Variant report

Variant	rs192406765
Chromosome Location	chr5:43314129-43314130
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	FOS	chr5:43313241-43314166	K562	blood:	n/a	chr5:43313584-43313593 chr5:43313642-43313651 chr5:43313341-43313352
2	MAX	chr5:43313409-43314268	A549	lung:	n/a	n/a
3	POLR2A	chr5:43311701-43314619	GM12891	blood:	n/a	n/a
4	RFX5	chr5:43313243-43314251	GM12878	blood:	n/a	chr5:43313984-43313993 chr5:43313800-43313815 chr5:43313979-43313995 chr5:43313982-43313996 chr5:43313627-43313641 chr5:43313980-43313994
5	RUNX3	chr5:43312951-43314167	GM12878	blood:	n/a	n/a
6	MYC	chr5:43312861-43314190	NB4	blood:	n/a	n/a
7	MAX	chr5:43313221-43314130	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:43313815-43314146	SK-N-SH	brain:	n/a	n/a
9	MAFK	chr5:43313432-43314151	K562	blood:	n/a	n/a
10	MAX	chr5:43313202-43314150	SK-N-SH	brain:	n/a	n/a
11	SIN3A	chr5:43312389-43314206	H1-hESC	embryonic stem cell:	n/a	chr5:43313637-43313646
12	MYBL2	chr5:43313122-43314372	HepG2	liver:	n/a	n/a
13	SIN3A	chr5:43312653-43314228	GM12878	blood:	n/a	chr5:43313637-43313646
14	CHD2	chr5:43312990-43314147	HepG2	liver:	n/a	n/a
15	RFX5	chr5:43312424-43314698	SK-N-SH	brain:	n/a	chr5:43313984-43313993 chr5:43313800-43313815 chr5:43313979-43313995 chr5:43313982-43313996 chr5:43313627-43313641 chr5:43313980-43313994
16	MYBL2	chr5:43312996-43314329	HepG2	liver:	n/a	n/a
17	EP300	chr5:43313210-43314196	GM12878	blood:	n/a	n/a
18	FOXM1	chr5:43313140-43314178	GM12878	blood:	n/a	n/a
19	SP1	chr5:43313191-43314133	GM12878	blood:	n/a	chr5:43313401-43313413 chr5:43313639-43313651 chr5:43313719-43313730 chr5:43313641-43313650 chr5:43313734-43313743 chr5:43313581-43313595 chr5:43313732-43313743 chr5:43313639-43313651 chr5:43313584-43313596
20	EP300	chr5:43313080-43314141	ECC-1	luminal epithelium:	n/a	n/a
21	BHLHE40	chr5:43312799-43314458	K562	blood:	n/a	chr5:43313634-43313650
22	PAX5	chr5:43313091-43314140	GM12878	blood:	n/a	n/a
23	SREBP2	chr5:43313334-43314268	HepG2	liver:	n/a	n/a
24	NFYB	chr5:43313269-43314457	Hela-S3	cervix:	n/a	chr5:43313892-43313907 chr5:43313605-43313620 chr5:43313660-43313673 chr5:43313605-43313620
25	MXI1	chr5:43313440-43314293	K562	blood:	n/a	n/a
26	RCOR1	chr5:43312874-43314154	K562	blood:	n/a	n/a
27	GATA3	chr5:43313153-43316032	A549	lung:	n/a	n/a
28	MAX	chr5:43312803-43315813	A549	lung:	n/a	n/a
29	CREB1	chr5:43313012-43314217	K562	blood:	n/a	n/a
30	CHD2	chr5:43312954-43314440	GM12878	blood:	n/a	n/a
31	SP1	chr5:43313045-43314248	HepG2	liver:	n/a	chr5:43313401-43313413 chr5:43313639-43313651 chr5:43313719-43313730 chr5:43313641-43313650 chr5:43313734-43313743 chr5:43313581-43313595 chr5:43313732-43313743 chr5:43313639-43313651 chr5:43313584-43313596
32	SP1	chr5:43313089-43315859	A549	lung:	n/a	chr5:43313401-43313413 chr5:43313639-43313651 chr5:43313719-43313730 chr5:43313641-43313650 chr5:43313734-43313743 chr5:43313581-43313595 chr5:43313732-43313743 chr5:43313639-43313651 chr5:43314998-43315008 chr5:43314275-43314288 chr5:43313584-43313596
33	MAZ	chr5:43312989-43314129	GM12878	blood:	n/a	n/a
34	NR2F2	chr5:43313090-43314182	K562	blood:	n/a	n/a
35	CREB1	chr5:43312944-43314220	HepG2	liver:	n/a	n/a
36	POLR2A	chr5:43312334-43314132	K562	blood:	n/a	n/a
37	JUND	chr5:43313364-43314139	H1-hESC	embryonic stem cell:	n/a	chr5:43313584-43313593 chr5:43313642-43313651
38	TAF1	chr5:43313127-43314161	MCF-7	breast:	n/a	n/a
39	NFYA	chr5:43313296-43314400	Hela-S3	cervix:	n/a	chr5:43313864-43313882 chr5:43313605-43313620 chr5:43313660-43313673 chr5:43313605-43313620
40	SP1	chr5:43312900-43314358	HCT-116	colon:	n/a	chr5:43313401-43313413 chr5:43313639-43313651 chr5:43313719-43313730 chr5:43313641-43313650 chr5:43313734-43313743 chr5:43313581-43313595 chr5:43313732-43313743 chr5:43313639-43313651 chr5:43314275-43314288 chr5:43313584-43313596
41	POLR2A	chr5:43312692-43314236	H1-neurons	neurons:	n/a	n/a
42	HEY1	chr5:43309230-43314247	HepG2	liver:	n/a	chr5:43313631-43313646 chr5:43313293-43313308 chr5:43313636-43313651
43	MXI1	chr5:43312888-43314173	GM12878	blood:	n/a	n/a
44	CBX3	chr5:43313148-43314468	K562	blood:	n/a	n/a
45	POLR2A	chr5:43312407-43314574	Raji	blood:	n/a	n/a
46	MAX	chr5:43313006-43314157	MCF-7	breast:	n/a	n/a
47	GATA1	chr5:43313059-43314177	PBDE	blood:	n/a	n/a
48	POLR2A	chr5:43313153-43314173	PANC-1	pancreas:	n/a	n/a
49	MAZ	chr5:43312484-43314464	IMR90	lung:	n/a	n/a
