Variant report

Variant	rs188781597
Chromosome Location	chr2:37550956-37550957
allele	G/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	HA-E2F1	chr2:37550868-37552809	MCF-7	breast:	n/a	chr2:37551670-37551680 chr2:37551567-37551576 chr2:37551721-37551731 chr2:37552050-37552059 chr2:37551762-37551772 chr2:37551765-37551775 chr2:37551759-37551769 chr2:37551667-37551677 chr2:37551610-37551622
2	MBD4	chr2:37550790-37551459	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:37550784-37551293	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr2:37548191-37553289	SK-N-SH	brain:	n/a	chr2:37553241-37553251 chr2:37551667-37551676 chr2:37551721-37551730 chr2:37552888-37552902 chr2:37552886-37552900 chr2:37548375-37548385 chr2:37552046-37552062 chr2:37551718-37551727 chr2:37551670-37551686 chr2:37551556-37551565 chr2:37549996-37550004 chr2:37551763-37551772 chr2:37552050-37552059 chr2:37552050-37552066 chr2:37551559-37551568 chr2:37551670-37551679 chr2:37551760-37551769 chr2:37551766-37551775
5	POLR2A	chr2:37550828-37551294	GM12891	blood:	n/a	n/a
6	MXI1	chr2:37550863-37552718	IMR90	lung:	n/a	n/a
7	POLR2A	chr2:37550735-37552767	GM12892	blood:	n/a	n/a
8	POLR2A	chr2:37550759-37551567	GM12892	blood:	n/a	n/a
9	POLR2A	chr2:37550942-37552535	HepG2	liver:	n/a	n/a
10	MYC	chr2:37550922-37552665	NB4	blood:	n/a	chr2:37552229-37552236
11	GTF2F1	chr2:37550891-37551458	Hela-S3	cervix:	n/a	n/a
12	MYBL2	chr2:37550871-37551550	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:37550908-37552676	Gliobla	brain:	n/a	n/a
14	HCFC1	chr2:37550716-37554093	Hela-S3	cervix:	n/a	n/a
15	PBX3	chr2:37550737-37551286	SK-N-SH	brain:	n/a	chr2:37551029-37551040
16	POLR2A	chr2:37550950-37551139	H1-hESC	embryonic stem cell:	n/a	n/a
17	PBX3	chr2:37550664-37551333	SK-N-SH	brain:	n/a	chr2:37551029-37551040
18	MAX	chr2:37550758-37551241	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr2:37547850-37553154	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr2:37550729-37552179	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr2:37550836-37552781	HepG2	liver:	n/a	chr2:37552229-37552236
22	MAZ	chr2:37550923-37552675	GM12878	blood:	n/a	chr2:37552229-37552236
23	POLR2A	chr2:37550732-37551670	GM12892	blood:	n/a	n/a
24	POLR2A	chr2:37550800-37551222	GM12891	blood:	n/a	n/a
25	E2F6	chr2:37550848-37552768	A549	lung:	n/a	chr2:37551670-37551680 chr2:37551567-37551576 chr2:37551721-37551731 chr2:37552050-37552059 chr2:37551762-37551772 chr2:37551765-37551775 chr2:37551759-37551769 chr2:37551606-37551621 chr2:37551667-37551677 chr2:37551610-37551622
26	POLR2A	chr2:37550919-37551263	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr2:37550729-37551313	Hela-S3	cervix:	n/a	n/a
28	MAZ	chr2:37550907-37552832	K562	blood:	n/a	chr2:37552229-37552236
29	EP300	chr2:37550830-37551197	SK-N-SH_RA	brain:	n/a	n/a
30	WRNIP1	chr2:37550955-37551371	GM12878	blood:	n/a	n/a
31	MAZ	chr2:37550446-37552844	IMR90	lung:	n/a	chr2:37552229-37552236
32	SMARCB1	chr2:37550924-37552784	Hela-S3	cervix:	n/a	chr2:37552032-37552041
33	POLR2A	chr2:37550931-37552592	Hela-S3	cervix:	n/a	n/a
34	SIN3A	chr2:37550628-37552914	H1-hESC	embryonic stem cell:	n/a	chr2:37551634-37551645 chr2:37552028-37552037 chr2:37551573-37551584 chr2:37552043-37552056
35	SIN3AK20	chr2:37550559-37551582	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr2:37550845-37551325	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr2:37550894-37551600	Hela-S3	cervix:	n/a	n/a
38	MAX	chr2:37550939-37552894	HepG2	liver:	n/a	chr2:37552229-37552236
39	POLR2A	chr2:37550944-37551287	K562	blood:	n/a	n/a
40	STAT5A	chr2:37550954-37551591	GM12878	blood:	n/a	n/a
41	SMC3	chr2:37550874-37551389	Hela-S3	cervix:	n/a	n/a
42	MAX	chr2:37550943-37552596	NB4	blood:	n/a	chr2:37552229-37552236
43	MYC	chr2:37550656-37551277	K562	blood:	n/a	n/a
44	MAX	chr2:37550819-37552743	A549	lung:	n/a	chr2:37552229-37552236
45	POLR2A	chr2:37550854-37552711	Hela-S3	cervix:	n/a	n/a
46	MAX	chr2:37550858-37551208	K562	blood:	n/a	n/a
47	POLR2A	chr2:37550910-37551223	H1-hESC	embryonic stem cell:	n/a	n/a
48	MTA3	chr2:37550850-37551486	GM12878	blood:	n/a	n/a
49	BCLAF1	chr2:37550883-37551637	GM12878	blood:	n/a	chr2:37551555-37551564 chr2:37551550-37551563
50	CEBPB	chr2:37550910-37551400	Hela-S3	cervix:	n/a	chr2:37551043-37551055

