Variant report

Variant	rs9944270
Chromosome Location	chr15:42962209-42962210
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	chr15:42960672..42962590-chr15:42963179..42966511,3	K562	blood:
2	chr15:42957477..42963934-chr15:42964860..42973083,9	K562	blood:

Variant related genes	Relation type
ENSG00000159433	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12323990	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12324135	0.87[EUR][1000 genomes]
rs12592374	1.00[EUR][1000 genomes]
rs12592573	1.00[EUR][1000 genomes]
rs12594378	1.00[EUR][1000 genomes]
rs12594600	1.00[EUR][1000 genomes]
rs12594696	1.00[EUR][1000 genomes]
rs12594699	1.00[EUR][1000 genomes]
rs12594724	1.00[EUR][1000 genomes]
rs12594725	1.00[EUR][1000 genomes]
rs12594765	1.00[EUR][1000 genomes]
rs12594858	0.93[ASN][1000 genomes]
rs16957031	0.82[AFR][1000 genomes]
rs16957037	0.81[AFR][1000 genomes]
rs16957043	0.87[EUR][1000 genomes]
rs16957055	1.00[EUR][1000 genomes]
rs16957061	1.00[EUR][1000 genomes]
rs16957063	1.00[EUR][1000 genomes]
rs16957120	1.00[EUR][1000 genomes]
rs1915242	0.87[EUR][1000 genomes]
rs1915243	0.87[EUR][1000 genomes]
rs28437884	1.00[EUR][1000 genomes]
rs28508072	0.96[ASN][1000 genomes]
rs28537072	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28680600	1.00[EUR][1000 genomes]
rs28699522	0.87[EUR][1000 genomes]
rs28736688	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742992	1.00[EUR][1000 genomes]
rs3742995	1.00[EUR][1000 genomes]
rs4334272	1.00[EUR][1000 genomes]
rs56839966	0.87[EUR][1000 genomes]
rs58237318	1.00[EUR][1000 genomes]
rs58548142	1.00[EUR][1000 genomes]
rs60723187	1.00[EUR][1000 genomes]
rs7169231	0.86[EUR][1000 genomes]
rs7178483	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73408611	0.87[EUR][1000 genomes]
rs73408619	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73410923	1.00[EUR][1000 genomes]
rs73410927	1.00[EUR][1000 genomes]
rs73410931	1.00[EUR][1000 genomes]
rs73410937	1.00[EUR][1000 genomes]
rs73410961	1.00[EUR][1000 genomes]
rs73410969	1.00[EUR][1000 genomes]
rs73410971	1.00[EUR][1000 genomes]
rs73410972	1.00[EUR][1000 genomes]
rs73410973	1.00[EUR][1000 genomes]
rs73410981	0.87[EUR][1000 genomes]
rs8023743	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8028365	1.00[EUR][1000 genomes]
rs8028699	1.00[EUR][1000 genomes]
rs8033336	1.00[EUR][1000 genomes]
rs8036733	0.87[EUR][1000 genomes]
rs8039881	0.81[ASN][1000 genomes]
rs8043143	1.00[EUR][1000 genomes];0.96[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	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42898000-42967800	Weak transcription	Fetal Intestine Small	intestine
2	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
3	chr15:42909600-42966400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:42925200-42966000	Weak transcription	NH-A	brain
5	chr15:42925200-42966800	Weak transcription	NHLF	lung
6	chr15:42928200-42973600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr15:42928200-42974000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:42930600-42964000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr15:42931200-42963400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:42931800-42968000	Weak transcription	HSMM	muscle
11	chr15:42932200-42966200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr15:42940400-42967800	Weak transcription	HepG2	liver
13	chr15:42942800-42967200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr15:42942800-42973600	Weak transcription	Psoas Muscle	Psoas
15	chr15:42945200-42973400	Weak transcription	Thymus	Thymus
16	chr15:42947000-42964400	Weak transcription	Spleen	Spleen
17	chr15:42949800-42999200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr15:42950000-42969400	Weak transcription	K562	blood
19	chr15:42950200-42963200	Weak transcription	Fetal Heart	heart
20	chr15:42950400-42990200	Strong transcription	Fetal Stomach	stomach
21	chr15:42951000-42995000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr15:42952200-42973400	Weak transcription	Gastric	stomach
23	chr15:42952400-42970800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr15:42952600-42979000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr15:42952600-42995600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:42952800-42967000	Weak transcription	Right Ventricle	heart
27	chr15:42952800-42996000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:42953200-42970000	Strong transcription	Adipose Nuclei	Adipose
29	chr15:42953200-42970200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr15:42953400-42992200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:42953600-42963000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:42953600-42963000	Weak transcription	NHEK	skin
33	chr15:42953600-42967800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:42954000-42970000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:42954200-42973600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr15:42954400-42976200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr15:42954600-42986200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr15:42954800-42962800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:42954800-42983000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:42955000-42964400	Weak transcription	Colonic Mucosa	Colon
41	chr15:42955000-42967000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:42955000-42990200	Strong transcription	Fetal Muscle Leg	muscle
43	chr15:42955200-42974000	Weak transcription	Esophagus	oesophagus
44	chr15:42956000-42967600	Weak transcription	Fetal Lung	lung
45	chr15:42956000-42976400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:42956200-42966400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:42956400-42964000	Weak transcription	Brain Germinal Matrix	brain
48	chr15:42956800-42964600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:42956800-42973600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:42957000-42976200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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