Variant report

Variant	rs2647463
Chromosome Location	chr1:220155228-220155229
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	chr1:220140733..220143631-chr1:220153944..220155522,2	K562	blood:
2	chr1:220153591..220159773-chr1:220159981..220165102,9	K562	blood:

Variant related genes	Relation type
ENSG00000238798	Chromatin interaction
ENSG00000136628	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1061160	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498393	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1624678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1694577	0.84[AFR][1000 genomes]
rs1694601	0.85[LWK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs1768668	0.85[LWK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs2254494	0.82[LWK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs2486328	0.80[AFR][1000 genomes]
rs2647435	0.86[AFR][1000 genomes]
rs2647436	0.81[LWK][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes]
rs2647437	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2647460	0.87[AFR][1000 genomes]
rs2647464	0.81[ASN][1000 genomes]
rs2789796	0.85[LWK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs2789798	0.86[AFR][1000 genomes]
rs2789799	0.86[AFR][1000 genomes]
rs2795312	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
3	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2647463	EPRS	cis	lymphoblastoid	seeQTL
rs2647463	EPRS	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:220140000-220167400	Weak transcription	Gastric	stomach
3	chr1:220140200-220157600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:220140200-220160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:220140600-220162400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:220140600-220162400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:220140600-220163000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:220140800-220161800	Strong transcription	Fetal Thymus	thymus
9	chr1:220140800-220162400	Strong transcription	Fetal Intestine Large	intestine
10	chr1:220140800-220162400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr1:220140800-220163200	Strong transcription	Primary T cells from cord blood	blood
12	chr1:220140800-220164000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:220140800-220173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:220141000-220158000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:220141000-220163000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:220141000-220163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:220141000-220163400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:220141200-220158200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr1:220141200-220162000	Strong transcription	Adipose Nuclei	Adipose
21	chr1:220141200-220162800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:220141200-220163200	Strong transcription	HSMM	muscle
23	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
24	chr1:220141400-220161800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:220141400-220162000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:220141400-220162200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr1:220141400-220162200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:220141400-220163400	Strong transcription	Dnd41	blood
29	chr1:220141400-220165400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:220141600-220158000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:220141600-220162000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:220141600-220162200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:220141800-220157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:220142200-220164000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:220142600-220169400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:220144400-220157200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr1:220145800-220162000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:220146400-220182800	Weak transcription	Spleen	Spleen
39	chr1:220146600-220157800	Weak transcription	Right Ventricle	heart
40	chr1:220146600-220158800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:220146600-220160400	Weak transcription	Psoas Muscle	Psoas
42	chr1:220146800-220156600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:220147200-220156400	Weak transcription	Brain Angular Gyrus	brain
44	chr1:220147200-220169400	Weak transcription	Fetal Heart	heart
45	chr1:220147800-220163400	Strong transcription	K562	blood
46	chr1:220148200-220162200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:220148400-220162400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:220148600-220161800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:220148600-220162000	Strong transcription	Osteobl	bone
50	chr1:220148600-220162200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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