Variant report

Variant	rs34087163
Chromosome Location	chr1:228678384-228678385
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	chr1:228675579-228678949	K562	blood:	n/a	n/a
2	POLR2A	chr1:228678150-228678704	HCT-116	colon:	n/a	n/a
3	CEBPB	chr1:228678115-228678478	HepG2	liver:	n/a	n/a
4	RAD21	chr1:228678165-228678510	Hela-S3	cervix:	n/a	n/a
5	USF2	chr1:228678361-228678392	HepG2	liver:	n/a	chr1:228678367-228678378
6	CEBPB	chr1:228678108-228678465	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:228678202-228678401	GM12878	blood:	n/a	n/a
8	CUX1	chr1:228678221-228678538	K562	blood:	n/a	n/a
9	EP300	chr1:228678020-228678480	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr1:228678114-228678505	ECC-1	luminal epithelium:	n/a	n/a
11	MAZ	chr1:228677928-228678563	K562	blood:	n/a	chr1:228678289-228678298
12	POLR2A	chr1:228678183-228678567	HCT-116	colon:	n/a	n/a
13	MYC	chr1:228677795-228678573	K562	blood:	n/a	chr1:228678289-228678298
14	CHD2	chr1:228678314-228678452	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:228677842-228678656	Raji	blood:	n/a	n/a
16	POLR2A	chr1:228677903-228678557	K562	blood:	n/a	n/a
17	CEBPB	chr1:228677875-228678603	Hela-S3	cervix:	n/a	n/a
18	UBTF	chr1:228678166-228678411	K562	blood:	n/a	n/a
19	TBP	chr1:228678102-228678457	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:228678036-228678392	U87	brain:	n/a	n/a
21	CEBPB	chr1:228677954-228678545	K562	blood:	n/a	n/a
22	HCFC1	chr1:228678151-228678529	K562	blood:	n/a	n/a
23	CHD2	chr1:228678093-228678459	Hela-S3	cervix:	n/a	n/a
24	MAX	chr1:228678122-228678557	Hela-S3	cervix:	n/a	chr1:228678289-228678298
25	CCNT2	chr1:228677961-228678669	K562	blood:	n/a	n/a
26	MXI1	chr1:228678224-228678668	Hela-S3	cervix:	n/a	chr1:228678392-228678401
27	BHLHE40	chr1:228678049-228678705	K562	blood:	n/a	chr1:228678611-228678620 chr1:228678611-228678620 chr1:228678612-228678621 chr1:228678609-228678622 chr1:228678610-228678619
28	POLR2A	chr1:228677928-228678598	PFSK-1	brain:	n/a	n/a
29	UBTF	chr1:228678274-228678537	K562	blood:	n/a	n/a
30	ZNF384	chr1:228678357-228678467	K562	blood:	n/a	n/a
31	POLR2A	chr1:228678280-228678679	GM12878	blood:	n/a	n/a
32	SMC3	chr1:228678094-228678600	Hela-S3	cervix:	n/a	n/a
33	JUN	chr1:228678115-228678535	K562	blood:	n/a	chr1:228678292-228678303
34	ATF3	chr1:228678131-228678470	K562	blood:	n/a	n/a
35	EP300	chr1:228678004-228678634	K562	blood:	n/a	n/a
36	MAFK	chr1:228678140-228678505	K562	blood:	n/a	chr1:228678326-228678341
37	CEBPB	chr1:228678134-228678452	A549	lung:	n/a	n/a
38	PML	chr1:228677881-228678528	K562	blood:	n/a	chr1:228678248-228678256
39	NFIC	chr1:228678108-228678619	ECC-1	luminal epithelium:	n/a	n/a
40	TEAD4	chr1:228677775-228678679	K562	blood:	n/a	n/a
41	MAFK	chr1:228678205-228678464	HepG2	liver:	n/a	chr1:228678326-228678341
42	USF2	chr1:228677975-228678615	Hela-S3	cervix:	n/a	chr1:228678367-228678378
43	CEBPB	chr1:228677924-228678705	HCT-116	colon:	n/a	n/a
44	POLR2A	chr1:228677523-228678818	Hela-S3	cervix:	n/a	n/a
45	RCOR1	chr1:228677991-228678652	K562	blood:	n/a	n/a
46	MAFK	chr1:228678225-228678431	HepG2	liver:	n/a	chr1:228678326-228678341
47	TBL1XR1	chr1:228678088-228678544	K562	blood:	n/a	n/a
48	RCOR1	chr1:228678109-228678551	Hela-S3	cervix:	n/a	n/a
49	ELK1	chr1:228678272-228678476	Hela-S3	cervix:	n/a	n/a
50	RFX5	chr1:228678124-228678521	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228677727..228683972-chr1:228696742..228702359,8	K562	blood:
2	chr1:228642342..228647806-chr1:228672380..228678428,13	MCF-7	breast:
3	chr1:228677081..228680251-chr1:228681214..228683953,4	MCF-7	breast:
4	chr1:228671614..228676496-chr1:228676543..228681096,6	MCF-7	breast:
5	chr1:228643230..228649256-chr1:228671672..228678578,15	MCF-7	breast:
6	chr1:228678361..228680041-chr1:228700662..228702359,2	K562	blood:

Variant related genes	Relation type
RNF187	TF binding region
ENSG00000215811	Chromatin interaction
ENSG00000168159	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000196890	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10916309	1.00[EUR][1000 genomes]
rs10916310	1.00[EUR][1000 genomes]
rs10916312	1.00[EUR][1000 genomes]
rs10916345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804099	1.00[EUR][1000 genomes]
rs11808955	1.00[EUR][1000 genomes]
rs1188486	1.00[EUR][1000 genomes]
rs12057947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066800	1.00[EUR][1000 genomes]
rs12073379	1.00[EUR][1000 genomes]
rs12074377	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084050	1.00[EUR][1000 genomes]
rs12095133	1.00[EUR][1000 genomes]
rs12095950	1.00[EUR][1000 genomes]
rs16848604	1.00[EUR][1000 genomes]
rs16848741	1.00[EUR][1000 genomes]
