Variant report

Variant	rs72913573
Chromosome Location	chr1:59283046-59283047
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:59280614-59283094	U87	brain:	n/a	n/a
2	POLR2A	chr1:59282938-59283282	ECC-1	luminal epithelium:	n/a	n/a
3	HCFC1	chr1:59279712-59283086	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:59280667-59283088	U87	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:59279353..59283854-chr1:59287313..59291525,6	MCF-7	breast:
2	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
3	chr1:59280122..59283663-chr1:59349956..59353437,4	K562	blood:
4	chr1:59281044..59283680-chr1:59353136..59355336,2	K562	blood:
5	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:
6	chr1:59243458..59255133-chr1:59272031..59283720,29	K562	blood:
7	chr1:59279921..59284497-chr1:59286325..59289409,4	K562	blood:
8	chr1:59280334..59283471-chr1:59294258..59298511,4	K562	blood:
9	chr1:59280920..59283588-chr1:59288340..59291242,3	MCF-7	breast:
10	chr1:59280214..59283774-chr1:59346159..59349299,3	MCF-7	breast:
11	chr1:59279591..59281416-chr1:59282634..59284464,2	MCF-7	breast:
12	chr1:59279498..59283509-chr1:59392349..59395635,3	MCF-7	breast:
13	chr1:59280957..59283269-chr1:60161971..60164476,2	MCF-7	breast:
14	chr1:59258641..59262017-chr1:59281438..59284393,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272226	TF binding region
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs3885883	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56047424	1.00[EUR][1000 genomes]
rs57500803	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59164731	1.00[EUR][1000 genomes]
rs59193866	1.00[EUR][1000 genomes]
rs59558908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60869213	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61294750	1.00[EUR][1000 genomes]
rs61659376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911528	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911533	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911538	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911540	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911542	1.00[ASN][1000 genomes]
rs72911543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911546	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911552	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913576	1.00[EUR][1000 genomes]
rs72913582	1.00[EUR][1000 genomes]
rs72913585	1.00[EUR][1000 genomes]
rs72913586	1.00[EUR][1000 genomes]
rs72913589	1.00[EUR][1000 genomes]
rs72913594	1.00[EUR][1000 genomes]
rs72913595	1.00[EUR][1000 genomes]
rs72913598	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913599	1.00[EUR][1000 genomes]
rs72913601	1.00[EUR][1000 genomes]
rs72915503	1.00[EUR][1000 genomes]
rs72915504	1.00[EUR][1000 genomes]
rs72915505	1.00[EUR][1000 genomes]
rs72915506	1.00[EUR][1000 genomes]
rs72915521	1.00[EUR][1000 genomes]
rs72915522	1.00[EUR][1000 genomes]
rs72915524	1.00[EUR][1000 genomes]
rs72915527	1.00[EUR][1000 genomes]
rs72919563	1.00[EUR][1000 genomes]
rs72919564	1.00[EUR][1000 genomes]
rs72919573	1.00[EUR][1000 genomes]
rs72919582	1.00[EUR][1000 genomes]
rs72919585	1.00[EUR][1000 genomes]
rs72919586	1.00[EUR][1000 genomes]
rs7519169	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59279800-59283400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:59282400-59283200	Enhancers	Stomach Mucosa	stomach
3	chr1:59282400-59284200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:59282400-59284400	Enhancers	HSMM	muscle
5	chr1:59282400-59284600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:59282400-59284600	Enhancers	HMEC	breast
7	chr1:59282400-59285000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:59282400-59285000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:59282400-59285800	Enhancers	NHEK	skin
10	chr1:59282400-59286000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:59282400-59286000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:59282400-59286000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:59282400-59287000	Weak transcription	Esophagus	oesophagus
14	chr1:59282400-59289200	Weak transcription	Placenta	Placenta
15	chr1:59282400-59289800	Weak transcription	Gastric	stomach
16	chr1:59282400-59290200	Weak transcription	Lung	lung
17	chr1:59282400-59290400	Weak transcription	Pancreas	Pancrea
18	chr1:59282400-59293800	Weak transcription	Aorta	Aorta
19	chr1:59282600-59283200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:59282600-59283200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:59282600-59283200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:59282600-59283600	Weak transcription	Fetal Lung	lung
23	chr1:59282600-59284000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:59282600-59284000	Enhancers	Hela-S3	cervix
25	chr1:59282600-59285200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:59282600-59285800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:59282600-59285800	Enhancers	NH-A	brain
28	chr1:59282600-59285800	Enhancers	NHDF-Ad	bronchial
29	chr1:59282600-59285800	Enhancers	NHLF	lung
30	chr1:59282600-59285800	Enhancers	Osteobl	bone
31	chr1:59282600-59286000	Enhancers	HUVEC	blood vessel
32	chr1:59282600-59287000	Weak transcription	Left Ventricle	heart
33	chr1:59282600-59288800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:59282600-59290200	Weak transcription	Ovary	ovary
35	chr1:59282600-59290200	Weak transcription	Right Atrium	heart
36	chr1:59282600-59290200	Weak transcription	Right Ventricle	heart
37	chr1:59282800-59283200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:59282800-59283200	Enhancers	Adipose Nuclei	Adipose
39	chr1:59282800-59283400	Enhancers	K562	blood
40	chr1:59282800-59283600	Weak transcription	Fetal Stomach	stomach
41	chr1:59282800-59283600	Enhancers	A549	lung
42	chr1:59282800-59285000	Weak transcription	Fetal Intestine Small	intestine
43	chr1:59282800-59285200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:59282800-59285400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:59282800-59285400	Weak transcription	Fetal Intestine Large	intestine
46	chr1:59282800-59285800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:59282800-59285800	Weak transcription	Fetal Heart	heart
48	chr1:59282800-59288600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr1:59282800-59288800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:59282800-59289000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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