Variant report

Variant	rs61825156
Chromosome Location	chr1:228298266-228298267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr1:228297863-228298271	SH-SY5Y	brain:	n/a	n/a
2	ARID3A	chr1:228297885-228298280	HepG2	liver:	n/a	n/a
3	IRF3	chr1:228298215-228298268	GM12878	blood:	n/a	n/a
4	MAFF	chr1:228298152-228298352	K562	blood:	n/a	n/a
5	POLR2A	chr1:228296779-228298489	HepG2	liver:	n/a	n/a
6	CEBPB	chr1:228297779-228298324	HepG2	liver:	n/a	n/a
7	BCL3	chr1:228297558-228298588	GM12878	blood:	n/a	n/a
8	MAZ	chr1:228296843-228298267	HepG2	liver:	n/a	chr1:228297140-228297150
9	TEAD4	chr1:228297686-228298362	HepG2	liver:	n/a	n/a
10	HEY1	chr1:228298129-228298386	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:228295080-228298357	HepG2	liver:	n/a	n/a
12	MXI1	chr1:228296698-228298281	HepG2	liver:	n/a	n/a
13	MXI1	chr1:228296467-228298433	SK-N-SH	brain:	n/a	n/a
14	MYBL2	chr1:228297848-228298468	HepG2	liver:	n/a	n/a
15	TEAD4	chr1:228297720-228298302	K562	blood:	n/a	n/a
16	HEY1	chr1:228297780-228298268	HepG2	liver:	n/a	n/a
17	FOXA2	chr1:228297865-228298302	HepG2	liver:	n/a	n/a
18	FOXA1	chr1:228297749-228298340	HepG2	liver:	n/a	n/a
19	TBL1XR1	chr1:228298030-228298365	K562	blood:	n/a	n/a
20	CREB1	chr1:228296457-228298326	HepG2	liver:	n/a	n/a
21	JUN	chr1:228296050-228298705	K562	blood:	n/a	n/a
22	POLR2A	chr1:228297788-228298280	K562	blood:	n/a	n/a
23	POLR2A	chr1:228295848-228298694	HepG2	liver:	n/a	n/a
24	JUND	chr1:228297824-228298447	K562	blood:	n/a	n/a
25	POLR2A	chr1:228295973-228298532	K562	blood:	n/a	n/a
26	RCOR1	chr1:228297950-228298559	K562	blood:	n/a	n/a
27	MAFF	chr1:228297929-228298324	HepG2	liver:	n/a	n/a
28	STAT3	chr1:228298178-228298267	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr1:228296558-228298293	GM12892	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228297992..228299811-chr1:228608670..228610850,2	K562	blood:
2	chr1:228297957..228299984-chr1:228304841..228307293,2	K562	blood:
3	chr1:228295318..228298683-chr1:228360322..228363984,4	K562	blood:
4	chr1:228266682..228273620-chr1:228293839..228298603,9	MCF-7	breast:
5	chr1:228193720..228196616-chr1:228296879..228298469,2	MCF-7	breast:
6	chr1:228293945..228298846-chr1:228325398..228330582,13	K562	blood:
7	chr1:228294705..228298588-chr1:228325821..228329680,6	MCF-7	breast:
8	chr1:228295286..228298610-chr1:228351640..228355026,4	K562	blood:
9	chr1:228294689..228298417-chr1:228352364..228354856,6	MCF-7	breast:
10	chr1:228288384..228298705-chr1:228351640..228357240,26	K562	blood:
11	chr1:228295585..228298584-chr1:228645620..228647778,2	K562	blood:
12	chr1:228293945..228298682-chr1:228326047..228331152,9	K562	blood:
13	chr1:228295585..228298429-chr1:228645232..228648455,3	K562	blood:
14	chr1:228282584..228285424-chr1:228297065..228299503,2	MCF-7	breast:

