Variant report

Variant	rs72744130
Chromosome Location	chr1:223196270-223196271
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223190305..223191926-chr1:223196099..223197954,2	K562	blood:
2	chr1:223190301..223192365-chr1:223194147..223196886,3	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72744127	0.86[EUR][1000 genomes]
rs72744129	0.86[EUR][1000 genomes]
rs72744131	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72744138	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72744147	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72744150	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72744151	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72744152	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72744154	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72744159	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72744160	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72744162	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72744164	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72744166	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv917330	chr1:223141547-223225893	Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223184800-223204800	Weak transcription	Stomach Mucosa	stomach
2	chr1:223185000-223196800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:223192200-223204200	Weak transcription	Right Ventricle	heart
4	chr1:223193600-223196600	Genic enhancers	H1 Cell Line	embryonic stem cell
5	chr1:223193800-223197600	Enhancers	Fetal Muscle Leg	muscle
6	chr1:223194200-223197400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:223194200-223197400	Enhancers	Fetal Muscle Trunk	muscle
8	chr1:223194400-223196600	Genic enhancers	H9 Cell Line	embryonic stem cell
9	chr1:223194800-223197800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:223194800-223200000	Weak transcription	Gastric	stomach
11	chr1:223195200-223197600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:223195200-223197600	Enhancers	Left Ventricle	heart
13	chr1:223195200-223197800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:223195400-223196400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:223195400-223197000	Enhancers	Spleen	Spleen
16	chr1:223195400-223197400	Enhancers	Placenta	Placenta
17	chr1:223195400-223197800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:223195400-223197800	Enhancers	Fetal Lung	lung
19	chr1:223195400-223197800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:223195600-223196400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:223195600-223196400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:223195600-223196400	Bivalent Enhancer	Fetal Stomach	stomach
23	chr1:223195600-223196400	Enhancers	Stomach Smooth Muscle	stomach
24	chr1:223195600-223196400	Enhancers	NHEK	skin
25	chr1:223195600-223196800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:223195600-223196800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:223195600-223196800	Enhancers	Adipose Nuclei	Adipose
28	chr1:223195600-223197000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:223195600-223197200	Enhancers	Esophagus	oesophagus
30	chr1:223195600-223197200	Genic enhancers	Right Atrium	heart
31	chr1:223195600-223197200	Enhancers	Hela-S3	cervix
32	chr1:223195600-223197200	Enhancers	HSMM	muscle
33	chr1:223195600-223197200	Enhancers	HSMMtube	muscle
34	chr1:223195600-223197600	Enhancers	Lung	lung
35	chr1:223195600-223197800	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
36	chr1:223195800-223196400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:223195800-223196400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:223195800-223196800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:223195800-223196800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:223195800-223197000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:223195800-223197000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:223195800-223197000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:223195800-223197000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:223196000-223196400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr1:223196000-223196600	Enhancers	Rectal Smooth Muscle	rectum
46	chr1:223196000-223196800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:223196000-223197200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:223196000-223197200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr1:223196000-223197200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:223196200-223196600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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