Variant report

Variant	rs2211327
Chromosome Location	chr1:224618498-224618499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr1:224618177-224618618	GM12878	blood:	n/a	n/a
2	MAFF	chr1:224618247-224618814	K562	blood:	n/a	n/a
3	ELF1	chr1:224618191-224618593	K562	blood:	n/a	n/a
4	SIN3AK20	chr1:224618262-224618532	A549	lung:	n/a	n/a
5	MAZ	chr1:224618246-224618662	K562	blood:	n/a	n/a
6	EP300	chr1:224618247-224618712	GM12878	blood:	n/a	n/a
7	MXI1	chr1:224618142-224618665	GM12878	blood:	n/a	n/a
8	NFIC	chr1:224618074-224619050	SK-N-SH	brain:	n/a	n/a
9	FOS	chr1:224618199-224618867	MCF10A-Er-Src	breast:	n/a	chr1:224618394-224618405
10	SIN3AK20	chr1:224618224-224618782	SK-N-SH	brain:	n/a	n/a
11	MAFK	chr1:224618136-224618758	K562	blood:	n/a	n/a
12	SIN3AK20	chr1:224618265-224618558	PFSK-1	brain:	n/a	n/a
13	NFATC1	chr1:224618213-224618586	GM12878	blood:	n/a	n/a
14	PBX3	chr1:224618202-224618834	SK-N-SH	brain:	n/a	n/a
15	ELF1	chr1:224618088-224618622	SK-N-SH	brain:	n/a	n/a
16	JUN	chr1:224618156-224618573	K562	blood:	n/a	n/a
17	BCLAF1	chr1:224618169-224618669	GM12878	blood:	n/a	n/a
18	SIN3AK20	chr1:224618232-224618538	PFSK-1	brain:	n/a	n/a
19	GATA3	chr1:224618094-224618975	SK-N-SH	brain:	n/a	n/a
20	ARID3A	chr1:224618223-224618880	K562	blood:	n/a	n/a
21	FOS	chr1:224618257-224618741	MCF10A-Er-Src	breast:	n/a	chr1:224618394-224618405
22	SPI1	chr1:224618175-224618580	HL-60	blood:	n/a	n/a
23	EP300	chr1:224618266-224618761	SK-N-SH_RA	brain:	n/a	n/a
24	FOS	chr1:224618233-224618549	MCF10A-Er-Src	breast:	n/a	chr1:224618394-224618405
25	POLR2A	chr1:224618267-224618734	U87	brain:	n/a	n/a
26	JUND	chr1:224618214-224618760	K562	blood:	n/a	n/a
27	POLR2A	chr1:224618141-224618830	K562	blood:	n/a	n/a
28	ATF2	chr1:224618211-224618596	GM12878	blood:	n/a	n/a
29	ZNF384	chr1:224618250-224618793	K562	blood:	n/a	n/a
30	EP300	chr1:224618282-224618773	SK-N-SH_RA	brain:	n/a	n/a
31	ZMIZ1	chr1:224618321-224618559	K562	blood:	n/a	n/a
32	FOS	chr1:224618232-224618748	MCF10A-Er-Src	breast:	n/a	chr1:224618394-224618405
33	HCFC1	chr1:224618295-224618652	K562	blood:	n/a	n/a
34	ARID3A	chr1:224618196-224618854	HepG2	liver:	n/a	n/a
35	MAFF	chr1:224618361-224618539	HepG2	liver:	n/a	n/a
36	FOXA1	chr1:224618286-224618600	HepG2	liver:	n/a	n/a
37	STAT3	chr1:224618312-224618766	MCF10A-Er-Src	breast:	n/a	n/a
38	BATF	chr1:224618241-224618506	GM12878	blood:	n/a	n/a
39	FOS	chr1:224618196-224618621	HUVEC	blood vessel:	n/a	chr1:224618394-224618405
40	MAZ	chr1:224618192-224618507	GM12878	blood:	n/a	n/a
41	CHD2	chr1:224618347-224618775	K562	blood:	n/a	n/a
42	FOSL2	chr1:224618091-224618892	SK-N-SH	brain:	n/a	n/a
43	ETS1	chr1:224618243-224618564	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:224618244-224618746	HUVEC	blood vessel:	n/a	n/a
45	TBL1XR1	chr1:224618090-224618766	K562	blood:	n/a	n/a
46	KAP1	chr1:224618190-224618605	K562	blood:	n/a	n/a
47	FOSL2	chr1:224618102-224618635	A549	lung:	n/a	n/a
48	EP300	chr1:224618160-224618851	K562	blood:	n/a	n/a
49	NR2F2	chr1:224617985-224618798	K562	blood:	n/a	n/a
50	CUX1	chr1:224618216-224618788	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224615619..224618582-chr1:224673125..224674786,2	K562	blood:
2	chr1:224369742..224372382-chr1:224618245..224620019,2	MCF-7	breast:
3	chr1:224617651..224619446-chr1:224625035..224626931,2	MCF-7	breast:
4	chr1:224031722..224035110-chr1:224617781..224620783,3	K562	blood:
5	chr1:224543781..224546462-chr1:224616960..224621011,5	K562	blood:

