Variant report

Variant	rs72718210
Chromosome Location	chr14:69443031-69443032
allele	A/C
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	HNF4G	chr14:69442709-69443262	HepG2	liver:	n/a	chr14:69443042-69443054 chr14:69443041-69443056 chr14:69443041-69443054
2	HDAC2	chr14:69442764-69443484	HepG2	liver:	n/a	n/a
3	RXRA	chr14:69442787-69443182	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:69442166-69443097	U87	brain:	n/a	n/a
5	POLR2A	chr14:69441718-69446518	HepG2	liver:	n/a	n/a
6	MXI1	chr14:69441660-69447416	IMR90	lung:	n/a	n/a
7	CHD1	chr14:69441180-69450261	IMR90	lung:	n/a	chr14:69446695-69446705
8	MYBL2	chr14:69442809-69443276	HepG2	liver:	n/a	n/a
9	MBD4	chr14:69442731-69443358	HepG2	liver:	n/a	n/a
10	HEY1	chr14:69442787-69443378	HepG2	liver:	n/a	n/a
11	MAX	chr14:69442988-69443488	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:69442936-69443523	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr14:69442979-69443517	HepG2	liver:	n/a	n/a
14	MAX	chr14:69442257-69443651	HepG2	liver:	n/a	chr14:69442450-69442457 chr14:69442448-69442459 chr14:69442447-69442460 chr14:69442449-69442459 chr14:69442449-69442458
15	FOXA2	chr14:69442879-69443238	HepG2	liver:	n/a	n/a
16	POLR2A	chr14:69442868-69443218	HepG2	liver:	n/a	n/a
17	MAZ	chr14:69442913-69443350	HepG2	liver:	n/a	n/a
18	MAZ	chr14:69442284-69447004	IMR90	lung:	n/a	chr14:69442450-69442457 chr14:69442448-69442459 chr14:69446258-69446267 chr14:69446222-69446232 chr14:69442447-69442460 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69442449-69442459 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430 chr14:69442449-69442458
19	POLR2A	chr14:69442813-69443284	HepG2	liver:	n/a	n/a
20	MXI1	chr14:69442876-69443529	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:69442290-69443666	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:69441592-69445621	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr14:69442894-69443206	HepG2	liver:	n/a	n/a
24	RCOR1	chr14:69442909-69443233	HepG2	liver:	n/a	n/a
25	SP1	chr14:69442716-69443333	HepG2	liver:	n/a	chr14:69443305-69443315 chr14:69443063-69443072 chr14:69443305-69443314 chr14:69443062-69443071 chr14:69443061-69443073 chr14:69443305-69443314 chr14:69443002-69443016 chr14:69443062-69443072
26	POLR2A	chr14:69442814-69443586	HepG2	liver:	n/a	n/a
27	EP300	chr14:69442758-69443342	HepG2	liver:	n/a	chr14:69442994-69443007
28	ZNF263	chr14:69442769-69443343	HEK293-T-REx	kidney:	n/a	chr14:69442972-69442993 chr14:69442994-69443015
29	POLR2A	chr14:69442829-69443157	H1-hESC	embryonic stem cell:	n/a	n/a
30	HNF4A	chr14:69442735-69443274	HepG2	liver:	n/a	chr14:69443040-69443055 chr14:69443042-69443054 chr14:69443041-69443054
31	FOXA1	chr14:69442808-69443329	HepG2	liver:	n/a	chr14:69443231-69443243
32	POLR2A	chr14:69442967-69443732	K562	blood:	n/a	n/a
33	HNF4G	chr14:69442709-69443376	HepG2	liver:	n/a	chr14:69443042-69443054 chr14:69443041-69443056 chr14:69443041-69443054
34	HNF4A	chr14:69442822-69443311	HepG2	liver:	n/a	chr14:69443040-69443055 chr14:69443042-69443054 chr14:69443041-69443054
35	MYBL2	chr14:69442710-69443416	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:69442983-69443917	A549	lung:	n/a	n/a
37	MAX	chr14:69442735-69443701	HepG2	liver:	n/a	n/a
38	MXI1	chr14:69442097-69447256	SK-N-SH	brain:	n/a	n/a
39	HNF4A	chr14:69442825-69443230	HepG2	liver:	n/a	chr14:69443040-69443055 chr14:69443042-69443054 chr14:69443041-69443054
40	BHLHE40	chr14:69442875-69443491	HepG2	liver:	n/a	n/a
41	POLR2A	chr14:69442571-69447283	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr14:69442911-69443336	SK-N-SH	brain:	n/a	n/a
43	POLR2A	chr14:69441290-69449923	IMR90	lung:	n/a	n/a
44	POLR2A	chr14:69441164-69443163	U87	brain:	n/a	n/a
45	POLR2A	chr14:69442232-69447465	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
2	chr14:69441561..69443821-chr6:122931001..122932824,2	MCF-7	breast:
3	chr14:69442323..69443910-chr14:69472341..69473881,2	MCF-7	breast:
4	chr14:69441449..69443783-chr14:69546294..69548091,2	K562	blood:
5	chr14:69261314..69263006-chr14:69442785..69445190,2	MCF-7	breast:
6	chr14:69441719..69443220-chr14:69520758..69522938,2	MCF-7	breast:
7	chr14:69385888..69393669-chr14:69442988..69447287,14	MCF-7	breast:
8	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
9	chr14:69442124..69444502-chr20:46130530..46133122,2	MCF-7	breast:

Variant related genes	Relation type
ACTN1-AS1	TF binding region
ENSG00000124151	Chromatin interaction
ENSG00000072110	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000258531	Chromatin interaction
ENSG00000135549	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10131417	0.85[EUR][1000 genomes]
rs11846999	0.85[EUR][1000 genomes]
rs11847083	0.85[EUR][1000 genomes]
rs11850741	0.83[EUR][1000 genomes]
rs17758097	0.88[EUR][1000 genomes]
rs17835991	0.85[EUR][1000 genomes]
rs2284906	0.85[EUR][1000 genomes]
rs58291960	0.85[EUR][1000 genomes]
rs67356344	0.85[EUR][1000 genomes]
rs7144924	0.81[EUR][1000 genomes]
rs72718212	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718216	0.91[EUR][1000 genomes]
rs72718217	0.91[EUR][1000 genomes]
rs730635	1.00[AMR][1000 genomes];0.96[EUR][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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69428600-69443400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:69429400-69443800	Weak transcription	Brain Germinal Matrix	brain
3	chr14:69431800-69444000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
4	chr14:69437800-69443600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr14:69438200-69443200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:69438400-69444400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:69438800-69443400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:69438800-69444000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:69439000-69443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:69439200-69444400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
11	chr14:69439400-69443400	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr14:69440400-69443400	Transcr. at gene 5' and 3'	NHLF	lung
13	chr14:69440600-69443400	Enhancers	Colonic Mucosa	Colon
14	chr14:69440600-69444000	Enhancers	Stomach Mucosa	stomach
15	chr14:69440600-69444400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:69440800-69443200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:69440800-69443600	Enhancers	Right Ventricle	heart
18	chr14:69441000-69443400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:69441200-69443400	Genic enhancers	Fetal Intestine Small	intestine
20	chr14:69441200-69443400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr14:69441200-69443800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:69441200-69444000	Enhancers	Left Ventricle	heart
23	chr14:69441200-69444200	Transcr. at gene 5' and 3'	NHEK	skin
24	chr14:69441200-69445200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:69441400-69443600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr14:69441400-69443800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr14:69441400-69444400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:69441600-69443200	Enhancers	Adipose Nuclei	Adipose
29	chr14:69441600-69443200	Transcr. at gene 5' and 3'	HSMM	muscle
30	chr14:69441600-69443400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr14:69441600-69443400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr14:69441600-69443400	Enhancers	Liver	Liver
33	chr14:69441600-69443400	Enhancers	Pancreas	Pancrea
34	chr14:69441600-69443600	Enhancers	Ovary	ovary
35	chr14:69441600-69443800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:69441600-69444000	Enhancers	Fetal Thymus	thymus
37	chr14:69441600-69444200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:69441600-69444400	Transcr. at gene 5' and 3'	HMEC	breast
39	chr14:69441800-69443400	Genic enhancers	H9 Cell Line	embryonic stem cell
40	chr14:69441800-69443400	Genic enhancers	Dnd41	blood
41	chr14:69441800-69443400	Enhancers	K562	blood
42	chr14:69441800-69443600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr14:69441800-69444000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr14:69441800-69444400	Transcr. at gene 5' and 3'	Osteobl	bone
45	chr14:69441800-69444600	Enhancers	Spleen	Spleen
46	chr14:69441800-69445200	Transcr. at gene 5' and 3'	A549	lung
47	chr14:69442000-69443400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:69442000-69443400	Enhancers	Brain Hippocampus Middle	brain
49	chr14:69442000-69443400	Enhancers	Esophagus	oesophagus
50	chr14:69442000-69443400	Enhancers	Fetal Heart	heart

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