50	NFIC	chr5:43313496-43314291	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:43120068..43123427-chr5:43312084..43315058,4	MCF-7	breast:
2	chr5:43311997..43315552-chr5:43481611..43486076,8	MCF-7	breast:
3	chr5:43230831..43233425-chr5:43313778..43315443,2	MCF-7	breast:
4	chr5:43064535..43068771-chr5:43312463..43314872,5	MCF-7	breast:
5	chr5:43313320..43315914-chr5:43513861..43516716,3	MCF-7	breast:
6	chr5:43312211..43314783-chr5:43395042..43398709,5	MCF-7	breast:

Variant related genes	Relation type
HMGCS1	TF binding region
ENSG00000247763	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000177738	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000172262	Chromatin interaction
ENSG00000151881	Chromatin interaction
ENSG00000151882	Chromatin interaction
ENSG00000248240	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
2	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
3	nsv508352	chr5:43237830-43391062	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1793502	chr5:43313178-43314216	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43310000-43314200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr5:43311400-43314200	Active TSS	NHLF	lung
3	chr5:43311800-43314200	Active TSS	Fetal Intestine Large	intestine
4	chr5:43312000-43314200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:43312000-43314400	Active TSS	Fetal Muscle Trunk	muscle
6	chr5:43312200-43314200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:43312400-43314200	Active TSS	A549	lung
8	chr5:43312400-43314400	Active TSS	Ovary	ovary
9	chr5:43312600-43314200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:43312600-43314200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:43312600-43314200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr5:43312600-43314200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:43312600-43314200	Active TSS	Aorta	Aorta
14	chr5:43312600-43314200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr5:43312600-43314200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr5:43312600-43314400	Active TSS	Right Ventricle	heart
17	chr5:43312600-43314600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:43312800-43314200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:43312800-43314200	Active TSS	Fetal Intestine Small	intestine
20	chr5:43312800-43314200	Active TSS	Placenta Amnion	Placenta Amnion
21	chr5:43312800-43314200	Active TSS	Psoas Muscle	Psoas
22	chr5:43312800-43314600	Active TSS	Brain Angular Gyrus	brain
23	chr5:43313000-43314200	Active TSS	Brain Cingulate Gyrus	brain
24	chr5:43313000-43314200	Active TSS	Brain Hippocampus Middle	brain
25	chr5:43313000-43314200	Active TSS	Duodenum Mucosa	Duodenum
26	chr5:43313000-43314200	Active TSS	Fetal Muscle Leg	muscle
27	chr5:43313000-43314200	Active TSS	Rectal Smooth Muscle	rectum
28	chr5:43313000-43314400	Active TSS	Brain Substantia Nigra	brain
29	chr5:43313000-43314400	Active TSS	Colon Smooth Muscle	Colon
30	chr5:43313000-43314400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr5:43313000-43314600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:43313200-43314200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr5:43313200-43314200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:43313200-43314200	Active TSS	Colonic Mucosa	Colon
35	chr5:43313200-43314200	Active TSS	Placenta	Placenta
36	chr5:43313200-43314200	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr5:43313200-43314200	Active TSS	Stomach Smooth Muscle	stomach
38	chr5:43313400-43314200	Active TSS	Fetal Brain Female	brain
39	chr5:43313600-43314200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:43313600-43314200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:43313600-43314200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:43313600-43314200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:43313600-43314200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr5:43313600-43314200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:43313600-43314200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:43313600-43314200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:43313600-43314200	Active TSS	Brain Germinal Matrix	brain
48	chr5:43313600-43314400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:43313600-43314400	Active TSS	Right Atrium	heart
50	chr5:43313600-43314400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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