Variant report

Variant	rs1982985
Chromosome Location	chr1:220145637-220145638
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:220145349-220147798	K562	blood:	n/a	n/a
2	CCNT2	chr1:220145567-220145750	K562	blood:	n/a	n/a
3	MYC	chr1:220145626-220145842	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220139066..220142338-chr1:220143870..220147751,4	K562	blood:
2	chr1:220144163..220148221-chr1:220163054..220166012,3	K562	blood:

Variant related genes	Relation type
EPRS	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2647464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220129200-220145800	Weak transcription	HepG2	liver
2	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:220137200-220145800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:220139400-220146000	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:220139400-220154000	Weak transcription	Fetal Lung	lung
6	chr1:220140000-220146000	Weak transcription	Psoas Muscle	Psoas
7	chr1:220140000-220167400	Weak transcription	Gastric	stomach
8	chr1:220140200-220151800	Weak transcription	NHLF	lung
9	chr1:220140200-220157600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:220140200-220160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:220140400-220146000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:220140400-220154200	Weak transcription	Esophagus	oesophagus
13	chr1:220140600-220146000	Weak transcription	Brain Angular Gyrus	brain
14	chr1:220140600-220146200	Weak transcription	Spleen	Spleen
15	chr1:220140600-220162400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:220140600-220162400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:220140600-220163000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:220140800-220146800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:220140800-220146800	Weak transcription	Fetal Heart	heart
20	chr1:220140800-220147000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:220140800-220150000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:220140800-220150800	Strong transcription	Left Ventricle	heart
23	chr1:220140800-220161800	Strong transcription	Fetal Thymus	thymus
24	chr1:220140800-220162400	Strong transcription	Fetal Intestine Large	intestine
25	chr1:220140800-220162400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr1:220140800-220163200	Strong transcription	Primary T cells from cord blood	blood
27	chr1:220140800-220164000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:220140800-220173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:220141000-220146400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:220141000-220146600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:220141000-220146800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:220141000-220146800	Strong transcription	Liver	Liver
34	chr1:220141000-220147200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:220141000-220149800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:220141000-220158000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr1:220141000-220163000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:220141000-220163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:220141000-220163400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:220141200-220147000	Strong transcription	NH-A	brain
41	chr1:220141200-220152000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:220141200-220158200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr1:220141200-220162000	Strong transcription	Adipose Nuclei	Adipose
44	chr1:220141200-220162800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:220141200-220163200	Strong transcription	HSMM	muscle
46	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
47	chr1:220141400-220146600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:220141400-220146800	Strong transcription	Brain Cingulate Gyrus	brain
49	chr1:220141400-220150000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:220141400-220161800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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