Variant report

Variant	rs2404534
Chromosome Location	chr2:128025749-128025750
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128023731..128026474-chr2:128028520..128030504,2	K562	blood:
2	chr2:128023647..128026274-chr2:128041250..128043477,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1011019	0.80[EUR][1000 genomes]
rs11679414	0.81[AFR][1000 genomes]
rs12105051	0.93[EUR][1000 genomes]
rs1504135	0.81[EUR][1000 genomes]
rs3732209	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4150404	0.82[ASN][1000 genomes]
rs4150421	0.81[EUR][1000 genomes]
rs4150471	0.81[EUR][1000 genomes]
rs4150474	0.81[EUR][1000 genomes]
rs4150476	0.81[EUR][1000 genomes]
rs4150499	0.83[EUR][1000 genomes]
rs4662713	0.81[EUR][1000 genomes]
rs4662716	0.90[EUR][1000 genomes]
rs4662718	0.82[EUR][1000 genomes]
rs6430933	0.81[EUR][1000 genomes]
rs6430936	0.81[EUR][1000 genomes]
rs6731332	0.81[EUR][1000 genomes]
rs6733478	0.81[EUR][1000 genomes]
rs6738690	0.80[EUR][1000 genomes]
rs6744237	0.81[EUR][1000 genomes]
rs6757492	0.93[EUR][1000 genomes]
rs72845979	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72845982	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7590030	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[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	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	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
5	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2404534	ERCC3	cis	Esophagus Muscularis	GTEx
rs2404534	ERCC3	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128012400-128028000	Weak transcription	Hela-S3	cervix
2	chr2:128012600-128026200	Weak transcription	Stomach Mucosa	stomach
3	chr2:128013600-128036200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:128014000-128041000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:128014600-128041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:128016200-128027800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:128017200-128027400	Weak transcription	Esophagus	oesophagus
8	chr2:128017600-128026400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:128017600-128027800	Weak transcription	Small Intestine	intestine
10	chr2:128018800-128025800	Weak transcription	Spleen	Spleen
11	chr2:128019000-128025800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr2:128019000-128025800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:128019000-128025800	Weak transcription	Psoas Muscle	Psoas
14	chr2:128019000-128026200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:128019000-128026200	Weak transcription	NHEK	skin
16	chr2:128019000-128027400	Weak transcription	Fetal Brain Male	brain
17	chr2:128019000-128027400	Weak transcription	Pancreas	Pancrea
18	chr2:128019000-128027600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:128019000-128028200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:128019000-128028200	Weak transcription	NHLF	lung
21	chr2:128019200-128026000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:128019200-128026200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:128019400-128027800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:128019400-128028000	Weak transcription	K562	blood
25	chr2:128019800-128025800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr2:128019800-128026200	Weak transcription	Fetal Heart	heart
27	chr2:128020000-128025800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:128020000-128025800	Weak transcription	Lung	lung
29	chr2:128020200-128028000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:128021200-128050000	Strong transcription	Fetal Stomach	stomach
31	chr2:128022200-128028200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:128023200-128027200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:128023200-128036200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr2:128023200-128041000	Strong transcription	Fetal Muscle Trunk	muscle
35	chr2:128023400-128050400	Strong transcription	Liver	Liver
36	chr2:128023800-128039400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:128024000-128040800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:128024200-128032800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:128024200-128036200	Strong transcription	Placenta	Placenta
40	chr2:128024200-128036200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:128024200-128038200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:128024200-128040800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:128024200-128050600	Strong transcription	Fetal Intestine Large	intestine
44	chr2:128024400-128027000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:128024400-128032600	Strong transcription	HSMMtube	muscle
46	chr2:128024400-128036200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:128024400-128038400	Strong transcription	Ovary	ovary
48	chr2:128024400-128040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:128024400-128041000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:128024400-128041000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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