Variant report

Variant	rs576225157
Chromosome Location	chr2:74212885-74212886
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	chr2:74210765-74213232	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:74211225-74213109	NB4	blood:	n/a	n/a
3	TBP	chr2:74212828-74213189	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:74212750-74213050	MCF10A-Er-Src	breast:	n/a	n/a
5	NFIC	chr2:74212660-74213420	GM12878	blood:	n/a	n/a
6	ELF1	chr2:74212521-74213767	GM12878	blood:	n/a	chr2:74213031-74213044 chr2:74213032-74213043
7	STAT1	chr2:74212675-74212946	GM12878	blood:	n/a	chr2:74212841-74212853
8	RELA	chr2:74212520-74213435	GM12891	blood:	n/a	n/a
9	FOXM1	chr2:74212585-74213281	GM12878	blood:	n/a	n/a
10	MAFK	chr2:74212865-74213208	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr2:74210759-74213608	GM19193	blood:	n/a	n/a
12	POLR2A	chr2:74212671-74213623	GM12891	blood:	n/a	n/a
13	SPI1	chr2:74212857-74213295	GM12891	blood:	n/a	chr2:74213082-74213095 chr2:74213082-74213095
14	CHD2	chr2:74212781-74212936	K562	blood:	n/a	n/a
15	GTF2F1	chr2:74212827-74213279	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr2:74211545-74213099	HUVEC	blood vessel:	n/a	n/a
17	RELA	chr2:74212629-74213574	GM19193	blood:	n/a	n/a
18	SPI1	chr2:74212882-74213278	GM12878	blood:	n/a	chr2:74213082-74213095 chr2:74213082-74213095
19	NFATC1	chr2:74212582-74213061	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:74212634-74213197	HCT-116	colon:	n/a	n/a
21	CCNT2	chr2:74211347-74213049	K562	blood:	n/a	chr2:74211893-74211902 chr2:74212839-74212848 chr2:74212028-74212037
22	SIN3AK20	chr2:74212645-74213182	K562	blood:	n/a	n/a
23	TCF12	chr2:74212552-74213365	A549	lung:	n/a	chr2:74212905-74212915
24	POLR2A	chr2:74212611-74213909	HL-60	blood:	n/a	n/a
25	TBP	chr2:74212804-74213127	K562	blood:	n/a	n/a
26	ZNF143	chr2:74212661-74212923	GM12878	blood:	n/a	chr2:74212705-74212715
27	CEBPB	chr2:74212654-74213059	GM12878	blood:	n/a	chr2:74212990-74213003
28	POLR2A	chr2:74211265-74213546	GM18526	blood:	n/a	n/a
29	CHD2	chr2:74211583-74213231	Hela-S3	cervix:	n/a	chr2:74212029-74212039
30	HA-E2F1	chr2:74211482-74213149	Hela-S3	cervix:	n/a	chr2:74212028-74212040 chr2:74212028-74212037
31	MYC	chr2:74210151-74213343	A549	lung:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74211170-74211180 chr2:74213042-74213061 chr2:74212007-74212018 chr2:74212007-74212018
32	MYC	chr2:74212632-74213208	K562	blood:	n/a	chr2:74213042-74213061
33	POLR2A	chr2:74211018-74213746	K562	blood:	n/a	n/a
34	RELA	chr2:74212610-74213283	GM15510	blood:	n/a	n/a
35	STAT5A	chr2:74212653-74213437	GM12878	blood:	n/a	chr2:74213026-74213034 chr2:74212841-74212853
36	POLR2A	chr2:74210822-74213106	H1-hESC	embryonic stem cell:	n/a	n/a
37	YY1	chr2:74212537-74213224	GM12892	blood:	n/a	chr2:74212702-74212716
38	SPI1	chr2:74212810-74213496	GM12878	blood:	n/a	chr2:74213082-74213095 chr2:74213082-74213095
39	MXI1	chr2:74212798-74212983	K562	blood:	n/a	n/a
40	POLR2A	chr2:74212597-74214324	GM12892	blood:	n/a	n/a
41	BCL3	chr2:74212575-74213048	GM12878	blood:	n/a	chr2:74212943-74212956 chr2:74213020-74213029
42	POLR2A	chr2:74212848-74213099	A549	lung:	n/a	n/a
43	POLR2A	chr2:74210840-74213762	GM15510	blood:	n/a	n/a
44	HEY1	chr2:74212450-74213252	HepG2	liver:	n/a	n/a
45	POLR2A	chr2:74212660-74213769	GM12892	blood:	n/a	n/a
46	REST	chr2:74212675-74213171	HL-60	blood:	n/a	n/a
47	RCOR1	chr2:74212770-74213555	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:74212714-74213058	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr2:74212699-74213000	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr2:74212594-74215561	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74055188..74061210-chr2:74210942..74215230,5	K562	blood:
2	chr2:74210581..74214263-chr2:74424560..74427104,3	K562	blood:
3	chr2:74210903..74212994-chr2:74431667..74434283,2	MCF-7	breast:
4	chr2:74210880..74213761-chr2:74373693..74375989,3	K562	blood:
5	chr2:74187365..74198553-chr2:74205167..74212961,17	MCF-7	breast:
6	chr11:133905199..133907855-chr2:74210970..74213610,2	MCF-7	breast:
7	chr2:74211217..74213609-chr2:74345958..74348496,2	MCF-7	breast:
8	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
9	chr2:74103145..74104933-chr2:74212158..74213816,2	K562	blood:
10	chr2:74151695..74161558-chr2:74205273..74215127,19	K562	blood:
11	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
12	chr2:74209442..74213118-chr2:74372270..74377274,6	MCF-7	breast:
13	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
14	chr2:74212585..74213417-chr20:30194830..30195536,2	Hela-S3	cervix:
15	chr11:8709045..8711792-chr2:74211303..74213379,2	MCF-7	breast:
16	chr2:74212004..74214263-chr2:74425033..74427104,2	K562	blood:
17	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
18	chr2:74071679..74074362-chr2:74210863..74213464,2	K562	blood:
19	chr2:74055452..74058450-chr2:74210942..74214913,3	K562	blood:
20	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
21	chr12:122235984..122238947-chr2:74211072..74214040,3	MCF-7	breast:
22	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
23	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:
24	chr2:74055755..74057848-chr2:74210321..74213795,3	MCF-7	breast:
25	chr2:74209017..74213063-chr2:74345530..74349441,7	MCF-7	breast:

