Variant report

Variant	rs72633638
Chromosome Location	chr1:151424129-151424130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
2	chr1:151418228..151420627-chr1:151423254..151425635,2	MCF-7	breast:
3	chr1:151423878..151427557-chr1:151430240..151433379,4	K562	blood:
4	1:151411623-151426875..1:151592347-151603110	GM12878	blood:
5	1:151171193-151178589..1:151411623-151426875	GM12878	blood:
6	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
7	chr1:151422588..151424800-chr1:151482692..151484945,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143442	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143375	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11204806	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11204820	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12566457	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12566673	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1571294	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16833248	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16833263	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16833274	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296840	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3748549	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4147451	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4354539	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4970916	0.82[EUR][1000 genomes]
rs4970953	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56317453	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58057716	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59153459	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59848815	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6587574	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6587586	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6669679	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6704126	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67750241	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72633634	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72633635	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72633636	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633637	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72633639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7548614	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9729256	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv1811070	chr1:151403570-151433317	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv824587	chr1:151424031-151426011	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151398400-151429600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:151401000-151430000	Weak transcription	Esophagus	oesophagus
3	chr1:151401600-151429200	Weak transcription	Spleen	Spleen
4	chr1:151405800-151428400	Weak transcription	Right Atrium	heart
5	chr1:151410200-151429800	Weak transcription	Lung	lung
6	chr1:151411400-151427200	Weak transcription	Right Ventricle	heart
7	chr1:151411400-151430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:151412600-151429200	Weak transcription	Brain Germinal Matrix	brain
9	chr1:151413600-151429800	Weak transcription	Pancreas	Pancrea
10	chr1:151413600-151430000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:151413800-151428000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:151413800-151429400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:151413800-151429800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:151414000-151429600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:151414200-151425400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:151414200-151430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:151414400-151429000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr1:151414400-151429400	Weak transcription	Fetal Kidney	kidney
19	chr1:151414400-151429400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:151414600-151428200	Weak transcription	Fetal Brain Female	brain
21	chr1:151414600-151429000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:151414600-151429000	Weak transcription	Small Intestine	intestine
23	chr1:151414600-151429200	Weak transcription	Fetal Brain Male	brain
24	chr1:151414600-151430400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:151414800-151427600	Weak transcription	K562	blood
26	chr1:151414800-151429600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr1:151415000-151429400	Weak transcription	Placenta	Placenta
28	chr1:151415200-151425600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:151415200-151429000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr1:151416400-151429400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:151416600-151427200	Weak transcription	Adipose Nuclei	Adipose
32	chr1:151416800-151426200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:151416800-151429600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:151417000-151426000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:151417000-151426400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:151417000-151428800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:151417000-151429200	Weak transcription	HUVEC	blood vessel
38	chr1:151417200-151427600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:151417200-151428600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:151417200-151429000	Weak transcription	HSMMtube	muscle
41	chr1:151417400-151426600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr1:151417400-151429600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:151417600-151424800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:151417600-151426200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:151417600-151427600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:151417600-151428400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr1:151417600-151428400	Weak transcription	NHDF-Ad	bronchial
48	chr1:151417600-151428600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:151417600-151428800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:151417600-151428800	Weak transcription	Hela-S3	cervix

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