Variant report

Variant	rs2247445
Chromosome Location	chr7:100427263-100427264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100426855-100427374	HUVEC	blood vessel:	n/a	n/a
2	RCOR1	chr7:100426390-100427293	K562	blood:	n/a	n/a
3	POLR2A	chr7:100426835-100427377	K562	blood:	n/a	n/a
4	FOS	chr7:100426900-100427305	HUVEC	blood vessel:	n/a	n/a
5	ETS1	chr7:100426866-100427265	K562	blood:	n/a	chr7:100427136-100427149
6	TEAD4	chr7:100426800-100427381	K562	blood:	n/a	n/a
7	REST	chr7:100426819-100427322	K562	blood:	n/a	n/a
8	GATA1	chr7:100426733-100427495	K562	blood:	n/a	chr7:100427058-100427075
9	GATA2	chr7:100426862-100427263	K562	blood:	n/a	chr7:100427058-100427075
10	HMGN3	chr7:100426882-100427269	K562	blood:	n/a	n/a
11	EP300	chr7:100426255-100427347	K562	blood:	n/a	chr7:100426286-100426295
12	TEAD4	chr7:100426743-100427382	K562	blood:	n/a	n/a
13	MAZ	chr7:100426896-100427289	K562	blood:	n/a	n/a
14	POLR2A	chr7:100426827-100427287	K562	blood:	n/a	n/a
15	TAL1	chr7:100426776-100427322	K562	blood:	n/a	chr7:100427057-100427075
16	GATA2	chr7:100426796-100427308	K562	blood:	n/a	chr7:100427058-100427075
17	CCNT2	chr7:100426897-100427297	K562	blood:	n/a	n/a
18	STAT5A	chr7:100426762-100427277	K562	blood:	n/a	chr7:100427218-100427230 chr7:100427087-100427099
19	POLR2A	chr7:100426806-100427415	HUVEC	blood vessel:	n/a	n/a
20	UBTF	chr7:100426762-100427345	K562	blood:	n/a	n/a
21	GATA2	chr7:100426867-100427352	HUVEC	blood vessel:	n/a	chr7:100427058-100427075
22	POLR2A	chr7:100426810-100427326	K562	blood:	n/a	n/a
23	CEBPD	chr7:100426765-100427347	K562	blood:	n/a	n/a
24	PML	chr7:100426783-100427332	K562	blood:	n/a	n/a
25	ELF1	chr7:100426882-100427354	K562	blood:	n/a	n/a
26	HDAC2	chr7:100426814-100427312	K562	blood:	n/a	n/a
27	POLR2A	chr7:100426817-100427374	HUVEC	blood vessel:	n/a	n/a
28	STAT5A	chr7:100426827-100427267	K562	blood:	n/a	chr7:100427218-100427230 chr7:100427087-100427099
29	REST	chr7:100426839-100427275	K562	blood:	n/a	n/a
30	ETS1	chr7:100426904-100427281	K562	blood:	n/a	chr7:100427136-100427149
31	UBTF	chr7:100426860-100427264	K562	blood:	n/a	n/a
32	GATA1	chr7:100426844-100427314	PBDE	blood:	n/a	chr7:100427058-100427075
33	POLR2A	chr7:100426739-100427389	HUVEC	blood vessel:	n/a	n/a
34	ELF1	chr7:100426835-100427269	K562	blood:	n/a	n/a
35	MYC	chr7:100426865-100427271	K562	blood:	n/a	n/a
36	IRF1	chr7:100426882-100427269	K562	blood:	n/a	n/a
37	MAX	chr7:100426756-100427282	K562	blood:	n/a	n/a
38	TRIM28	chr7:100426714-100427286	K562	blood:	n/a	n/a
39	GABPA	chr7:100426838-100427328	K562	blood:	n/a	n/a
40	POLR2A	chr7:100422235-100427552	HUVEC	blood vessel:	n/a	n/a
41	CBX3	chr7:100426677-100427396	K562	blood:	n/a	n/a
42	NR2F2	chr7:100426773-100427511	K562	blood:	n/a	n/a
43	POLR2A	chr7:100423682-100427339	K562	blood:	n/a	n/a
44	ZBTB7A	chr7:100426833-100427289	K562	blood:	n/a	n/a
45	POLR2A	chr7:100426872-100427317	K562	blood:	n/a	n/a
46	ZBTB7A	chr7:100426818-100427338	K562	blood:	n/a	n/a
47	TBL1XR1	chr7:100426833-100427342	K562	blood:	n/a	n/a
48	GATA2	chr7:100426810-100427317	K562	blood:	n/a	chr7:100427058-100427075
49	THAP1	chr7:100426853-100427313	K562	blood:	n/a	n/a
50	RCOR1	chr7:100426297-100427266	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100425445..100427592-chr7:100461568..100464406,2	MCF-7	breast:
2	chr7:100427087..100431759-chr7:100432300..100436126,8	K562	blood:
3	chr7:100425740..100428117-chr7:100484984..100487072,2	K562	blood:
4	chr7:100427050..100428595-chr7:100433038..100435319,2	MCF-7	breast:
5	chr7:100425738..100428117-chr7:100484984..100487781,2	K562	blood:
6	chr7:100423559..100425818-chr7:100426663..100428171,2	MCF-7	breast:
7	chr7:100301669..100305063-chr7:100423516..100428632,6	MCF-7	breast:

