Variant report

Variant	rs4150476
Chromosome Location	chr2:128032822-128032823
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128030778..128035283-chr2:128048851..128054589,4	K562	blood:
2	chr2:128031590..128034572-chr2:128037070..128039442,3	MCF-7	breast:
3	chr2:128032489..128035732-chr2:128036718..128040797,5	K562	blood:
4	chr2:128027705..128030035-chr2:128032248..128034567,3	K562	blood:

Variant related genes	Relation type
ENSG00000163161	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1011019	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10496661	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10850	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11541137	0.83[AFR][1000 genomes]
rs11680877	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11680949	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11691916	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11692990	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12105051	0.84[EUR][1000 genomes]
rs1504135	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2404534	0.81[EUR][1000 genomes]
rs2896979	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3732209	0.83[EUR][1000 genomes]
rs3958415	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4150402	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4150404	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4150421	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4150471	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150474	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150499	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4662713	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4662718	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4662719	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4662720	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59378658	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61422716	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62157508	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6430933	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6430936	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6731332	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6733478	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6738690	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6744237	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6757492	0.84[EUR][1000 genomes]
rs72845975	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72845976	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72845991	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72845993	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72845997	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72846002	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72848604	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72848615	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72848616	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72848618	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7556675	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7556756	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7562428	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7590030	0.83[EUR][1000 genomes]
rs7607907	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4150476	ERCC3	cis	Thyroid	GTEx
rs4150476	ERCC3	cis	Adipose Subcutaneous	GTEx
rs4150476	ERCC3	cis	Nerve Tibial	GTEx
rs4150476	ERCC3	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128013600-128036200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:128014000-128041000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:128014600-128041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:128021200-128050000	Strong transcription	Fetal Stomach	stomach
5	chr2:128023200-128036200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:128023200-128041000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr2:128023400-128050400	Strong transcription	Liver	Liver
8	chr2:128023800-128039400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:128024000-128040800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:128024200-128036200	Strong transcription	Placenta	Placenta
11	chr2:128024200-128036200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:128024200-128038200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:128024200-128040800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:128024200-128050600	Strong transcription	Fetal Intestine Large	intestine
15	chr2:128024400-128036200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:128024400-128038400	Strong transcription	Ovary	ovary
17	chr2:128024400-128040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:128024400-128041000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:128024400-128041000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:128024400-128041000	Strong transcription	Fetal Muscle Leg	muscle
21	chr2:128024400-128049600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:128024400-128049800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr2:128024400-128050000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:128024400-128050200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:128024400-128050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:128024400-128050200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:128024400-128050400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:128024400-128050400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:128024400-128050400	Strong transcription	Thymus	Thymus
30	chr2:128024400-128050800	Strong transcription	Fetal Thymus	thymus
31	chr2:128024600-128033600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:128024600-128033600	Strong transcription	Colon Smooth Muscle	Colon
33	chr2:128024600-128034000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr2:128024600-128036200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:128024600-128038200	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:128024600-128038600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:128024600-128039800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:128024600-128040400	Strong transcription	NH-A	brain
39	chr2:128024600-128040800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr2:128024600-128040800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:128024600-128040800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:128024600-128041000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:128024600-128041000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:128024600-128041000	Strong transcription	Fetal Brain Female	brain
45	chr2:128024600-128041000	Strong transcription	A549	lung
46	chr2:128024600-128041200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:128024600-128049200	Strong transcription	Dnd41	blood
48	chr2:128024600-128049600	Strong transcription	Primary T cells from cord blood	blood
49	chr2:128024600-128050000	Strong transcription	HepG2	liver
50	chr2:128024600-128050200	Strong transcription	Primary B cells from peripheral blood	blood

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