Variant report

Variant	rs1816647
Chromosome Location	chr2:20095690-20095691
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	chr2:20073905..20076651-chr2:20094852..20097192,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10153717	0.91[CEU][hapmap];0.91[CHD][hapmap];0.93[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10165208	0.82[CHD][hapmap];0.89[JPT][hapmap]
rs10856791	0.88[ASN][1000 genomes]
rs1119094	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147119	0.80[CEU][hapmap];0.89[JPT][hapmap]
rs1191774	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1191776	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1191778	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1191803	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1191819	0.87[ASW][hapmap];0.84[CEU][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap]
rs1437862	0.88[ASN][1000 genomes]
rs1837133	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs1870922	0.89[JPT][hapmap]
rs2028206	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028207	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2118444	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2278525	0.88[ASN][1000 genomes]
rs4035118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6718556	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7574119	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7602913	0.89[JPT][hapmap];0.86[ASN][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	nsv873712	chr2:19955245-20131079	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv873713	chr2:19955245-20144372	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv455819	chr2:19987440-20095690	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv581155	chr2:19987440-20095690	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv873714	chr2:20019616-20113088	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv873715	chr2:20059323-20144372	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1816647	MIR155HG	trans	parietal	SCAN
rs1816647	LAPTM4A	cis	parietal	SCAN
rs1816647	MATN3	cis	Esophagus Muscularis	GTEx
rs1816647	WDR35	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20068800-20097200	Weak transcription	Aorta	Aorta
2	chr2:20069000-20098200	Weak transcription	Right Atrium	heart
3	chr2:20069800-20097200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:20075400-20097600	Weak transcription	Fetal Kidney	kidney
5	chr2:20076400-20097200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:20076600-20097400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:20076600-20098200	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:20076800-20095800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr2:20076800-20097200	Weak transcription	Fetal Thymus	thymus
10	chr2:20076800-20098400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:20076800-20099800	Weak transcription	Fetal Intestine Large	intestine
12	chr2:20079200-20098600	Weak transcription	Fetal Intestine Small	intestine
13	chr2:20079400-20097200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:20079800-20099000	Weak transcription	Thymus	Thymus
15	chr2:20086400-20097400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:20086600-20097400	Weak transcription	HMEC	breast
17	chr2:20086600-20099800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:20087200-20097400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:20087400-20097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:20088000-20099600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:20088400-20098200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:20089000-20097200	Weak transcription	Adipose Nuclei	Adipose
23	chr2:20089200-20097200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:20089200-20097400	Weak transcription	Brain Anterior Caudate	brain
25	chr2:20089400-20097000	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:20089400-20097200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:20089600-20097200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr2:20089600-20097400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:20089600-20097400	Weak transcription	NHEK	skin
30	chr2:20089600-20097600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:20089600-20098200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:20089800-20099800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:20090200-20097200	Weak transcription	Fetal Heart	heart
34	chr2:20090200-20097400	Weak transcription	Brain Substantia Nigra	brain
35	chr2:20090400-20096200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:20090400-20097200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:20090400-20098200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:20090600-20098200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:20090600-20098400	Weak transcription	Right Ventricle	heart
40	chr2:20091000-20098400	Weak transcription	HSMM	muscle
41	chr2:20091800-20096600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:20092000-20096600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:20092200-20096800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:20092200-20097200	Weak transcription	HUVEC	blood vessel
45	chr2:20092200-20098800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:20092400-20096800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:20092600-20095800	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr2:20092600-20097200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:20092600-20097200	Weak transcription	Primary B cells from cord blood	blood
50	chr2:20092600-20097400	Weak transcription	Monocytes-CD14+_RO01746	blood

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