No data

Variant related genes	Relation type
EPHB4	TF binding region
ENSG00000087087	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000172336	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12531740	0.94[ASN][1000 genomes]
rs12537212	0.95[ASN][1000 genomes]
rs12670773	0.91[ASN][1000 genomes]
rs144173	0.85[JPT][hapmap]
rs17147741	0.81[CHB][hapmap]
rs2230585	0.80[JPT][hapmap]
rs2247447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250818	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293766	0.81[CHB][hapmap]
rs2553020	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2553022	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2571606	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571607	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2571608	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2571609	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2720396	0.93[EUR][1000 genomes]
rs314310	0.85[JPT][hapmap]
rs314319	0.88[ASN][1000 genomes]
rs314320	0.83[CHD][hapmap];0.95[JPT][hapmap]
rs3847061	0.82[ASN][1000 genomes]
rs3857809	0.96[ASN][1000 genomes]
rs3890144	0.95[CHB][hapmap];0.98[CHD][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs60224425	0.89[ASN][1000 genomes]
rs60291880	0.88[ASN][1000 genomes]
rs73413159	0.91[ASN][1000 genomes]
rs7785074	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
11	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
12	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv888800	chr7:100411278-100436446	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
15	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
16	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	nsv831073	chr7:100425659-100544888	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100423600-100427400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:100425600-100427400	Enhancers	Lung	lung
3	chr7:100426000-100427400	Enhancers	Pancreas	Pancrea
4	chr7:100426000-100429000	Enhancers	Liver	Liver
5	chr7:100426000-100429400	Weak transcription	A549	lung
6	chr7:100426000-100429800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:100426200-100427400	Enhancers	Fetal Heart	heart
8	chr7:100426400-100427400	Flanking Active TSS	K562	blood
9	chr7:100426400-100429400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:100426400-100433400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:100426400-100433400	Weak transcription	Gastric	stomach
12	chr7:100426400-100433800	Weak transcription	Right Atrium	heart
13	chr7:100426600-100427400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:100426600-100427400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:100426600-100427400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:100426600-100427400	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:100426600-100427400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr7:100426600-100427400	Enhancers	Left Ventricle	heart
19	chr7:100426600-100427600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:100426600-100428400	Enhancers	HUVEC	blood vessel
21	chr7:100426600-100431600	Weak transcription	Spleen	Spleen
22	chr7:100426600-100433400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:100426600-100433400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:100426600-100433400	Weak transcription	Fetal Kidney	kidney
25	chr7:100426800-100428200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:100427000-100427400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr7:100427000-100427400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:100427000-100428600	Weak transcription	Fetal Intestine Large	intestine
29	chr7:100427000-100433200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:100427000-100433400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr7:100427000-100433400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:100427200-100427400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:100427200-100427400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr7:100427200-100427400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:100427200-100427400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:100427200-100427400	Enhancers	Duodenum Mucosa	Duodenum
37	chr7:100427200-100427400	Enhancers	Fetal Intestine Small	intestine
38	chr7:100427200-100427600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:100427200-100429200	Enhancers	HepG2	liver
40	chr7:100427200-100431800	Weak transcription	Right Ventricle	heart
41	chr7:100427200-100433400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:100427200-100433400	Weak transcription	Fetal Stomach	stomach
43	chr7:100427200-100433400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:100427200-100434600	Weak transcription	Ovary	ovary

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