Variant report

Variant	rs73769044
Chromosome Location	chr5:77945276-77945277
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	CTCF	chr5:77945160-77945310	AG09319	gingival:	n/a	chr5:77945178-77945196
2	CTCF	chr5:77945140-77945290	HAc	cerebellar:	n/a	chr5:77945178-77945196
3	WRNIP1	chr5:77945205-77945423	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:77943092-77946191	HepG2	liver:	n/a	n/a
5	CTCF	chr5:77945140-77945290	AG09319	gingival:	n/a	chr5:77945178-77945196
6	POLR2A	chr5:77943210-77945277	GM18505	blood:	n/a	n/a
7	ZBTB7A	chr5:77944106-77945417	ECC-1	luminal epithelium:	n/a	chr5:77944251-77944262 chr5:77945154-77945161
8	SMARCB1	chr5:77943211-77945306	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr5:77943014-77945454	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:77943987-77945458	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr5:77945168-77945531	SK-N-SH_RA	brain:	n/a	chr5:77945178-77945190 chr5:77945410-77945420
12	ZNF263	chr5:77943041-77945351	HEK293-T-REx	kidney:	n/a	chr5:77944467-77944488
13	CHD1	chr5:77945063-77945402	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAZ	chr5:77943090-77946476	IMR90	lung:	n/a	chr5:77945550-77945560 chr5:77943471-77943481
15	CHD1	chr5:77942547-77945482	IMR90	lung:	n/a	n/a
16	CTCF	chr5:77945180-77945330	HCM	heart:	n/a	n/a
17	CTCF	chr5:77945160-77945310	BJ	skin:	n/a	chr5:77945178-77945196
18	SIN3AK20	chr5:77944739-77945284	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr5:77945260-77945410	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr5:77945180-77945330	HMF	breast:	n/a	n/a
21	MXI1	chr5:77941735-77945542	SK-N-SH	brain:	n/a	chr5:77944256-77944265
22	TBP	chr5:77945276-77945345	HepG2	liver:	n/a	n/a
23	MAX	chr5:77942997-77945293	A549	lung:	n/a	chr5:77943471-77943481
24	POLR2A	chr5:77942112-77946377	IMR90	lung:	n/a	n/a
25	MAZ	chr5:77943211-77945427	GM12878	blood:	n/a	chr5:77943471-77943481
26	CTCF	chr5:77945140-77945290	AG10803	skin:	n/a	chr5:77945178-77945196
27	SIN3A	chr5:77943096-77946065	H1-hESC	embryonic stem cell:	n/a	chr5:77943878-77943891 chr5:77943877-77943887 chr5:77943943-77943954 chr5:77944088-77944096 chr5:77945730-77945741 chr5:77944182-77944195 chr5:77944891-77944904
28	MTA3	chr5:77944666-77945542	GM12878	blood:	n/a	n/a
29	ZBTB7A	chr5:77944113-77945388	ECC-1	luminal epithelium:	n/a	chr5:77944251-77944262 chr5:77945154-77945161
30	ELF1	chr5:77944749-77945335	GM12878	blood:	n/a	chr5:77944790-77944802 chr5:77944902-77944911 chr5:77944897-77944909 chr5:77944883-77944895 chr5:77944991-77945000
31	CTCF	chr5:77945160-77945310	SAEC	small airway:	n/a	chr5:77945178-77945196
32	CTCF	chr5:77945260-77945410	HBMEC	blood vessel:	n/a	n/a

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	chr5:77944860..77948164-chr5:77958771..77961486,4	MCF-7	breast:

Variant related genes	Relation type
HMGB1P21	TF binding region
LHFPL2	TF binding region
ENSG00000145685	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55938458	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59345513	1.00[AMR][1000 genomes]
rs60847824	1.00[AMR][1000 genomes]
rs61240757	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73769040	1.00[AMR][1000 genomes]
rs73769049	1.00[AMR][1000 genomes]
rs73769057	1.00[AMR][1000 genomes]
rs73769058	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
9	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
10	esv1795250	chr5:77944003-77949565	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1846202	chr5:77944003-77949565	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv17068	chr5:77945123-77945900	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv820433	chr5:77945123-77945900	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77942200-77945400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:77942200-77945400	Active TSS	Rectal Smooth Muscle	rectum
3	chr5:77942200-77945600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr5:77942200-77945800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr5:77942600-77945400	Active TSS	Aorta	Aorta
6	chr5:77942600-77945400	Active TSS	Ovary	ovary
7	chr5:77942800-77945400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:77942800-77945400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:77942800-77945400	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr5:77942800-77945400	Active TSS	NHDF-Ad	bronchial
11	chr5:77942800-77945600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:77942800-77945600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr5:77942800-77945800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr5:77943000-77945400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:77943000-77945400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:77943000-77945400	Active TSS	Fetal Intestine Large	intestine
17	chr5:77943000-77945400	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr5:77943000-77945600	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:77943000-77945800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr5:77943000-77945800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:77943000-77946000	Active TSS	Fetal Kidney	kidney
22	chr5:77943200-77945400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:77943200-77945400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:77943200-77945400	Active TSS	Colon Smooth Muscle	Colon
25	chr5:77943200-77945600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:77943200-77945600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:77943200-77945600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr5:77943200-77945600	Active TSS	HepG2	liver
29	chr5:77943200-77945800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr5:77943400-77945400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:77943400-77945400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:77943400-77945400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:77943400-77945400	Active TSS	Placenta	Placenta
34	chr5:77943400-77945400	Active TSS	Pancreas	Pancrea
35	chr5:77943400-77945400	Active TSS	Psoas Muscle	Psoas
36	chr5:77943400-77945600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:77943400-77945800	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr5:77943400-77945800	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr5:77943600-77945400	Active TSS	Brain Anterior Caudate	brain
40	chr5:77943600-77945400	Active TSS	Colonic Mucosa	Colon
41	chr5:77943600-77945400	Active TSS	Duodenum Mucosa	Duodenum
42	chr5:77943600-77945400	Active TSS	Left Ventricle	heart
43	chr5:77943600-77945400	Active TSS	Small Intestine	intestine
44	chr5:77943600-77945600	Active TSS	H1 Cell Line	embryonic stem cell
45	chr5:77943800-77945400	Active TSS	Brain Angular Gyrus	brain
46	chr5:77943800-77945400	Active TSS	Brain Substantia Nigra	brain
47	chr5:77943800-77945400	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr5:77943800-77945600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:77944000-77945400	Active TSS	Primary T cells from cord blood	blood
50	chr5:77944000-77945400	Active TSS	Right Ventricle	heart

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