Variant report

Variant	rs2795310
Chromosome Location	chr1:220161751-220161752
allele	A/G
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	RELA	chr1:220161636-220162142	GM12878	blood:	n/a	n/a
2	NFYB	chr1:220161698-220161941	GM12878	blood:	n/a	n/a
3	NRF1	chr1:220161577-220161860	GM12878	blood:	n/a	n/a
4	EBF1	chr1:220161685-220162043	GM12878	blood:	n/a	n/a
5	EP300	chr1:220161543-220162139	GM12878	blood:	n/a	n/a
6	TBP	chr1:220161283-220162009	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:220161313-220168073	K562	blood:	n/a	n/a
8	ATF2	chr1:220161520-220162244	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr1:220161686-220162113	GM12878	blood:	n/a	n/a
10	ZNF143	chr1:220161746-220162061	GM12878	blood:	n/a	n/a
11	BCLAF1	chr1:220161550-220162282	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:220153591..220159773-chr1:220159981..220165102,9	K562	blood:
2	chr1:220161264..220163445-chr1:220234115..220237098,2	K562	blood:

Variant related genes	Relation type
EPRS	TF binding region
ENSG00000238798	TF binding region
ENSG00000136628	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10442684	0.85[EUR][1000 genomes]
rs10746395	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10746396	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10779395	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10779396	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12141971	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12142009	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1566252	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1611961	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1612144	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1614384	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1614585	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1614719	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1622508	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1658226	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1658227	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1694576	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1694599	0.86[EUR][1000 genomes]
rs1694600	0.86[EUR][1000 genomes]
rs1768665	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1768667	0.96[EUR][1000 genomes]
rs1768669	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1768670	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1768671	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1768674	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1768676	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1768677	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1874810	0.85[EUR][1000 genomes]
rs2230301	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2245457	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2248466	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2248479	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2248717	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2248719	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577138	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577139	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2577140	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577141	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577142	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577144	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577145	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577146	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577147	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2577148	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577149	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577150	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577151	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2577156	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577158	0.85[EUR][1000 genomes]
rs2577159	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577160	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2577163	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2577165	0.94[EUR][1000 genomes]
rs2647420	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647421	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2647422	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647423	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647424	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647426	0.86[EUR][1000 genomes]
rs2647427	0.93[EUR][1000 genomes]
rs2647428	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647429	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647430	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647431	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2647432	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2647433	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2647434	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2647438	0.86[EUR][1000 genomes]
rs2647441	0.83[EUR][1000 genomes]
rs2647445	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647446	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647447	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647448	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647449	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647451	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2647452	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2647454	0.96[EUR][1000 genomes]
rs2647455	0.96[EUR][1000 genomes]
rs2647456	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2647457	0.88[EUR][1000 genomes]
rs2647462	0.86[EUR][1000 genomes]
rs2647467	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2647469	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2647470	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2647478	0.93[EUR][1000 genomes]
rs2647479	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789793	0.87[EUR][1000 genomes]
rs2789794	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789800	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789802	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789803	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2789806	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2789807	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789808	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2789809	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789810	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2789811	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2789812	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789813	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789815	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789816	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789817	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2789819	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2795314	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2795315	0.85[EUR][1000 genomes]
rs6541120	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6681055	0.84[EUR][1000 genomes]
rs6681471	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6681474	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6697041	0.83[AFR][1000 genomes]
rs6703042	0.90[EUR][1000 genomes]
rs7537058	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7545314	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7548397	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7550249	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv1798515	chr1:220157811-220167371	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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	chr1:220140600-220162400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:220140600-220162400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:220140600-220163000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:220140800-220161800	Strong transcription	Fetal Thymus	thymus
7	chr1:220140800-220162400	Strong transcription	Fetal Intestine Large	intestine
8	chr1:220140800-220162400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:220140800-220163200	Strong transcription	Primary T cells from cord blood	blood
10	chr1:220140800-220164000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:220140800-220173400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:220140800-220192400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:220141000-220163000	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:220141000-220163200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:220141000-220163400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:220141200-220162000	Strong transcription	Adipose Nuclei	Adipose
17	chr1:220141200-220162800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr1:220141200-220163200	Strong transcription	HSMM	muscle
19	chr1:220141200-220192200	Weak transcription	Fetal Kidney	kidney
20	chr1:220141400-220161800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:220141400-220162000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:220141400-220162200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr1:220141400-220162200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:220141400-220163400	Strong transcription	Dnd41	blood
25	chr1:220141400-220165400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:220141600-220162000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:220141600-220162200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:220142200-220164000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:220142600-220169400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:220145800-220162000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:220146400-220182800	Weak transcription	Spleen	Spleen
32	chr1:220147200-220169400	Weak transcription	Fetal Heart	heart
33	chr1:220147800-220163400	Strong transcription	K562	blood
34	chr1:220148200-220162200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:220148400-220162400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:220148600-220161800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:220148600-220162000	Strong transcription	Osteobl	bone
38	chr1:220148600-220162200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:220149000-220167400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:220149200-220163400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:220149400-220162200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:220149400-220178200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:220149600-220166800	Weak transcription	Stomach Mucosa	stomach
44	chr1:220151200-220162200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:220151600-220162200	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:220151800-220162000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:220153600-220169200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:220154200-220169200	Weak transcription	Fetal Brain Male	brain
49	chr1:220154400-220169200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:220154400-220169200	Weak transcription	Fetal Lung	lung

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