No data

Variant related genes	Relation type
MRPL55	TF binding region
ENSG00000143774	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000264944	Chromatin interaction
ENSG00000154342	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000203684	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10127705	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1048503	0.86[ASN][1000 genomes]
rs10495278	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10495279	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10916266	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1094602	1.00[EUR][1000 genomes]
rs1094603	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11577976	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11580599	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11581169	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11582369	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11584499	0.82[ASN][1000 genomes]
rs12033088	0.82[ASN][1000 genomes]
rs12034268	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12039801	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1745422	0.85[ASN][1000 genomes]
rs1771486	0.85[EUR][1000 genomes]
rs1803695	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2070960	0.86[ASN][1000 genomes]
rs28587961	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34687764	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3738680	0.84[ASN][1000 genomes]
rs3738681	0.86[ASN][1000 genomes]
rs3795773	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3795774	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3820624	0.86[ASN][1000 genomes]
rs41270175	0.85[ASN][1000 genomes]
rs41303083	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4653906	0.90[EUR][1000 genomes]
rs4653908	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4653909	0.90[EUR][1000 genomes]
rs4653914	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61825131	0.85[ASN][1000 genomes]
rs61825133	0.85[ASN][1000 genomes]
rs61825135	0.84[ASN][1000 genomes]
rs61825157	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61825159	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61827462	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6663726	0.90[EUR][1000 genomes]
rs6668719	0.90[EUR][1000 genomes]
rs7530253	1.00[EUR][1000 genomes]
rs7537552	0.90[EUR][1000 genomes]
rs9287011	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9970544	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
6	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
9	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
10	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer 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	133 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228296600-228298400	Active TSS	Brain Angular Gyrus	brain
2	chr1:228296600-228298400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:228296600-228298400	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr1:228296600-228298600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:228297400-228298400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:228297400-228298400	Flanking Active TSS	Fetal Brain Female	brain
7	chr1:228297600-228298400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:228297600-228298400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:228297600-228298400	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr1:228297600-228298400	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr1:228297600-228298400	Flanking Active TSS	Colon Smooth Muscle	Colon
12	chr1:228297600-228298800	Flanking Active TSS	K562	blood
13	chr1:228297800-228298400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:228297800-228298400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:228297800-228298400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:228297800-228298400	Active TSS	Brain Germinal Matrix	brain
17	chr1:228297800-228298400	Flanking Active TSS	Fetal Intestine Small	intestine
18	chr1:228297800-228298400	Enhancers	Fetal Lung	lung
19	chr1:228297800-228298800	Enhancers	Stomach Mucosa	stomach
20	chr1:228298000-228298400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:228298000-228298400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:228298000-228298400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:228298000-228298400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr1:228298000-228298400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:228298000-228298400	Enhancers	Fetal Stomach	stomach
26	chr1:228298000-228298400	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr1:228298000-228298400	Active TSS	Thymus	Thymus
28	chr1:228298000-228298600	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr1:228298000-228298600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr1:228298000-228298600	Flanking Active TSS	HSMM	muscle
31	chr1:228298000-228298600	Enhancers	HUVEC	blood vessel
32	chr1:228298000-228301000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:228298000-228301400	Weak transcription	Primary T cells from cord blood	blood
34	chr1:228298200-228298400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:228298200-228298400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:228298200-228298400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:228298200-228298400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:228298200-228298400	Enhancers	Brain Substantia Nigra	brain
39	chr1:228298200-228298400	Enhancers	Stomach Smooth Muscle	stomach
40	chr1:228298200-228298400	Enhancers	Dnd41	blood
41	chr1:228298200-228298400	Enhancers	Hela-S3	cervix
42	chr1:228298200-228298400	Enhancers	HMEC	breast
43	chr1:228298200-228298400	Flanking Active TSS	HSMMtube	muscle
44	chr1:228298200-228298400	Enhancers	NHEK	skin
45	chr1:228298200-228298400	Enhancers	NHLF	lung
46	chr1:228298200-228298600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr1:228298200-228298600	Enhancers	Fetal Kidney	kidney
48	chr1:228298200-228298600	Enhancers	Pancreas	Pancrea
49	chr1:228298200-228298600	Flanking Active TSS	HepG2	liver
50	chr1:228298200-228298800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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