Variant report

Variant	rs6467464
Chromosome Location	chr7:80550308-80550309
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr7:80550102-80551058	A549	lung:	n/a	n/a
2	NR2F2	chr7:80550256-80550844	MCF-7	breast:	n/a	n/a
3	TEAD4	chr7:80550294-80550918	MCF-7	breast:	n/a	n/a
4	GATA3	chr7:80549952-80551160	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:80550223-80551046	PANC-1	pancreas:	n/a	n/a
6	EP300	chr7:80550215-80550938	MCF-7	breast:	n/a	n/a
7	EP300	chr7:80550259-80550896	A549	lung:	n/a	n/a
8	GATA3	chr7:80550089-80551016	MCF-7	breast:	n/a	n/a
9	SP1	chr7:80550304-80550838	A549	lung:	n/a	n/a
10	FOXM1	chr7:80550192-80550942	MCF-7	breast:	n/a	n/a
11	ESR1	chr7:80550240-80550850	T-47D	breast:	n/a	n/a
12	JUND	chr7:80550247-80550988	MCF-7	breast:	n/a	chr7:80550271-80550283
13	ESR1	chr7:80550305-80550861	T-47D	breast:	n/a	n/a
14	NR2F2	chr7:80550169-80550950	MCF-7	breast:	n/a	n/a
15	EP300	chr7:80550139-80550861	A549	lung:	n/a	n/a
16	MAX	chr7:80550287-80550951	MCF-7	breast:	n/a	n/a
17	EP300	chr7:80550197-80550923	T-47D	breast:	n/a	n/a
18	FOXM1	chr7:80550080-80551012	MCF-7	breast:	n/a	n/a
19	FOXA1	chr7:80550257-80550784	T-47D	breast:	n/a	n/a
20	POLR2A	chr7:80547193-80551247	PANC-1	pancreas:	n/a	n/a
21	TCF7L2	chr7:80550130-80550943	PANC-1	pancreas:	n/a	n/a
22	TCF12	chr7:80550156-80550959	A549	lung:	n/a	n/a
23	POLR2A	chr7:80542371-80551951	MCF-7	breast:	n/a	n/a
24	FOSL2	chr7:80550231-80550868	MCF-7	breast:	n/a	chr7:80550271-80550283
25	FOSL2	chr7:80550231-80550945	MCF-7	breast:	n/a	chr7:80550271-80550283
26	RAD21	chr7:80547381-80551152	SK-N-SH	brain:	n/a	chr7:80548620-80548634 chr7:80549631-80549650
27	HDAC2	chr7:80550226-80550947	MCF-7	breast:	n/a	chr7:80550592-80550601
28	SP1	chr7:80550244-80550930	A549	lung:	n/a	n/a
29	GATA3	chr7:80550306-80550862	T-47D	breast:	n/a	n/a
30	GATA3	chr7:80550281-80550877	T-47D	breast:	n/a	n/a
31	CEBPB	chr7:80550210-80551049	MCF-7	breast:	n/a	chr7:80550776-80550789 chr7:80550544-80550557
32	SIN3AK20	chr7:80547324-80551268	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:80547597-80550795	A549	lung:	n/a	chr7:80549632-80549653 chr7:80549630-80549648 chr7:80547725-80547732 chr7:80548621-80548634
34	JUND	chr7:80550155-80550917	T-47D	breast:	n/a	chr7:80550271-80550283
35	CEBPB	chr7:80550271-80550903	MCF-7	breast:	n/a	chr7:80550776-80550789 chr7:80550544-80550557
36	TEAD4	chr7:80550304-80550893	MCF-7	breast:	n/a	n/a
37	FOXA1	chr7:80550295-80550767	T-47D	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:80506016..80506631-chr7:80549904..80550579,2	MCF-7	breast:
2	chr7:80548775..80550728-chr7:80725629..80727229,2	MCF-7	breast:
3	chr7:80453386..80455160-chr7:80549437..80551338,2	MCF-7	breast:
4	chr7:80548784..80550699-chr7:80652671..80654608,2	MCF-7	breast:
5	chr7:80548724..80552228-chr7:81092186..81095551,3	MCF-7	breast:
6	chr7:80549184..80550786-chr7:80865135..80867870,2	MCF-7	breast:
7	chr5:90677371..90680085-chr7:80548730..80550389,2	MCF-7	breast:
8	chr7:80546356..80552735-chr7:80798673..80805379,14	MCF-7	breast:
9	chr7:80546517..80551479-chr7:80801945..80805775,5	MCF-7	breast:
10	chr7:80548873..80550374-chr7:80829934..80832081,2	MCF-7	breast:
11	chr6:27837988..27840286-chr7:80547684..80550334,2	MCF-7	breast:
12	chr7:80547567..80550681-chr7:81058746..81062625,3	MCF-7	breast:
13	chr17:65030555..65033441-chr7:80548839..80551076,2	MCF-7	breast:
14	chr7:80550231..80550880-chr7:80571740..80572600,3	MCF-7	breast:
15	chr7:80550299..80550947-chr7:80572664..80573300,2	MCF-7	breast:
16	chr7:80546955..80550718-chr7:80817331..80823169,5	MCF-7	breast:
17	chr7:80549638..80551457-chr7:81096415..81098240,2	MCF-7	breast:
18	chr7:80548728..80550741-chr7:80899992..80902009,2	MCF-7	breast:
19	chr1:149857039..149859334-chr7:80548386..80551320,2	MCF-7	breast:
20	chr7:80549186..80551426-chr7:81023686..81025197,2	MCF-7	breast:
21	chr7:80549472..80551455-chr7:80599232..80601743,2	MCF-7	breast:
22	chr7:80549150..80551514-chr7:80899704..80901338,2	MCF-7	breast:

