Variant report

Variant	rs551808167
Chromosome Location	chr5:77943683-77943684
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	MAX	chr5:77943155-77944694	H1-hESC	embryonic stem cell:	n/a	chr5:77943471-77943481
2	POLR2A	chr5:77943265-77945243	GM12892	blood:	n/a	n/a
3	POLR2A	chr5:77943215-77945103	GM18951	blood:	n/a	n/a
4	TBP	chr5:77943208-77943771	HepG2	liver:	n/a	n/a
5	CHD1	chr5:77943445-77943775	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr5:77943183-77944315	GM12878	blood:	n/a	chr5:77944064-77944077 chr5:77943877-77943886 chr5:77944281-77944294 chr5:77944068-77944081 chr5:77944068-77944081
7	SIN3A	chr5:77943669-77943964	GM12878	blood:	n/a	chr5:77943878-77943891 chr5:77943877-77943887 chr5:77943943-77943954
8	BCLAF1	chr5:77943246-77944248	GM12878	blood:	n/a	chr5:77944064-77944077 chr5:77943877-77943886 chr5:77944068-77944081 chr5:77944068-77944081
9	SIN3AK20	chr5:77943387-77943827	A549	lung:	n/a	n/a
10	WRNIP1	chr5:77943202-77943745	GM12878	blood:	n/a	n/a
11	MAX	chr5:77943370-77944702	K562	blood:	n/a	chr5:77943471-77943481
12	MYC	chr5:77943047-77943712	MCF10A-Er-Src	breast:	n/a	chr5:77943471-77943481
13	MXI1	chr5:77943315-77945019	HepG2	liver:	n/a	chr5:77944256-77944265
14	POLR2A	chr5:77942955-77945176	MCF10A-Er-Src	breast:	n/a	n/a
15	EBF1	chr5:77943621-77944114	GM12878	blood:	n/a	chr5:77943908-77943917 chr5:77943906-77943917
16	POLR2A	chr5:77943092-77946191	HepG2	liver:	n/a	n/a
17	TEAD4	chr5:77943592-77943922	K562	blood:	n/a	n/a
18	MYC	chr5:77943466-77943698	H1-hESC	embryonic stem cell:	n/a	chr5:77943471-77943481
19	STAT3	chr5:77943578-77943746	MCF10A-Er-Src	breast:	n/a	n/a
20	EGR1	chr5:77943654-77943928	K562	blood:	n/a	n/a
21	POLR2A	chr5:77942997-77945191	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:77943680-77945129	MCF-7	breast:	n/a	n/a
23	RAD21	chr5:77943662-77944854	SK-N-SH_RA	brain:	n/a	chr5:77944799-77944811
24	POLR2A	chr5:77943225-77944771	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr5:77943207-77945094	HepG2	liver:	n/a	n/a
26	SIN3AK20	chr5:77943283-77943817	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr5:77943210-77945277	GM18505	blood:	n/a	n/a
28	JUND	chr5:77943599-77944640	A549	lung:	n/a	n/a
29	PML	chr5:77943093-77944054	GM12878	blood:	n/a	n/a
30	RFX5	chr5:77943489-77944292	Hela-S3	cervix:	n/a	n/a
31	STAT1	chr5:77943248-77943803	GM12878	blood:	n/a	chr5:77943304-77943312
32	MAX	chr5:77943122-77944759	HepG2	liver:	n/a	chr5:77943471-77943481
33	POLR2A	chr5:77943060-77944990	MCF10A-Er-Src	breast:	n/a	n/a
34	RAD21	chr5:77943203-77944242	Hela-S3	cervix:	n/a	n/a
35	SMARCB1	chr5:77943211-77945306	Hela-S3	cervix:	n/a	n/a
36	EP300	chr5:77943296-77944158	GM12878	blood:	n/a	chr5:77944072-77944081 chr5:77944064-77944080 chr5:77944066-77944075 chr5:77943941-77943957 chr5:77944077-77944093 chr5:77943649-77943663 chr5:77944066-77944082
37	SIN3AK20	chr5:77943127-77943970	A549	lung:	n/a	n/a
38	HA-E2F1	chr5:77943443-77944678	MCF-7	breast:	n/a	chr5:77944163-77944178
39	MAX	chr5:77943208-77945230	A549	lung:	n/a	chr5:77943471-77943481
40	RCOR1	chr5:77943650-77943955	K562	blood:	n/a	n/a
41	RUNX3	chr5:77943205-77944602	GM12878	blood:	n/a	n/a
42	TCF12	chr5:77943033-77945258	A549	lung:	n/a	chr5:77943881-77943891 chr5:77943947-77943957
43	CTCF	chr5:77943680-77943830	HFF	foreskin:	n/a	n/a
44	GTF2F1	chr5:77943380-77944183	Hela-S3	cervix:	n/a	n/a
45	CHD1	chr5:77943257-77944553	GM12878	blood:	n/a	n/a
46	POLR2A	chr5:77943014-77945454	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZNF263	chr5:77943041-77945351	HEK293-T-REx	kidney:	n/a	chr5:77944467-77944488
48	POLR2A	chr5:77943644-77945059	A549	lung:	n/a	n/a
49	EP300	chr5:77943658-77945161	SK-N-SH	brain:	n/a	chr5:77945054-77945063 chr5:77944072-77944081 chr5:77944064-77944080 chr5:77944274-77944290 chr5:77944066-77944075 chr5:77944901-77944910 chr5:77945041-77945057 chr5:77944891-77944907 chr5:77943941-77943957 chr5:77944077-77944093 chr5:77944066-77944082
50	MAX	chr5:77943000-77943765	SK-N-SH	brain:	n/a	chr5:77943471-77943481