No data

Variant related genes	Relation type
CNIH3	TF binding region
ENSG00000143771	Chromatin interaction
ENSG00000143753	Chromatin interaction
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10495218	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495221	0.86[AMR][1000 genomes]
rs11800357	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11804538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809710	0.82[YRI][hapmap];0.86[AMR][1000 genomes]
rs11810160	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11812007	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1317205	0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847867	0.82[YRI][hapmap]
rs16848356	0.93[AMR][1000 genomes]
rs16848382	0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs58243680	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59734390	0.86[AMR][1000 genomes]
rs59804672	0.85[AMR][1000 genomes]
rs60063902	0.86[AMR][1000 genomes]
rs60349703	0.86[AMR][1000 genomes]
rs61590597	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687735	0.85[AMR][1000 genomes]
rs73125526	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs73125533	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125540	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125543	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1013149	chr1:224605943-224646382	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535312	chr1:224605943-224646382	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:224608400-224620800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:224612000-224619400	Weak transcription	Stomach Mucosa	stomach
4	chr1:224612200-224619200	Weak transcription	Brain Germinal Matrix	brain
5	chr1:224612400-224619200	Weak transcription	Right Ventricle	heart
6	chr1:224612400-224620000	Weak transcription	Ovary	ovary
7	chr1:224612400-224620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:224612400-224620400	Weak transcription	Esophagus	oesophagus
9	chr1:224612400-224620400	Weak transcription	Pancreas	Pancrea
10	chr1:224612400-224620600	Weak transcription	Spleen	Spleen
11	chr1:224613000-224618600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:224613000-224620400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:224613000-224620400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:224613200-224618600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:224613800-224618600	Weak transcription	Fetal Brain Female	brain
16	chr1:224616000-224618600	Weak transcription	Brain Angular Gyrus	brain
17	chr1:224616600-224618600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:224616800-224620200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:224616800-224620800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:224617000-224619200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:224617000-224619200	Weak transcription	Left Ventricle	heart
22	chr1:224617000-224619400	Weak transcription	Fetal Stomach	stomach
23	chr1:224617000-224620400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:224617000-224620400	Weak transcription	Gastric	stomach
25	chr1:224617000-224620400	Weak transcription	Lung	lung
26	chr1:224617200-224619400	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:224617200-224620200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:224617400-224618600	Enhancers	Liver	Liver
29	chr1:224617400-224619400	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr1:224617400-224619400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:224617400-224619400	Genic enhancers	Fetal Kidney	kidney
32	chr1:224617600-224618600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:224617600-224618800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:224617600-224619000	Weak transcription	Placenta	Placenta
35	chr1:224617600-224619000	Genic enhancers	HSMMtube	muscle
36	chr1:224617600-224619200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:224617600-224619200	Enhancers	Colon Smooth Muscle	Colon
38	chr1:224617600-224619400	Enhancers	Adipose Nuclei	Adipose
39	chr1:224617600-224619400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:224617600-224619400	Transcr. at gene 5' and 3'	NH-A	brain
41	chr1:224617600-224620000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:224617600-224621000	Transcr. at gene 5' and 3'	K562	blood
43	chr1:224617600-224621200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:224617800-224618600	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr1:224617800-224618800	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr1:224617800-224619000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:224617800-224619200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:224617800-224619200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:224617800-224619200	Enhancers	Rectal Smooth Muscle	rectum
50	chr1:224617800-224621000	Flanking Active TSS	HUVEC	blood vessel

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