No data

Variant related genes	Relation type
SEMA3C	TF binding region
ENSG00000226671	Chromatin interaction
ENSG00000237896	Chromatin interaction
ENSG00000232968	Chromatin interaction
ENSG00000182572	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000224134	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2190239	0.82[ASN][1000 genomes]
rs6969340	0.83[ASN][1000 genomes]
rs6970479	0.83[ASN][1000 genomes]
rs6976815	0.86[ASN][1000 genomes]
rs6978489	0.84[ASN][1000 genomes]
rs723581	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
3	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80548400-80552600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:80548400-80570000	Weak transcription	Gastric	stomach
3	chr7:80548800-80550400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:80548800-80550600	Weak transcription	Small Intestine	intestine
5	chr7:80548800-80552600	Weak transcription	Fetal Heart	heart
6	chr7:80549000-80550400	Weak transcription	Fetal Lung	lung
7	chr7:80549200-80550600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:80549200-80551000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:80549200-80551000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:80549200-80551400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:80549200-80552400	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:80549200-80565000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:80549400-80550600	Flanking Active TSS	A549	lung
14	chr7:80549400-80550600	Weak transcription	Hela-S3	cervix
15	chr7:80549400-80550800	Weak transcription	Osteobl	bone
16	chr7:80549400-80551000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:80549400-80552400	Weak transcription	Fetal Kidney	kidney
18	chr7:80549400-80552600	Weak transcription	Psoas Muscle	Psoas
19	chr7:80549400-80553600	Weak transcription	Colonic Mucosa	Colon
20	chr7:80549400-80554400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr7:80549600-80550600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:80549600-80550600	Weak transcription	NH-A	brain
23	chr7:80549600-80550600	Enhancers	NHEK	skin
24	chr7:80549600-80551000	Enhancers	Duodenum Mucosa	Duodenum
25	chr7:80549600-80551000	Enhancers	HMEC	breast
26	chr7:80549600-80551800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:80549600-80552000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:80549600-80553600	Enhancers	Fetal Intestine Large	intestine
29	chr7:80549600-80553800	Enhancers	Fetal Intestine Small	intestine
30	chr7:80549600-80554000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr7:80549800-80550800	Weak transcription	Adipose Nuclei	Adipose
32	chr7:80549800-80551000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:80549800-80551600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:80549800-80552400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:80549800-80553800	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:80550000-80550600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:80550000-80551800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:80550200-80550400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:80550200-80550800	Enhancers	NHDF-Ad	bronchial
40	chr7:80550200-80553800	Enhancers	Stomach Mucosa	stomach

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