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37453426..37455818-chr2:37549364..37551378,2	K562	blood:

Variant related genes	Relation type
ENSG00000232028	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	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	esv3360299	chr2:37550473-37553321	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37546000-37551000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:37548400-37551000	Flanking Active TSS	Dnd41	blood
3	chr2:37548800-37554000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:37549000-37551000	Weak transcription	Spleen	Spleen
5	chr2:37549400-37552200	Active TSS	GM12878-XiMat	blood
6	chr2:37549400-37554000	Active TSS	Right Atrium	heart
7	chr2:37549600-37551000	Flanking Active TSS	HUVEC	blood vessel
8	chr2:37549600-37551200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr2:37549600-37551200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr2:37549600-37551400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:37549600-37552000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:37549600-37552200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:37549600-37552600	Active TSS	Colon Smooth Muscle	Colon
14	chr2:37549800-37551000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:37549800-37552000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:37549800-37552200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:37549800-37552600	Active TSS	Brain Cingulate Gyrus	brain
18	chr2:37549800-37552600	Active TSS	NHDF-Ad	bronchial
19	chr2:37549800-37552800	Active TSS	Aorta	Aorta
20	chr2:37549800-37552800	Active TSS	NH-A	brain
21	chr2:37549800-37553800	Active TSS	Duodenum Mucosa	Duodenum
22	chr2:37549800-37553800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr2:37549800-37554200	Active TSS	Stomach Smooth Muscle	stomach
24	chr2:37549800-37554200	Active TSS	NHLF	lung
25	chr2:37550000-37551000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr2:37550000-37551200	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr2:37550000-37551200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr2:37550000-37552600	Active TSS	NHEK	skin
29	chr2:37550000-37552800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:37550000-37552800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:37550000-37554400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:37550200-37551200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:37550200-37551200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr2:37550200-37551400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:37550200-37552200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr2:37550200-37552600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:37550200-37553800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:37550200-37553800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:37550400-37551000	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr2:37550400-37551000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr2:37550400-37551000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:37550400-37551000	Flanking Active TSS	Liver	Liver
43	chr2:37550400-37551000	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr2:37550400-37551000	Active TSS	Fetal Muscle Trunk	muscle
45	chr2:37550400-37551000	Flanking Active TSS	A549	lung
46	chr2:37550400-37551200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr2:37550400-37551200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr2:37550400-37551200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:37550400-37551200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:37550400-37551200	Flanking Active TSS	Fetal Heart	heart

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