Variant report

Variant	rs73589609
Chromosome Location	chr14:24706213-24706214
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24704773-24706632	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr14:24705727-24706687	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:24704969-24707099	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr14:24703308-24706319	A549	lung:	n/a	n/a
5	POLR2A	chr14:24705324-24708328	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:24704919-24706771	GM12878	blood:	n/a	n/a
7	POLR2A	chr14:24705490-24706490	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr14:24705427-24706675	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr14:24705467-24706778	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:24703342-24707196	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:24704697-24709817	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:24705526-24706601	PBDE	blood:	n/a	n/a
13	POLR2A	chr14:24706200-24706764	K562	blood:	n/a	n/a
14	POLR2A	chr14:24705666-24707034	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:24705971-24706557	K562	blood:	n/a	n/a
16	POLR2A	chr14:24700829-24709886	GM12891	blood:	n/a	n/a
17	POLR2A	chr14:24704543-24710046	K562	blood:	n/a	n/a
18	POLR2A	chr14:24705801-24706312	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:24704835-24708499	GM12892	blood:	n/a	n/a
20	POLR2A	chr14:24705551-24706426	HepG2	liver:	n/a	n/a
21	POLR2A	chr14:24705946-24706568	U87	brain:	n/a	n/a
22	POLR2A	chr14:24699754-24707843	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr14:24705409-24706767	GM12891	blood:	n/a	n/a
24	HEY1	chr14:24705472-24706644	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:24706162-24706779	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:24705817-24706611	GM12891	blood:	n/a	n/a
27	POLR2A	chr14:24705799-24706472	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr14:24706190-24706467	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:24705895-24706827	U87	brain:	n/a	n/a
30	POLR2A	chr14:24705186-24706756	HepG2	liver:	n/a	n/a
31	POLR2A	chr14:24705293-24707057	GM12891	blood:	n/a	n/a
32	POLR2A	chr14:24700092-24709898	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr14:24705638-24710665	GM12892	blood:	n/a	n/a
34	POLR2A	chr14:24704853-24706750	GM12891	blood:	n/a	n/a
35	POLR2A	chr14:24705340-24707695	GM12892	blood:	n/a	n/a
36	POLR2A	chr14:24700264-24710645	HepG2	liver:	n/a	n/a
37	POLR2A	chr14:24705432-24706559	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr14:24705454-24706440	MCF-7	breast:	n/a	n/a
39	POLR2A	chr14:24706105-24706230	Hela-S3	cervix:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24563915..24565776-chr14:24704916..24706670,2	MCF-7	breast:
2	chr14:24703994..24706350-chr14:24732461..24734392,2	K562	blood:
3	chr14:24702582..24706480-chr14:24770203..24773016,3	K562	blood:
4	chr14:24583118..24584838-chr14:24705953..24708804,2	MCF-7	breast:
5	chr14:24658118..24660026-chr14:24704651..24707392,2	MCF-7	breast:
6	chr14:23340376..23342459-chr14:24704208..24707097,2	MCF-7	breast:
7	chr14:24705394..24707456-chr14:24899113..24901085,2	MCF-7	breast:
8	chr14:24701050..24707093-chr14:24765824..24771703,7	K562	blood:
9	chr14:24685104..24687849-chr14:24703499..24706342,3	K562	blood:

No data

Variant related genes	Relation type
GMPR2	TF binding region
NEDD8-MDP1	TF binding region
NEDD8	TF binding region
ENSG00000139899	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000197324	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000213920	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17102177	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102313	0.81[AFR][1000 genomes]
rs34113897	0.81[AFR][1000 genomes]
rs35692401	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41293956	0.83[AFR][1000 genomes]
rs73589611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589614	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73589619	0.83[AFR][1000 genomes]
rs73589622	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604958	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604965	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604967	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73604983	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24702800-24711200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:24703000-24706400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:24703000-24707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:24703000-24709600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr14:24703000-24711000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:24703200-24708200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:24703200-24708600	Weak transcription	Stomach Mucosa	stomach
8	chr14:24703200-24709600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
9	chr14:24703400-24710200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr14:24703400-24710400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:24703400-24710400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:24703400-24710400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:24703400-24710600	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:24703600-24707400	Strong transcription	Placenta	Placenta
15	chr14:24703600-24708400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:24703600-24709000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:24703600-24709000	Strong transcription	Brain Substantia Nigra	brain
18	chr14:24703600-24709000	Weak transcription	Right Atrium	heart
19	chr14:24703600-24709600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:24703800-24706400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr14:24703800-24706400	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:24703800-24707800	Strong transcription	Primary B cells from cord blood	blood
23	chr14:24703800-24708000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:24703800-24708400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:24703800-24709000	Strong transcription	Fetal Thymus	thymus
26	chr14:24703800-24709200	Strong transcription	Fetal Muscle Leg	muscle
27	chr14:24703800-24710400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr14:24703800-24710400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:24704000-24707400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:24704000-24707600	Strong transcription	Primary T cells from cord blood	blood
31	chr14:24704000-24707600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:24704000-24708000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:24704000-24708600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr14:24704000-24708800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:24704000-24709000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr14:24704000-24709000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr14:24704000-24709200	Strong transcription	Brain Cingulate Gyrus	brain
38	chr14:24704000-24710600	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr14:24704200-24707400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:24704200-24707400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:24704200-24707800	Strong transcription	Adipose Nuclei	Adipose
42	chr14:24704200-24707800	Strong transcription	NH-A	brain
43	chr14:24704200-24708000	Strong transcription	Liver	Liver
44	chr14:24704200-24708000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr14:24704200-24708200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:24704200-24708800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr14:24704200-24709000	Strong transcription	Brain Anterior Caudate	brain
48	chr14:24704200-24709000	Weak transcription	Fetal Heart	heart
49	chr14:24704200-24709000	Strong transcription	Fetal Lung	lung
50	chr14:24704200-24710000	Strong transcription	A549	lung

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