rs2087120	1.00[EUR][1000 genomes]
rs473316	1.00[EUR][1000 genomes]
rs477699	1.00[EUR][1000 genomes]
rs56690462	1.00[EUR][1000 genomes]
rs56757399	1.00[EUR][1000 genomes]
rs58560450	1.00[EUR][1000 genomes]
rs58670384	1.00[EUR][1000 genomes]
rs59958468	1.00[EUR][1000 genomes]
rs61149796	1.00[EUR][1000 genomes]
rs61416971	1.00[EUR][1000 genomes]
rs6692594	1.00[EUR][1000 genomes]
rs73099694	1.00[EUR][1000 genomes]
rs73101117	1.00[EUR][1000 genomes]
rs74144509	1.00[EUR][1000 genomes]
rs7513176	1.00[EUR][1000 genomes]
rs7514849	1.00[EUR][1000 genomes]
rs827827	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv517545	chr1:228456147-228685999	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
8	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
9	nsv873279	chr1:228494790-228681195	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	esv2829948	chr1:228509427-228687948	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv549296	chr1:228585837-228720480	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228675400-228684400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:228676000-228678800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr1:228676400-228678800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:228676400-228683000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:228676400-228684800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:228676400-228685200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:228676400-228688600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:228676600-228678800	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr1:228676600-228678800	Genic enhancers	Fetal Muscle Leg	muscle
10	chr1:228676600-228680400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:228676600-228688800	Weak transcription	HUVEC	blood vessel
12	chr1:228676800-228678400	Genic enhancers	K562	blood
13	chr1:228676800-228678600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:228676800-228678600	Genic enhancers	Adipose Nuclei	Adipose
15	chr1:228676800-228678600	Genic enhancers	Brain Cingulate Gyrus	brain
16	chr1:228676800-228678600	Genic enhancers	Hela-S3	cervix
17	chr1:228676800-228678800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:228676800-228678800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:228676800-228678800	Genic enhancers	Spleen	Spleen
20	chr1:228676800-228679400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr1:228676800-228679600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:228676800-228683400	Strong transcription	NHLF	lung
23	chr1:228676800-228683600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:228676800-228685600	Strong transcription	Primary T cells from cord blood	blood
25	chr1:228676800-228686000	Strong transcription	Fetal Intestine Small	intestine
26	chr1:228676800-228688400	Weak transcription	Stomach Mucosa	stomach
27	chr1:228676800-228688600	Weak transcription	Small Intestine	intestine
28	chr1:228677000-228678400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:228677000-228678400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:228677000-228678400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
31	chr1:228677000-228678800	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr1:228677000-228678800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:228677000-228678800	Genic enhancers	Brain Inferior Temporal Lobe	brain
34	chr1:228677000-228678800	Genic enhancers	HSMMtube	muscle
35	chr1:228677000-228679000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:228677000-228679000	Strong transcription	Fetal Kidney	kidney
37	chr1:228677000-228681400	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr1:228677000-228682400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:228677000-228683800	Strong transcription	Fetal Thymus	thymus
40	chr1:228677000-228685200	Strong transcription	Fetal Lung	lung
41	chr1:228677000-228686000	Strong transcription	Fetal Stomach	stomach
42	chr1:228677200-228678400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:228677200-228678600	Genic enhancers	Colon Smooth Muscle	Colon
44	chr1:228677200-228678800	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr1:228677200-228678800	Genic enhancers	HepG2	liver
46	chr1:228677200-228679000	Strong transcription	Thymus	Thymus
47	chr1:228677200-228679600	Strong transcription	Primary B cells from cord blood	blood
48	chr1:228677200-228679800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:228677200-228683800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:228677200-228683800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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