Variant report

Variant	rs34727832
Chromosome Location	chr5:79286831-79286832
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	chr5:79286450-79287276	PBDE	blood:	n/a	n/a
2	MYBL2	chr5:79286714-79287402	HepG2	liver:	n/a	n/a
3	YY1	chr5:79286399-79287328	GM12878	blood:	n/a	chr5:79287051-79287071
4	MYC	chr5:79286452-79287302	MCF10A-Er-Src	breast:	n/a	n/a
5	TAF1	chr5:79286814-79287241	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr5:79286281-79287606	GM19099	blood:	n/a	n/a
7	MYC	chr5:79286777-79287196	HepG2	liver:	n/a	n/a
8	HDAC2	chr5:79286581-79287205	HepG2	liver:	n/a	n/a
9	PAX5	chr5:79286695-79287014	GM12892	blood:	n/a	n/a
10	BCLAF1	chr5:79286826-79287349	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:79286586-79287303	HEK293	kidney:	n/a	n/a
12	POLR2A	chr5:79286113-79287586	GM12878	blood:	n/a	n/a
13	MAX	chr5:79286355-79287400	HepG2	liver:	n/a	n/a
14	USF1	chr5:79286829-79287418	ECC-1	luminal epithelium:	n/a	chr5:79287113-79287122
15	MXI1	chr5:79286483-79287510	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr5:79286707-79287314	A549	lung:	n/a	chr5:79287051-79287071
17	MXI1	chr5:79286253-79287574	GM12878	blood:	n/a	n/a
18	POLR2A	chr5:79286440-79287340	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr5:79286307-79287499	Hela-S3	cervix:	n/a	n/a
20	ELK1	chr5:79286822-79287560	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr5:79286577-79287336	GM15510	blood:	n/a	n/a
22	POLR2A	chr5:79286501-79287262	Gliobla	brain:	n/a	n/a
23	ELF1	chr5:79286824-79287300	SK-N-SH	brain:	n/a	chr5:79287085-79287094 chr5:79287084-79287095 chr5:79287084-79287095 chr5:79287082-79287095
24	MXI1	chr5:79286612-79287533	HepG2	liver:	n/a	n/a
25	MAZ	chr5:79286791-79287345	HepG2	liver:	n/a	n/a
26	MAX	chr5:79286549-79287329	ECC-1	luminal epithelium:	n/a	n/a
27	YY1	chr5:79286639-79287338	ECC-1	luminal epithelium:	n/a	chr5:79287051-79287071
28	HA-E2F1	chr5:79286443-79287273	MCF-7	breast:	n/a	n/a
29	YY1	chr5:79286514-79287243	GM12891	blood:	n/a	chr5:79287051-79287071
30	POLR2A	chr5:79286531-79287276	MCF-7	breast:	n/a	n/a
31	ZKSCAN1	chr5:79286578-79287149	Hela-S3	cervix:	n/a	n/a
32	MAX	chr5:79286658-79287448	MCF-7	breast:	n/a	n/a
33	HEY1	chr5:79286589-79287335	HepG2	liver:	n/a	n/a
34	TCF7L2	chr5:79286379-79287296	Hela-S3	cervix:	n/a	n/a
35	ZNF263	chr5:79286270-79287331	HEK293-T-REx	kidney:	n/a	n/a
36	POLR2A	chr5:79286769-79287132	A549	lung:	n/a	n/a
37	POLR2A	chr5:79286689-79287184	HUVEC	blood vessel:	n/a	n/a
38	CTCF	chr5:79286820-79286970	HCPEpiC	choroid plexus:	n/a	n/a
39	GABPA	chr5:79286647-79287576	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:79285860-79287472	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr5:79285941-79287488	GM12878	blood:	n/a	n/a
42	POLR2A	chr5:79286510-79287556	HepG2	liver:	n/a	n/a
43	POU2F2	chr5:79286711-79287272	GM12891	blood:	n/a	n/a
44	CHD1	chr5:79286170-79286839	GM12878	blood:	n/a	n/a
45	BHLHE40	chr5:79286633-79287392	HepG2	liver:	n/a	chr5:79287113-79287122
46	POLR2A	chr5:79286395-79287354	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr5:79286279-79287455	SK-N-MC	brain:	n/a	n/a
48	SP1	chr5:79286670-79287356	A549	lung:	n/a	n/a
49	YY1	chr5:79286393-79287259	H1-hESC	embryonic stem cell:	n/a	chr5:79287051-79287071
50	PML	chr5:79286757-79287186	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:79284014..79286852-chr5:79290255..79291822,2	K562	blood:

Variant related genes	Relation type
THBS4	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12054701	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16877428	0.80[ASN][1000 genomes]
rs6875852	0.80[ASN][1000 genomes]
rs6878264	0.80[ASN][1000 genomes]
rs923635	0.84[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021113	chr5:79034662-79289828	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79285600-79287400	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr5:79285600-79287800	Active TSS	HMEC	breast
3	chr5:79285800-79287400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr5:79285800-79287400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:79285800-79287400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:79285800-79287400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:79285800-79287400	Active TSS	Brain Anterior Caudate	brain
8	chr5:79285800-79288000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:79285800-79288000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr5:79286000-79287200	Active TSS	Fetal Muscle Leg	muscle
11	chr5:79286000-79287400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:79286000-79287400	Active TSS	Aorta	Aorta
13	chr5:79286000-79287400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:79286000-79287400	Active TSS	Duodenum Mucosa	Duodenum
15	chr5:79286000-79287400	Active TSS	Fetal Intestine Large	intestine
16	chr5:79286000-79287400	Active TSS	Psoas Muscle	Psoas
17	chr5:79286000-79287400	Active TSS	HSMM	muscle
18	chr5:79286000-79287600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr5:79286000-79287600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:79286000-79287600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr5:79286000-79287800	Active TSS	H9 Cell Line	embryonic stem cell
22	chr5:79286000-79288000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr5:79286000-79288000	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr5:79286000-79288000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:79286200-79287200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr5:79286200-79287200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr5:79286200-79287200	Active TSS	Fetal Brain Male	brain
28	chr5:79286200-79287200	Active TSS	Fetal Intestine Small	intestine
29	chr5:79286200-79287200	Active TSS	Fetal Kidney	kidney
30	chr5:79286200-79287200	Active TSS	Fetal Stomach	stomach
31	chr5:79286200-79287200	Active TSS	NHDF-Ad	bronchial
32	chr5:79286200-79287400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:79286200-79287400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr5:79286200-79287400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:79286200-79287400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr5:79286200-79287400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr5:79286200-79287400	Active TSS	Placenta Amnion	Placenta Amnion
38	chr5:79286200-79287400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr5:79286200-79287400	Active TSS	Right Ventricle	heart
40	chr5:79286200-79287400	Active TSS	HSMMtube	muscle
41	chr5:79286200-79287600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:79286200-79287600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr5:79286200-79287600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:79286200-79287600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr5:79286200-79287600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:79286200-79287600	Active TSS	Ovary	ovary
47	chr5:79286200-79287600	Active TSS	GM12878-XiMat	blood
48	chr5:79286200-79287800	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr5:79286200-79287800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr5:79286200-79287800	Active TSS	Brain Substantia Nigra	brain

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