Variant report

Variant	rs544295923
Chromosome Location	chr5:77945022-77945023
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	chr5:77943265-77945243	GM12892	blood:	n/a	n/a
2	POLR2A	chr5:77943215-77945103	GM18951	blood:	n/a	n/a
3	YY1	chr5:77943800-77945090	GM12878	blood:	n/a	chr5:77944900-77944911 chr5:77944242-77944256 chr5:77944902-77944911 chr5:77944896-77944910 chr5:77944184-77944195 chr5:77944066-77944080 chr5:77944241-77944255 chr5:77944902-77944916 chr5:77944289-77944303 chr5:77944279-77944290 chr5:77944262-77944276 chr5:77944211-77944225
4	POLR2A	chr5:77943790-77945102	GM18526	blood:	n/a	n/a
5	REST	chr5:77943713-77945271	H1-neurons	neurons:	n/a	chr5:77944130-77944144 chr5:77943918-77943931 chr5:77944134-77944147 chr5:77944032-77944039 chr5:77943915-77943928 chr5:77943875-77943888
6	POLR2A	chr5:77942955-77945176	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr5:77943696-77945207	GM19193	blood:	n/a	n/a
8	E2F6	chr5:77944840-77945076	K562	blood:	n/a	chr5:77944900-77944910
9	POLR2A	chr5:77944780-77945081	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:77943092-77946191	HepG2	liver:	n/a	n/a
11	HMGN3	chr5:77943764-77945119	K562	blood:	n/a	n/a
12	CHD2	chr5:77944340-77945022	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:77942997-77945191	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:77943680-77945129	MCF-7	breast:	n/a	n/a
15	HEY1	chr5:77944365-77945028	HepG2	liver:	n/a	chr5:77945005-77945020 chr5:77944894-77944909 chr5:77944892-77944907
16	POLR2A	chr5:77943207-77945094	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:77943210-77945277	GM18505	blood:	n/a	n/a
18	SIN3AK20	chr5:77943812-77945242	PANC-1	pancreas:	n/a	n/a
19	ZBTB7A	chr5:77944106-77945417	ECC-1	luminal epithelium:	n/a	chr5:77944251-77944262 chr5:77945154-77945161
20	SMARCB1	chr5:77943211-77945306	Hela-S3	cervix:	n/a	n/a
21	HDAC2	chr5:77944718-77945081	HepG2	liver:	n/a	n/a
22	CTCF	chr5:77944880-77945030	SAEC	small airway:	n/a	n/a
23	MAX	chr5:77943208-77945230	A549	lung:	n/a	chr5:77943471-77943481
24	CTCF	chr5:77944900-77945050	HMEC	breast:	n/a	n/a
25	TAF1	chr5:77943855-77945190	ECC-1	luminal epithelium:	n/a	n/a
26	TCF12	chr5:77943033-77945258	A549	lung:	n/a	chr5:77943881-77943891 chr5:77943947-77943957
27	POLR2A	chr5:77943014-77945454	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr5:77943987-77945458	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:77944731-77945196	GM12878	blood:	n/a	n/a
30	ZNF263	chr5:77943041-77945351	HEK293-T-REx	kidney:	n/a	chr5:77944467-77944488
31	POLR2A	chr5:77943644-77945059	A549	lung:	n/a	n/a
32	MAX	chr5:77944862-77945031	A549	lung:	n/a	n/a
33	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
34	POLR2A	chr5:77943844-77945123	GM12878	blood:	n/a	n/a
35	CCNT2	chr5:77943698-77945144	K562	blood:	n/a	n/a
36	POLR2A	chr5:77943103-77945033	Raji	blood:	n/a	n/a
37	CREB1	chr5:77944031-77945157	A549	lung:	n/a	n/a
38	POLR2A	chr5:77943672-77945242	GM12892	blood:	n/a	n/a
39	MAZ	chr5:77943090-77946476	IMR90	lung:	n/a	chr5:77945550-77945560 chr5:77943471-77943481
40	POLR2A	chr5:77943677-77945075	HUVEC	blood vessel:	n/a	n/a
41	CHD1	chr5:77942547-77945482	IMR90	lung:	n/a	n/a
42	POLR2A	chr5:77943223-77945145	GM19099	blood:	n/a	n/a
43	MAZ	chr5:77943678-77945054	K562	blood:	n/a	n/a
44	MAX	chr5:77943738-77945144	ECC-1	luminal epithelium:	n/a	n/a
45	MAX	chr5:77943081-77945266	HepG2	liver:	n/a	chr5:77943471-77943481
46	UBTF	chr5:77943795-77945181	K562	blood:	n/a	n/a
47	SIN3AK20	chr5:77944739-77945284	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr5:77943625-77945215	A549	lung:	n/a	n/a
49	POLR2A	chr5:77943671-77945131	GM12878	blood:	n/a	n/a
50	TCF12	chr5:77943656-77945158	ECC-1	luminal epithelium:	n/a	chr5:77943881-77943891 chr5:77943947-77943957

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: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv12753	chr5:77943975-77945033	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	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
12	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

No data

Chromatin state (count:116 , 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	chr5:77942200-77945200	Active TSS	HSMMtube	muscle
3	chr5:77942200-77945400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:77942200-77945400	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:77942200-77945600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr5:77942200-77945800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:77942600-77945200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:77942600-77945200	Active TSS	Fetal Stomach	stomach
9	chr5:77942600-77945400	Active TSS	Aorta	Aorta
10	chr5:77942600-77945400	Active TSS	Ovary	ovary
11	chr5:77942800-77945200	Active TSS	HSMM	muscle
12	chr5:77942800-77945200	Active TSS	NHLF	lung
13	chr5:77942800-77945400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:77942800-77945400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:77942800-77945400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:77942800-77945400	Active TSS	NHDF-Ad	bronchial
17	chr5:77942800-77945600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:77942800-77945600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr5:77942800-77945800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr5:77943000-77945200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:77943000-77945200	Active TSS	A549	lung
22	chr5:77943000-77945400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:77943000-77945400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:77943000-77945400	Active TSS	Fetal Intestine Large	intestine
25	chr5:77943000-77945400	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr5:77943000-77945600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr5:77943000-77945800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr5:77943000-77945800	Active TSS	H9 Cell Line	embryonic stem cell
29	chr5:77943000-77946000	Active TSS	Fetal Kidney	kidney
30	chr5:77943200-77945200	Active TSS	Lung	lung
31	chr5:77943200-77945400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:77943200-77945400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:77943200-77945400	Active TSS	Colon Smooth Muscle	Colon
34	chr5:77943200-77945600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:77943200-77945600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:77943200-77945600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr5:77943200-77945600	Active TSS	HepG2	liver
38	chr5:77943200-77945800	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr5:77943400-77945200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:77943400-77945200	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr5:77943400-77945200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr5:77943400-77945200	Active TSS	Gastric	stomach
43	chr5:77943400-77945200	Active TSS	Placenta Amnion	Placenta Amnion
44	chr5:77943400-77945400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:77943400-77945400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:77943400-77945400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:77943400-77945400	Active TSS	Placenta	Placenta
48	chr5:77943400-77945400	Active TSS	Pancreas	Pancrea
49	chr5:77943400-77945400	Active TSS	Psoas Muscle	Psoas
50	chr5:77943400-77945600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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