Variant report

Variant	rs530293144
Chromosome Location	chr2:74213073-74213074
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	POLR2A	chr2:74210765-74213232	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:74212934-74213083	ProgFib	skin:	n/a	n/a
3	POLR2A	chr2:74211225-74213109	NB4	blood:	n/a	n/a
4	TBP	chr2:74212828-74213189	Hela-S3	cervix:	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	EP300	chr2:74212911-74213143	K562	blood:	n/a	n/a
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	POLR2A	chr2:74212888-74213890	GM12891	blood:	n/a	n/a
14	SPI1	chr2:74212857-74213295	GM12891	blood:	n/a	chr2:74213082-74213095 chr2:74213082-74213095
15	MAFK	chr2:74213007-74213318	HepG2	liver:	n/a	n/a
16	USF2	chr2:74212928-74213105	Hela-S3	cervix:	n/a	n/a
17	SPI1	chr2:74212905-74213235	K562	blood:	n/a	chr2:74213082-74213095 chr2:74213082-74213095
18	GTF2F1	chr2:74212827-74213279	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr2:74211545-74213099	HUVEC	blood vessel:	n/a	n/a
20	RELA	chr2:74212629-74213574	GM19193	blood:	n/a	n/a
21	SPI1	chr2:74212882-74213278	GM12878	blood:	n/a	chr2:74213082-74213095 chr2:74213082-74213095
22	TBL1XR1	chr2:74212945-74213098	K562	blood:	n/a	n/a
23	POLR2A	chr2:74212634-74213197	HCT-116	colon:	n/a	n/a
24	SIN3AK20	chr2:74212645-74213182	K562	blood:	n/a	n/a
25	TCF12	chr2:74212552-74213365	A549	lung:	n/a	chr2:74212905-74212915
26	POLR2A	chr2:74212611-74213909	HL-60	blood:	n/a	n/a
27	TBP	chr2:74212804-74213127	K562	blood:	n/a	n/a
28	SPI1	chr2:74212901-74213339	HL-60	blood:	n/a	chr2:74213082-74213095 chr2:74213082-74213095
29	CEBPB	chr2:74212902-74213096	K562	blood:	n/a	chr2:74212990-74213003
30	POLR2A	chr2:74211265-74213546	GM18526	blood:	n/a	n/a
31	CHD2	chr2:74211583-74213231	Hela-S3	cervix:	n/a	chr2:74212029-74212039
32	HA-E2F1	chr2:74211482-74213149	Hela-S3	cervix:	n/a	chr2:74212028-74212040 chr2:74212028-74212037
33	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
34	MYC	chr2:74212632-74213208	K562	blood:	n/a	chr2:74213042-74213061
35	POLR2A	chr2:74211018-74213746	K562	blood:	n/a	n/a
36	IRF1	chr2:74212886-74213160	K562	blood:	n/a	chr2:74213015-74213029 chr2:74213021-74213030
37	RELA	chr2:74212610-74213283	GM15510	blood:	n/a	n/a
38	STAT5A	chr2:74212653-74213437	GM12878	blood:	n/a	chr2:74213026-74213034 chr2:74212841-74212853
39	POLR2A	chr2:74210822-74213106	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr2:74212537-74213224	GM12892	blood:	n/a	chr2:74212702-74212716
41	SPI1	chr2:74212810-74213496	GM12878	blood:	n/a	chr2:74213082-74213095 chr2:74213082-74213095
42	POLR2A	chr2:74212597-74214324	GM12892	blood:	n/a	n/a
43	POLR2A	chr2:74212848-74213099	A549	lung:	n/a	n/a
44	POLR2A	chr2:74210840-74213762	GM15510	blood:	n/a	n/a
45	HEY1	chr2:74212450-74213252	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:74212660-74213769	GM12892	blood:	n/a	n/a
47	REST	chr2:74212675-74213171	HL-60	blood:	n/a	n/a
48	RCOR1	chr2:74212770-74213555	GM12878	blood:	n/a	n/a
49	STAT3	chr2:74212889-74213147	MCF10A-Er-Src	breast:	n/a	chr2:74213026-74213034
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	chr2:74210880..74213761-chr2:74373693..74375989,3	K562	blood:
4	chr11:133905199..133907855-chr2:74210970..74213610,2	MCF-7	breast:
5	chr2:74211217..74213609-chr2:74345958..74348496,2	MCF-7	breast:
6	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
7	chr2:74103145..74104933-chr2:74212158..74213816,2	K562	blood:
8	chr2:74151695..74161558-chr2:74205273..74215127,19	K562	blood:
9	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
10	chr2:74209442..74213118-chr2:74372270..74377274,6	MCF-7	breast:
11	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
12	chr2:74212585..74213417-chr20:30194830..30195536,2	Hela-S3	cervix:
13	chr11:8709045..8711792-chr2:74211303..74213379,2	MCF-7	breast:
14	chr2:74212004..74214263-chr2:74425033..74427104,2	K562	blood:
15	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
16	chr2:74071679..74074362-chr2:74210863..74213464,2	K562	blood:
17	chr2:74055452..74058450-chr2:74210942..74214913,3	K562	blood:
18	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
19	chr12:122235984..122238947-chr2:74211072..74214040,3	MCF-7	breast:
20	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
21	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:
22	chr2:74055755..74057848-chr2:74210321..74213795,3	MCF-7	breast:

