Variant report

Variant	rs542601533
Chromosome Location	chr2:33683056-33683057
allele	A/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	chr2:33682840-33683339	H1-neurons	neurons:	n/a	n/a
2	ATF1	chr2:33683023-33683136	K562	blood:	n/a	n/a
3	EP300	chr2:33682981-33683171	GM12878	blood:	n/a	chr2:33683104-33683118
4	EBF1	chr2:33682897-33683265	GM12878	blood:	n/a	chr2:33683096-33683107
5	CEBPB	chr2:33682917-33683299	HepG2	liver:	n/a	chr2:33683107-33683118 chr2:33683106-33683119
6	PBX3	chr2:33683003-33683190	GM12878	blood:	n/a	n/a
7	ATF3	chr2:33682914-33683172	K562	blood:	n/a	chr2:33683049-33683062 chr2:33683049-33683062
8	SPI1	chr2:33682630-33683287	HL-60	blood:	n/a	chr2:33682633-33682646
9	FOS	chr2:33682982-33683238	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr2:33682928-33683302	H1-neurons	neurons:	n/a	n/a
11	MEF2A	chr2:33682783-33683295	K562	blood:	n/a	chr2:33683069-33683080 chr2:33683068-33683083 chr2:33683067-33683083 chr2:33683064-33683085 chr2:33682920-33682941 chr2:33683067-33683082 chr2:33683064-33683085 chr2:33682920-33682941 chr2:33683067-33683082 chr2:33683067-33683082 chr2:33682919-33682936 chr2:33683068-33683082 chr2:33682902-33682919 chr2:33683070-33683081 chr2:33683066-33683087 chr2:33683071-33683080 chr2:33683068-33683084 chr2:33683066-33683087
12	CEBPB	chr2:33682936-33683241	A549	lung:	n/a	chr2:33683107-33683118 chr2:33683106-33683119
13	CEBPB	chr2:33682943-33683288	Hela-S3	cervix:	n/a	chr2:33683107-33683118 chr2:33683106-33683119
14	CEBPB	chr2:33682976-33683220	HepG2	liver:	n/a	chr2:33683107-33683118 chr2:33683106-33683119
15	CEBPB	chr2:33682871-33683216	HepG2	liver:	n/a	chr2:33683107-33683118 chr2:33683106-33683119
16	CHD2	chr2:33682951-33683193	GM12878	blood:	n/a	n/a
17	CEBPB	chr2:33683001-33683293	ECC-1	luminal epithelium:	n/a	chr2:33683107-33683118 chr2:33683106-33683119
18	CEBPB	chr2:33682943-33683246	IMR90	lung:	n/a	chr2:33683107-33683118 chr2:33683106-33683119
19	STAT3	chr2:33683046-33683619	MCF10A-Er-Src	breast:	n/a	n/a
20	CEBPB	chr2:33682926-33683315	K562	blood:	n/a	chr2:33683107-33683118 chr2:33683106-33683119
21	FOS	chr2:33683024-33683225	MCF10A-Er-Src	breast:	n/a	n/a
22	MEF2A	chr2:33682866-33683246	K562	blood:	n/a	chr2:33683069-33683080 chr2:33683068-33683083 chr2:33683067-33683083 chr2:33683064-33683085 chr2:33682920-33682941 chr2:33683067-33683082 chr2:33683064-33683085 chr2:33682920-33682941 chr2:33683067-33683082 chr2:33683067-33683082 chr2:33682919-33682936 chr2:33683068-33683082 chr2:33682902-33682919 chr2:33683070-33683081 chr2:33683066-33683087 chr2:33683071-33683080 chr2:33683068-33683084 chr2:33683066-33683087
23	FOS	chr2:33683025-33683154	MCF10A-Er-Src	breast:	n/a	n/a
24	CEBPB	chr2:33682903-33683302	K562	blood:	n/a	chr2:33683107-33683118 chr2:33683106-33683119
25	CEBPB	chr2:33682982-33683216	K562	blood:	n/a	chr2:33683107-33683118 chr2:33683106-33683119
26	CEBPB	chr2:33682923-33683284	H1-hESC	embryonic stem cell:	n/a	chr2:33683107-33683118 chr2:33683106-33683119

Variant related genes	Relation type
RASGRP3	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873792	chr2:33682737-33715742	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33668800-33685200	Weak transcription	HUVEC	blood vessel
2	chr2:33682000-33683400	Enhancers	Left Ventricle	heart
3	chr2:33682400-33683200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:33682400-33683200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:33682400-33685200	Enhancers	Liver	Liver
6	chr2:33682600-33683200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:33682600-33683200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:33682600-33683400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:33682600-33683800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr2:33682600-33683800	Enhancers	Adipose Nuclei	Adipose
11	chr2:33682600-33684000	Enhancers	Stomach Smooth Muscle	stomach
12	chr2:33682800-33683200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:33682800-33683200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:33682800-33683200	Enhancers	Colon Smooth Muscle	Colon
15	chr2:33682800-33683200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr2:33682800-33683200	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:33682800-33683400	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:33682800-33683400	Enhancers	Fetal Intestine Small	intestine
19	chr2:33682800-33683800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:33682800-33684000	Active TSS	Psoas Muscle	Psoas
21	chr2:33682800-33684000	Active TSS	Right Atrium	heart
22	chr2:33682800-33684000	Active TSS	Right Ventricle	heart
23	chr2:33682800-33685000	Enhancers	Fetal Stomach	stomach
24	chr2:33683000-33683200	Enhancers	Primary hematopoietic stem cells	blood
25	chr2:33683000-33683200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr2:33683000-33683400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:33683000-33683800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:33683000-33683800	Active TSS	Fetal Muscle Trunk	muscle
29	chr2:33683000-33683800	Enhancers	Ovary	ovary
30	chr2:33683000-33684000	Active TSS	Fetal Heart	heart
31	chr2:33683000-33684600	Active TSS	Skeletal Muscle Male	skeletal muscle

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