Variant report

Variant	rs72744129
Chromosome Location	chr1:223194031-223194032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223187874..223189640-chr1:223192469..223194098,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs72744126	0.84[ASN][1000 genomes]
rs72744127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72744130	0.86[EUR][1000 genomes]
rs72744131	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72744138	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72744147	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72744150	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72744151	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72744152	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72744154	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72744159	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72744160	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72744162	0.83[AMR][1000 genomes]
rs72744164	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72744166	0.83[AMR][1000 genomes];0.86[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223178800-223194600	Weak transcription	Gastric	stomach
2	chr1:223179200-223195400	Weak transcription	Spleen	Spleen
3	chr1:223184800-223204800	Weak transcription	Stomach Mucosa	stomach
4	chr1:223185000-223196800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:223185200-223196000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:223186600-223195400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:223190200-223195600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:223190600-223195200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:223190600-223195600	Weak transcription	Adipose Nuclei	Adipose
10	chr1:223190600-223195800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:223190800-223194600	Weak transcription	Lung	lung
12	chr1:223190800-223194600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:223191800-223195600	Weak transcription	Esophagus	oesophagus
14	chr1:223192000-223194200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:223192200-223194600	Weak transcription	Left Ventricle	heart
16	chr1:223192200-223195600	Weak transcription	Right Atrium	heart
17	chr1:223192200-223204200	Weak transcription	Right Ventricle	heart
18	chr1:223192600-223196200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:223193000-223194400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:223193000-223195200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:223193000-223195400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:223193200-223194400	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr1:223193200-223195400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:223193200-223195400	Weak transcription	Fetal Lung	lung
25	chr1:223193200-223195600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:223193200-223196000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:223193200-223196200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:223193400-223194200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:223193400-223195600	Weak transcription	Hela-S3	cervix
30	chr1:223193400-223195800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:223193600-223194200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:223193600-223196600	Genic enhancers	H1 Cell Line	embryonic stem cell
33	chr1:223193800-223195400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:223193800-223195600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:223193800-223197600	Enhancers	Fetal Muscle Leg	muscle
36	chr1:223194000-223194200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell

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