Variant report

Variant	rs4662716
Chromosome Location	chr2:128010807-128010808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128010619..128012715-chr2:128050121..128052564,2	K562	blood:
2	chr2:128009689..128011867-chr2:128022033..128024920,2	K562	blood:

Variant related genes	Relation type
ENSG00000163161	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12105051	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1504135	0.81[EUR][1000 genomes]
rs2404534	0.90[EUR][1000 genomes]
rs3732209	0.86[EUR][1000 genomes]
rs4662713	0.81[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	0.81[EUR][1000 genomes]
rs6744237	0.81[EUR][1000 genomes]
rs6757492	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72845979	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72845982	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7590030	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1011378	chr2:127841930-128020546	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
rs4662716	ERCC3	cis	Esophagus Muscularis	GTEx
rs4662716	ERCC3	cis	Nerve Tibial	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127984600-128012800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:127989400-128013000	Weak transcription	Pancreas	Pancrea
3	chr2:127996400-128013400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:127996400-128013400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:127999200-128012200	Weak transcription	Liver	Liver
6	chr2:128000000-128013400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:128000400-128013400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:128001400-128012000	Weak transcription	A549	lung
9	chr2:128002400-128015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:128002800-128014000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:128003000-128016400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:128003400-128014000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:128003600-128013000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:128003600-128013400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:128004000-128012400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:128004000-128012600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:128004000-128012800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:128004000-128012800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:128004000-128013000	Weak transcription	Dnd41	blood
20	chr2:128004000-128013400	Weak transcription	Thymus	Thymus
21	chr2:128004200-128012000	Weak transcription	Osteobl	bone
22	chr2:128004200-128014000	Weak transcription	Fetal Lung	lung
23	chr2:128004400-128013000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:128004400-128013400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:128004400-128014200	Weak transcription	Primary B cells from cord blood	blood
26	chr2:128004600-128013400	Weak transcription	Placenta	Placenta
27	chr2:128004800-128014000	Weak transcription	Fetal Thymus	thymus
28	chr2:128005000-128014400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:128005000-128016400	Weak transcription	Fetal Kidney	kidney
30	chr2:128005200-128013400	Weak transcription	Spleen	Spleen
31	chr2:128005200-128014000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:128005400-128013400	Weak transcription	Esophagus	oesophagus
33	chr2:128005400-128016200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:128005600-128012200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr2:128005600-128013200	Weak transcription	Ovary	ovary
36	chr2:128006000-128013400	Weak transcription	Fetal Stomach	stomach
37	chr2:128006200-128013000	Weak transcription	Primary T cells from cord blood	blood
38	chr2:128007200-128013000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:128007200-128013400	Weak transcription	Right Ventricle	heart
40	chr2:128007600-128015800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:128007800-128013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:128008000-128012200	Weak transcription	Brain Substantia Nigra	brain
43	chr2:128008000-128012800	Weak transcription	NH-A	brain
44	chr2:128008400-128012000	Weak transcription	HSMM	muscle
45	chr2:128008400-128013400	Weak transcription	Aorta	Aorta
46	chr2:128010000-128012000	Weak transcription	HMEC	breast
47	chr2:128010000-128014000	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:128010200-128013400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:128010600-128012800	Weak transcription	GM12878-XiMat	blood
50	chr2:128010600-128014400	Weak transcription	Primary B cells from peripheral blood	blood

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