Variant report

Variant	rs28431056
Chromosome Location	chr15:43010138-43010139
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	chr15:43004420..43008133-chr15:43008696..43011545,3	K562	blood:
2	chr15:43007694..43010580-chr15:43015984..43019053,4	K562	blood:

Variant related genes	Relation type
ENSG00000140326	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12323990	0.98[ASN][1000 genomes]
rs12591415	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592374	1.00[ASN][1000 genomes]
rs12592573	1.00[ASN][1000 genomes]
rs12594325	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594378	0.95[ASN][1000 genomes]
rs12594600	1.00[ASN][1000 genomes]
rs12594696	1.00[ASN][1000 genomes]
rs12594699	0.95[ASN][1000 genomes]
rs12594724	1.00[ASN][1000 genomes]
rs12594725	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12594765	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12594837	0.98[ASN][1000 genomes]
rs12595722	0.83[ASN][1000 genomes]
rs16957055	0.98[ASN][1000 genomes]
rs16957061	0.98[ASN][1000 genomes]
rs16957063	1.00[ASN][1000 genomes]
rs16957109	1.00[AMR][1000 genomes]
rs16957120	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28437884	1.00[ASN][1000 genomes]
rs28508072	1.00[EUR][1000 genomes]
rs28661826	1.00[ASN][1000 genomes]
rs28680600	0.95[ASN][1000 genomes]
rs3742992	0.98[ASN][1000 genomes]
rs3742995	0.98[ASN][1000 genomes]
rs4334272	0.98[ASN][1000 genomes]
rs56046122	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58237318	0.98[ASN][1000 genomes]
rs58548142	0.93[ASN][1000 genomes]
rs60723187	0.98[ASN][1000 genomes]
rs61747153	0.98[ASN][1000 genomes]
rs7169231	1.00[ASN][1000 genomes]
rs7169238	0.85[ASN][1000 genomes]
rs73410923	0.98[ASN][1000 genomes]
rs73410927	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410931	1.00[ASN][1000 genomes]
rs73410937	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410940	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410961	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73410969	1.00[ASN][1000 genomes]
rs73410971	1.00[ASN][1000 genomes]
rs73410972	1.00[ASN][1000 genomes]
rs73410973	1.00[ASN][1000 genomes]
rs8028365	0.90[ASN][1000 genomes]
rs8028699	0.98[ASN][1000 genomes]
rs8033336	1.00[ASN][1000 genomes]
rs8036733	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528725	chr15:42755555-43104406	Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv427959	chr15:42931181-43207353	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv457122	chr15:42948862-43062548	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv569238	chr15:42948862-43062548	Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv517553	chr15:42970899-43023482	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
2	chr15:42975600-43011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:42976600-43015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:42977000-43011600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr15:42977000-43016600	Weak transcription	Hela-S3	cervix
6	chr15:42978200-43010400	Weak transcription	Thymus	Thymus
7	chr15:42978800-43012000	Weak transcription	NH-A	brain
8	chr15:42979200-43011000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:42979800-43010600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:42980400-43010400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr15:42981400-43015000	Weak transcription	HSMM	muscle
12	chr15:42981600-43011000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr15:42984000-43014800	Weak transcription	K562	blood
14	chr15:42986000-43018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:42987800-43016400	Weak transcription	Esophagus	oesophagus
16	chr15:42988000-43010200	Weak transcription	Colonic Mucosa	Colon
17	chr15:42988200-43010200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:42988400-43010600	Weak transcription	NHLF	lung
19	chr15:42989000-43010400	Weak transcription	Placenta	Placenta
20	chr15:42989000-43011800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:42989200-43010200	Weak transcription	Brain Angular Gyrus	brain
22	chr15:42989200-43010200	Weak transcription	Ovary	ovary
23	chr15:42993400-43010200	Weak transcription	Primary T cells from cord blood	blood
24	chr15:42993400-43010800	Weak transcription	Fetal Lung	lung
25	chr15:42993400-43015400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:42997200-43011000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr15:42997200-43016400	Weak transcription	Pancreas	Pancrea
28	chr15:42999800-43011800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:43000600-43011400	Weak transcription	NHEK	skin
30	chr15:43000800-43018600	Weak transcription	A549	lung
31	chr15:43001000-43014800	Weak transcription	HUVEC	blood vessel
32	chr15:43003200-43011200	Weak transcription	Fetal Heart	heart
33	chr15:43003200-43011600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:43003200-43012000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:43003400-43011000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr15:43004200-43016200	Weak transcription	Psoas Muscle	Psoas
37	chr15:43004800-43010200	Weak transcription	Gastric	stomach
38	chr15:43005800-43010200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:43006400-43011800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr15:43007000-43011400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:43007200-43026800	Strong transcription	Fetal Stomach	stomach
42	chr15:43007800-43010200	Weak transcription	HepG2	liver
43	chr15:43007800-43020800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:43008000-43014000	Strong transcription	Fetal Muscle Leg	muscle
45	chr15:43008000-43027600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr15:43008200-43013000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr15:43008200-43027600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:43008200-43027800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:43008400-43020000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr15:43008400-43020400	Strong transcription	Brain Substantia Nigra	brain

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