Variant related genes	Relation type
DGUOK-AS1	TF binding region
ENSG00000255989	TF binding region
ENSG00000225439	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000271536	Chromatin interaction
ENSG00000254648	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000204241	Chromatin interaction
ENSG00000201876	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv3444943	chr2:74210644-74214042	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv3391332	chr2:74211144-74213742	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	esv3389183	chr2:74211269-74213817	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv3405058	chr2:74211594-74213392	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr2:74210600-74213000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr2:74210800-74213000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:74210800-74213000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:74210800-74213000	Active TSS	Colon Smooth Muscle	Colon
5	chr2:74210800-74213000	Active TSS	Gastric	stomach
6	chr2:74210800-74213000	Active TSS	Rectal Smooth Muscle	rectum
7	chr2:74211000-74213000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:74211000-74213200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr2:74211200-74213200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:74211400-74213000	Active TSS	Aorta	Aorta
11	chr2:74211400-74213000	Active TSS	Duodenum Mucosa	Duodenum
12	chr2:74211400-74213000	Active TSS	Esophagus	oesophagus
13	chr2:74211400-74213000	Active TSS	HSMMtube	muscle
14	chr2:74211400-74213200	Active TSS	Small Intestine	intestine
15	chr2:74211600-74213000	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr2:74211600-74213000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:74211600-74213000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr2:74211600-74213000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:74211600-74213000	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:74211600-74213000	Active TSS	Liver	Liver
21	chr2:74211600-74213000	Active TSS	Brain Germinal Matrix	brain
22	chr2:74211600-74213000	Active TSS	Lung	lung
23	chr2:74211600-74213000	Active TSS	Ovary	ovary
24	chr2:74211600-74213000	Active TSS	Placenta Amnion	Placenta Amnion
25	chr2:74211600-74213000	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr2:74211600-74213000	Active TSS	A549	lung
27	chr2:74211600-74213000	Active TSS	Hela-S3	cervix
28	chr2:74211600-74213000	Active TSS	HMEC	breast
29	chr2:74211600-74213000	Active TSS	HSMM	muscle
30	chr2:74211800-74213000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:74211800-74213000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:74211800-74213000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:74211800-74213000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:74211800-74213000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:74211800-74213000	Active TSS	Monocytes-CD14+_RO01746	blood
36	chr2:74211800-74213000	Active TSS	NHLF	lung
37	chr2:74211800-74213200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:74212400-74213200	Active TSS	Right Atrium	heart
39	chr2:74212600-74213000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
40	chr2:74212600-74213000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr2:74212600-74213000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:74212600-74213000	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr2:74212600-74213000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:74212600-74213000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:74212600-74213000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:74212600-74213000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr2:74212600-74213200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:74212600-74213200	Active TSS	GM12878-XiMat	blood
49	chr2:74212600-74213400	Active TSS	Primary T cells from cord blood	blood
50	chr2:74212600-74213800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell

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