Variant report

Variant	rs2795315
Chromosome Location	chr1:220145371-220145372
allele	A/C
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

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: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10746395	0.82[EUR][1000 genomes]
rs10779395	0.82[EUR][1000 genomes]
rs10779396	0.82[EUR][1000 genomes]
rs1566252	0.82[EUR][1000 genomes]
rs1611961	0.82[EUR][1000 genomes]
rs1612144	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1614384	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1614585	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1614719	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1622508	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1658226	0.82[EUR][1000 genomes]
rs1658227	0.82[EUR][1000 genomes]
rs1694576	0.82[EUR][1000 genomes]
rs1694599	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1694600	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1768665	0.82[EUR][1000 genomes]
rs1768667	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1768669	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1768670	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1768671	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1768676	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1768677	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1874810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2230301	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2245457	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2248466	0.82[EUR][1000 genomes]
rs2248479	0.82[EUR][1000 genomes]
rs2248717	0.82[EUR][1000 genomes]
rs2248719	0.82[EUR][1000 genomes]
rs2577138	0.82[EUR][1000 genomes]
rs2577139	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2577140	0.82[EUR][1000 genomes]
rs2577141	0.82[EUR][1000 genomes]
rs2577142	0.82[EUR][1000 genomes]
rs2577144	0.82[EUR][1000 genomes]
rs2577145	0.82[EUR][1000 genomes]
rs2577146	0.82[EUR][1000 genomes]
rs2577147	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2577148	0.82[EUR][1000 genomes]
rs2577149	0.82[EUR][1000 genomes]
rs2577150	0.82[EUR][1000 genomes]
rs2577156	0.82[EUR][1000 genomes]
rs2577159	0.82[EUR][1000 genomes]
rs2577160	0.82[EUR][1000 genomes]
rs2577165	0.90[AFR][1000 genomes]
rs2647420	0.82[EUR][1000 genomes]
rs2647421	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2647422	0.82[EUR][1000 genomes]
rs2647423	0.82[EUR][1000 genomes]
rs2647424	0.82[EUR][1000 genomes]
rs2647428	0.82[EUR][1000 genomes]
rs2647429	0.82[EUR][1000 genomes]
rs2647430	0.82[EUR][1000 genomes]
rs2647431	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2647433	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2647434	0.85[EUR][1000 genomes]
rs2647438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2647439	0.82[EUR][1000 genomes]
rs2647441	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2647445	0.82[EUR][1000 genomes]
rs2647446	0.82[EUR][1000 genomes]
rs2647447	0.82[EUR][1000 genomes]
rs2647448	0.82[EUR][1000 genomes]
rs2647449	0.82[EUR][1000 genomes]
rs2647451	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2647452	0.82[EUR][1000 genomes]
rs2647454	0.82[EUR][1000 genomes]
rs2647455	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2647456	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2647462	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2647467	0.82[EUR][1000 genomes]
rs2647469	0.81[EUR][1000 genomes]
rs2647470	0.82[EUR][1000 genomes]
rs2647479	0.85[EUR][1000 genomes]
rs2789794	0.85[EUR][1000 genomes]
rs2789797	0.85[EUR][1000 genomes]
rs2789800	0.82[EUR][1000 genomes]
rs2789802	0.82[EUR][1000 genomes]
rs2789806	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2789807	0.82[EUR][1000 genomes]
rs2789808	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2789809	0.82[EUR][1000 genomes]
rs2789810	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2789811	0.81[EUR][1000 genomes]
rs2789812	0.82[EUR][1000 genomes]
rs2789813	0.82[EUR][1000 genomes]
rs2789815	0.82[EUR][1000 genomes]
rs2789816	0.82[EUR][1000 genomes]
rs2789817	0.82[EUR][1000 genomes]
rs2789818	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2789819	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2795310	0.85[EUR][1000 genomes]
rs2795314	0.82[EUR][1000 genomes]
rs6541120	0.82[EUR][1000 genomes]
rs6681474	0.81[EUR][1000 genomes]
rs7545314	0.82[EUR][1000 genomes]
rs7548397	0.81[EUR][1000 genomes]
rs7550249	0.82[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

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	chr1:220139200-220145400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:220139400-220146000	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:220139400-220154000	Weak transcription	Fetal Lung	lung
7	chr1:220140000-220146000	Weak transcription	Psoas Muscle	Psoas
8	chr1:220140000-220167400	Weak transcription	Gastric	stomach
9	chr1:220140200-220151800	Weak transcription	NHLF	lung
10	chr1:220140200-220157600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:220140200-220160000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:220140400-220146000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:220140400-220154200	Weak transcription	Esophagus	oesophagus
14	chr1:220140600-220146000	Weak transcription	Brain Angular Gyrus	brain
15	chr1:220140600-220146200	Weak transcription	Spleen	Spleen
16	chr1:220140600-220162400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:220140600-220162400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:220140600-220163000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:220140800-220146800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:220140800-220146800	Weak transcription	Fetal Heart	heart
21	chr1:220140800-220147000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:220140800-220150000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:220140800-220150800	Strong transcription	Left Ventricle	heart
24	chr1:220140800-220161800	Strong transcription	Fetal Thymus	thymus
25	chr1:220140800-220162400	Strong transcription	Fetal Intestine Large	intestine
26	chr1:220140800-220162400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr1:220140800-220163200	Strong transcription	Primary T cells from cord blood	blood
28	chr1:220140800-220164000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:220140800-220173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:220141000-220146400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:220141000-220146600	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:220141000-220146800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:220141000-220146800	Strong transcription	Liver	Liver
35	chr1:220141000-220147200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:220141000-220149800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:220141000-220158000	Strong transcription	Primary B cells from peripheral blood	blood
38	chr1:220141000-220163000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:220141000-220163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:220141000-220163400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:220141200-220147000	Strong transcription	NH-A	brain
42	chr1:220141200-220152000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:220141200-220158200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:220141200-220162000	Strong transcription	Adipose Nuclei	Adipose
45	chr1:220141200-220162800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr1:220141200-220163200	Strong transcription	HSMM	muscle
47	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
48	chr1:220141400-220146600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr1:220141400-220146800	Strong transcription	Brain Cingulate Gyrus	brain
50	chr1:220141400-220150000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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