Variant report

Variant	rs28648660
Chromosome Location	chr15:73068431-73068432
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73006465..73009251-chr15:73067136..73069749,2	K562	blood:
2	chr15:73013682..73015798-chr15:73066928..73069614,2	K562	blood:

Variant related genes	Relation type
ENSG00000140463	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11072380	0.86[ASN][1000 genomes]
rs11072383	0.91[ASN][1000 genomes]
rs11072389	1.00[ASN][1000 genomes]
rs11856110	0.88[ASN][1000 genomes]
rs12437473	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439200	1.00[ASN][1000 genomes]
rs12439473	1.00[ASN][1000 genomes]
rs12591690	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12591728	0.84[EUR][1000 genomes]
rs12594320	0.94[ASN][1000 genomes]
rs12898814	0.93[EUR][1000 genomes]
rs12902361	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12906007	0.89[ASN][1000 genomes]
rs12916236	0.99[ASN][1000 genomes]
rs12916448	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1346165	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16957257	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16957297	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2162268	0.89[EUR][1000 genomes]
rs2304598	0.99[ASN][1000 genomes]
rs28397892	0.86[EUR][1000 genomes]
rs28562097	0.96[ASN][1000 genomes]
rs28737436	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28801790	0.99[ASN][1000 genomes]
rs28827493	1.00[ASN][1000 genomes]
rs28866048	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs33923961	0.81[EUR][1000 genomes]
rs34660767	0.99[ASN][1000 genomes]
rs34940604	0.81[EUR][1000 genomes]
rs4777541	1.00[ASN][1000 genomes]
rs6495017	0.88[ASN][1000 genomes]
rs6495018	0.81[ASN][1000 genomes]
rs7162166	0.84[EUR][1000 genomes]
rs7170394	0.91[ASN][1000 genomes]
rs7172397	0.91[ASN][1000 genomes]
rs7175918	0.91[ASN][1000 genomes]
rs7182854	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8023358	0.94[ASN][1000 genomes]
rs8024644	0.94[ASN][1000 genomes]
rs8026559	0.88[ASN][1000 genomes]
rs8031691	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036269	1.00[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	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73041800-73071000	Strong transcription	Liver	Liver
2	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
3	chr15:73045000-73074200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:73045200-73074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:73048600-73075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:73057200-73069600	Strong transcription	Hela-S3	cervix
7	chr15:73058400-73069000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:73059200-73069600	Strong transcription	HSMM	muscle
9	chr15:73060000-73074000	Weak transcription	Stomach Mucosa	stomach
10	chr15:73060000-73075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:73060200-73075200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:73060400-73070800	Strong transcription	Dnd41	blood
13	chr15:73060400-73073200	Weak transcription	Colon Smooth Muscle	Colon
14	chr15:73060600-73072000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr15:73061200-73070000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:73061400-73073400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:73061400-73073600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:73061400-73075000	Weak transcription	Fetal Kidney	kidney
19	chr15:73061800-73068600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:73062000-73068600	Strong transcription	K562	blood
21	chr15:73062600-73073600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:73062800-73073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:73062800-73074000	Weak transcription	Small Intestine	intestine
24	chr15:73064000-73071400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:73065000-73072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr15:73065000-73073800	Weak transcription	HMEC	breast
27	chr15:73065000-73074200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:73065200-73073800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:73065400-73071200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:73065400-73074000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr15:73065400-73074200	Weak transcription	Brain Germinal Matrix	brain
32	chr15:73065600-73073600	Weak transcription	Brain Anterior Caudate	brain
33	chr15:73065800-73073200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr15:73066000-73073600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr15:73066400-73073800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:73066600-73069400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:73066600-73069600	Genic enhancers	Primary monocytes fromperipheralblood	blood
38	chr15:73066800-73072800	Weak transcription	Fetal Lung	lung
39	chr15:73066800-73074200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:73067000-73073200	Weak transcription	Spleen	Spleen
41	chr15:73067000-73074200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:73067000-73075000	Weak transcription	Esophagus	oesophagus
43	chr15:73067200-73068800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr15:73067200-73069600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
45	chr15:73067200-73073200	Weak transcription	Gastric	stomach
46	chr15:73067200-73073400	Weak transcription	Brain Hippocampus Middle	brain
47	chr15:73067200-73073600	Weak transcription	Brain Substantia Nigra	brain
48	chr15:73067200-73074000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr15:73067400-73068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr15:73067400-73069200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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