Variant report

Variant	rs73113914
Chromosome Location	chr1:223196717-223196718
allele	A/T
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: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs36056653	1.00[AMR][1000 genomes]
rs5744162	1.00[AMR][1000 genomes]
rs73113906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113918	1.00[AMR][1000 genomes]
rs73113929	1.00[AMR][1000 genomes]
rs73113937	1.00[AMR][1000 genomes]
rs73113940	1.00[AMR][1000 genomes]
rs73115872	1.00[AMR][1000 genomes]
rs73115888	1.00[AMR][1000 genomes]
rs73118103	1.00[AMR][1000 genomes]
rs73118104	1.00[AMR][1000 genomes]
rs73118106	1.00[AMR][1000 genomes]
rs73118108	1.00[AMR][1000 genomes]
rs73118111	1.00[AMR][1000 genomes]
rs73118118	1.00[AMR][1000 genomes]
rs73118120	1.00[AMR][1000 genomes]
rs73118121	1.00[AMR][1000 genomes]
rs73120209	1.00[AMR][1000 genomes]
rs73120240	1.00[AMR][1000 genomes]
rs73120248	1.00[AMR][1000 genomes]
rs73120252	1.00[AMR][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:49 , 50 per page) page: 1

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	chr1:223193800-223197600	Enhancers	Fetal Muscle Leg	muscle
5	chr1:223194200-223197400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:223194200-223197400	Enhancers	Fetal Muscle Trunk	muscle
7	chr1:223194800-223197800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:223194800-223200000	Weak transcription	Gastric	stomach
9	chr1:223195200-223197600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:223195200-223197600	Enhancers	Left Ventricle	heart
11	chr1:223195200-223197800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:223195400-223197000	Enhancers	Spleen	Spleen
13	chr1:223195400-223197400	Enhancers	Placenta	Placenta
14	chr1:223195400-223197800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:223195400-223197800	Enhancers	Fetal Lung	lung
16	chr1:223195400-223197800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:223195600-223196800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:223195600-223196800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:223195600-223196800	Enhancers	Adipose Nuclei	Adipose
20	chr1:223195600-223197000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:223195600-223197200	Enhancers	Esophagus	oesophagus
22	chr1:223195600-223197200	Genic enhancers	Right Atrium	heart
23	chr1:223195600-223197200	Enhancers	Hela-S3	cervix
24	chr1:223195600-223197200	Enhancers	HSMM	muscle
25	chr1:223195600-223197200	Enhancers	HSMMtube	muscle
26	chr1:223195600-223197600	Enhancers	Lung	lung
27	chr1:223195600-223197800	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
28	chr1:223195800-223196800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:223195800-223196800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:223195800-223197000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:223195800-223197000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:223195800-223197000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:223195800-223197000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr1:223196000-223196800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:223196000-223197200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:223196000-223197200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr1:223196000-223197200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr1:223196200-223198000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
39	chr1:223196400-223196800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:223196400-223197000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr1:223196400-223197200	Enhancers	Fetal Stomach	stomach
42	chr1:223196400-223197800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
43	chr1:223196400-223197800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
44	chr1:223196400-223197800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
45	chr1:223196600-223196800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:223196600-223197600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:223196600-223197800	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
48	chr1:223196600-223198000	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
49	chr1:223196600-223198000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell

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