Variant related genes	Relation type
DGUOK-AS1	TF binding region
ENSG00000255989	TF binding region
ENSG00000065911	Chromatin interaction
ENSG00000204241	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000271536	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000254648	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000114956	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	chr2:74211000-74213200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:74211200-74213200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:74211400-74213200	Active TSS	Small Intestine	intestine
4	chr2:74211800-74213200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:74212400-74213200	Active TSS	Right Atrium	heart
6	chr2:74212600-74213200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:74212600-74213200	Active TSS	GM12878-XiMat	blood
8	chr2:74212600-74213400	Active TSS	Primary T cells from cord blood	blood
9	chr2:74212600-74213800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:74212600-74214000	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr2:74212600-74214400	Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr2:74212800-74213200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:74212800-74213200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:74212800-74213200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:74212800-74213200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:74212800-74213200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:74212800-74213200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:74212800-74213200	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr2:74212800-74213200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr2:74212800-74213200	Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr2:74212800-74213200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:74212800-74213200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:74212800-74213200	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr2:74212800-74213200	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr2:74212800-74213200	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr2:74212800-74213200	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr2:74212800-74213200	Flanking Active TSS	Fetal Intestine Small	intestine
28	chr2:74212800-74213200	Flanking Active TSS	Fetal Muscle Trunk	muscle
29	chr2:74212800-74213200	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr2:74212800-74213200	Flanking Active TSS	Fetal Stomach	stomach
31	chr2:74212800-74213200	Flanking Active TSS	Pancreas	Pancrea
32	chr2:74212800-74213200	Flanking Active TSS	Right Ventricle	heart
33	chr2:74212800-74213200	Enhancers	Stomach Mucosa	stomach
34	chr2:74212800-74213200	Flanking Active TSS	Dnd41	blood
35	chr2:74212800-74213200	Flanking Active TSS	NH-A	brain
36	chr2:74212800-74213200	Active TSS	NHDF-Ad	bronchial
37	chr2:74212800-74213200	Flanking Active TSS	NHEK	skin
38	chr2:74212800-74213200	Flanking Active TSS	Osteobl	bone
39	chr2:74212800-74213400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr2:74212800-74213400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr2:74212800-74213400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:74212800-74213400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:74212800-74213400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr2:74212800-74213400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:74212800-74213400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:74212800-74213400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr2:74212800-74213400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr2:74212800-74213400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr2:74212800-74213400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr2:74212800-74213400	Flanking Active TSS	Fetal Brain Female	brain

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