Variant report

Variant	rs56009323
Chromosome Location	chr7:97847459-97847460
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr7:97847329-97847574	K562	blood:	n/a	n/a
2	GATA3	chr7:97847220-97848094	MCF-7	breast:	n/a	n/a
3	BHLHE40	chr7:97846978-97847938	K562	blood:	n/a	chr7:97847399-97847415
4	MAX	chr7:97847121-97847799	NB4	blood:	n/a	n/a
5	CCNT2	chr7:97847291-97847938	K562	blood:	n/a	n/a
6	ZBTB7A	chr7:97846925-97847742	ECC-1	luminal epithelium:	n/a	n/a
7	NR2F2	chr7:97847309-97848095	K562	blood:	n/a	n/a
8	MAX	chr7:97847081-97847489	K562	blood:	n/a	n/a
9	SPI1	chr7:97847230-97848204	GM12878	blood:	n/a	n/a
10	SPI1	chr7:97847441-97847904	GM12891	blood:	n/a	n/a
11	HMGN3	chr7:97846909-97847908	K562	blood:	n/a	chr7:97847498-97847507 chr7:97847495-97847504
12	RCOR1	chr7:97847297-97848069	K562	blood:	n/a	n/a
13	STAT5A	chr7:97847443-97848113	K562	blood:	n/a	n/a
14	USF1	chr7:97847086-97847489	ECC-1	luminal epithelium:	n/a	chr7:97847399-97847415
15	MAZ	chr7:97847047-97847829	K562	blood:	n/a	n/a
16	SPI1	chr7:97847453-97847949	HL-60	blood:	n/a	n/a
17	NR2F2	chr7:97846958-97847962	MCF-7	breast:	n/a	n/a
18	TEAD4	chr7:97847406-97848074	K562	blood:	n/a	n/a
19	GATA2	chr7:97847234-97847929	K562	blood:	n/a	n/a
20	MYC	chr7:97847123-97847968	K562	blood:	n/a	n/a
21	MAX	chr7:97847245-97847841	K562	blood:	n/a	n/a
22	RCOR1	chr7:97847328-97848079	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:97847018..97848537-chr7:97878984..97881844,2	K562	blood:
2	chr7:97846624..97850033-chr7:97850682..97852457,3	MCF-7	breast:
3	chr7:97845652..97847962-chr7:97851352..97854034,2	MCF-7	breast:
4	chr7:97840173..97842487-chr7:97845725..97848039,2	MCF-7	breast:
5	chr7:97840856..97842377-chr7:97845637..97848224,2	MCF-7	breast:

No data

Variant related genes	Relation type
TECPR1	TF binding region
ENSG00000205356	Chromatin interaction
ENSG00000180535	Chromatin interaction
ENSG00000164713	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11762014	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11762703	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11768456	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12531433	0.83[AMR][1000 genomes]
rs12540613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270603	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2279676	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3735258	0.83[AMR][1000 genomes]
rs3816943	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56153131	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59932969	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	esv1816676	chr7:97676259-97868033	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv831066	chr7:97726879-97890550	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
10	nsv1033029	chr7:97773232-98017992	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv539033	chr7:97773232-98017992	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv888760	chr7:97816327-97965016	Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv888762	chr7:97829492-97853184	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv888763	chr7:97829492-97866291	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv888765	chr7:97834386-97853184	Bivalent Enhancer Enhancers Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv1812914	chr7:97846435-97860164	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	esv1849580	chr7:97846435-97860164	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97823000-97851000	Weak transcription	HSMMtube	muscle
2	chr7:97825200-97851000	Weak transcription	Fetal Lung	lung
3	chr7:97836000-97851000	Weak transcription	NHLF	lung
4	chr7:97836800-97857200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:97839200-97851000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:97840200-97851000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:97840400-97852800	Weak transcription	Brain Angular Gyrus	brain
8	chr7:97841000-97858600	Weak transcription	Psoas Muscle	Psoas
9	chr7:97841200-97850600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:97841200-97850800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:97841200-97850800	Weak transcription	Osteobl	bone
12	chr7:97841200-97852200	Weak transcription	A549	lung
13	chr7:97841200-97867800	Weak transcription	HUVEC	blood vessel
14	chr7:97841200-97880200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:97841400-97850600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:97841400-97858600	Weak transcription	NH-A	brain
17	chr7:97841400-97866200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:97841400-97879400	Weak transcription	Fetal Brain Male	brain
19	chr7:97841400-97880200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:97841600-97851000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:97841600-97853800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:97841800-97850600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:97841800-97867400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr7:97842200-97868400	Weak transcription	Colon Smooth Muscle	Colon
25	chr7:97842600-97850600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:97843400-97850800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:97843400-97855000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:97843800-97847600	Strong transcription	Fetal Stomach	stomach
29	chr7:97843800-97857000	Weak transcription	Right Atrium	heart
30	chr7:97844400-97847600	Strong transcription	Lung	lung
31	chr7:97844400-97847600	Strong transcription	Right Ventricle	heart
32	chr7:97844600-97847800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:97844800-97847600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:97844800-97847600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:97844800-97847600	Strong transcription	Esophagus	oesophagus
36	chr7:97844800-97847600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:97845000-97847600	Strong transcription	Thymus	Thymus
38	chr7:97845200-97877400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:97845600-97847600	Strong transcription	Colonic Mucosa	Colon
40	chr7:97845800-97847800	Enhancers	Pancreas	Pancrea
41	chr7:97845800-97850800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:97845800-97851000	Weak transcription	Fetal Intestine Large	intestine
43	chr7:97846000-97847800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:97846600-97847600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:97846600-97847800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:97846600-97848000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr7:97846800-97848000	Enhancers	Primary hematopoietic stem cells	blood
48	chr7:97846800-97856400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:97847000-97847600	Genic enhancers	Primary B cells from peripheral blood	blood
50	chr7:97847000-97847600	Genic enhancers	Gastric	stomach

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