No.	Distal block	Cell Line	Cell type
1	chr5:77932938..77939935-chr5:77942023..77946135,10	MCF-7	breast:
2	chr5:77936618..77938171-chr5:77943031..77945738,2	K562	blood:
3	chr5:77943376..77944358-chr9:107509480..107510026,2	Hela-S3	cervix:
4	chr5:77940516..77942352-chr5:77943015..77944536,2	MCF-7	breast:

Variant related genes	Relation type
HMGB1P21	TF binding region
ENSG00000145685	Chromatin interaction
ENSG00000248909	Chromatin interaction
ENSG00000136783	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522738	chr5:77434730-78063683	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3522739	chr5:77434730-78063683	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv949530	chr5:77830403-78477017	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830356	chr5:77847022-78011999	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1021768	chr5:77881915-78465489	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv2762527	chr5:77921199-78548196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv1792242	chr5:77927033-77966625	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1841124	chr5:77937453-77944988	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv528833	chr5:77937453-78016860	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv598701	chr5:77940790-77944988	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv3439355	chr5:77943421-77945969	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr5:77941600-77945200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:77942200-77945000	Active TSS	GM12878-XiMat	blood
3	chr5:77942200-77945200	Active TSS	HSMMtube	muscle
4	chr5:77942200-77945400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:77942200-77945400	Active TSS	Rectal Smooth Muscle	rectum
6	chr5:77942200-77945600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:77942200-77945800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:77942400-77943800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:77942600-77943800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:77942600-77943800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:77942600-77943800	Flanking Active TSS	Fetal Brain Female	brain
12	chr5:77942600-77943800	Flanking Active TSS	Osteobl	bone
13	chr5:77942600-77944000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
14	chr5:77942600-77944000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr5:77942600-77945200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:77942600-77945200	Active TSS	Fetal Stomach	stomach
17	chr5:77942600-77945400	Active TSS	Aorta	Aorta
18	chr5:77942600-77945400	Active TSS	Ovary	ovary
19	chr5:77942800-77943800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:77942800-77944000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr5:77942800-77945000	Active TSS	HMEC	breast
22	chr5:77942800-77945200	Active TSS	HSMM	muscle
23	chr5:77942800-77945200	Active TSS	NHLF	lung
24	chr5:77942800-77945400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:77942800-77945400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:77942800-77945400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr5:77942800-77945400	Active TSS	NHDF-Ad	bronchial
28	chr5:77942800-77945600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:77942800-77945600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:77942800-77945800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr5:77943000-77943800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
32	chr5:77943000-77943800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
33	chr5:77943000-77943800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:77943000-77943800	Active TSS	Right Atrium	heart
35	chr5:77943000-77943800	Flanking Active TSS	Hela-S3	cervix
36	chr5:77943000-77944000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr5:77943000-77944000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr5:77943000-77944200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
39	chr5:77943000-77944200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
40	chr5:77943000-77944200	Active TSS	Stomach Mucosa	stomach
41	chr5:77943000-77944400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr5:77943000-77944400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:77943000-77945000	Active TSS	Muscle Satellite Cultured Cells	--
44	chr5:77943000-77945000	Active TSS	Fetal Intestine Small	intestine
45	chr5:77943000-77945200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:77943000-77945200	Active TSS	A549	lung
47	chr5:77943000-77945400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:77943000-77945400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr5:77943000-77945400	Active TSS	Fetal Intestine Large	intestine
50	chr5:77943000-77945400	Active TSS	Sigmoid Colon	Sigmoid Colon

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