-205411000	Active TSS	Brain Hippocampus Middle	brain
36	chr2:205409400-205411000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr2:205409400-205411200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr2:205409400-205411200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr2:205409400-205411800	Active TSS	Ovary	ovary
40	chr2:205409400-205412200	Active TSS	Right Atrium	heart
41	chr2:205409600-205410000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
42	chr2:205409600-205410000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:205409600-205410000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
44	chr2:205409600-205410000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr2:205409600-205410000	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr2:205409600-205410000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
47	chr2:205409600-205410000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr2:205409600-205410000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:205409600-205410000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:205409600-205410000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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