Variant report

Variant	rs80220736
Chromosome Location	chr7:100549245-100549246
allele	C/G
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	TEAD4	chr7:100548768-100549296	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr7:100548871-100549449	H1-hESC	embryonic stem cell:	n/a	n/a
3	SP1	chr7:100548799-100549346	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr7:100548745-100549316	H1-hESC	embryonic stem cell:	n/a	chr7:100548977-100548987
5	SP4	chr7:100548841-100549274	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr7:100548864-100549412	H1-hESC	embryonic stem cell:	n/a	n/a
7	RAD21	chr7:100548798-100549252	H1-hESC	embryonic stem cell:	n/a	chr7:100548974-100548984
8	ATF2	chr7:100548761-100549286	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr7:100548881-100549345	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr7:100548697-100549782	H1-hESC	embryonic stem cell:	n/a	chr7:100548974-100548984
11	BACH1	chr7:100548883-100549254	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr7:100548845-100549347	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTBP2	chr7:100548802-100549986	H1-hESC	embryonic stem cell:	n/a	n/a
14	TCF12	chr7:100548756-100549292	H1-hESC	embryonic stem cell:	n/a	n/a
15	GTF2F1	chr7:100548879-100549253	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr7:100548882-100549443	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZNF143	chr7:100548821-100549526	H1-hESC	embryonic stem cell:	n/a	chr7:100549046-100549064
18	EP300	chr7:100548765-100549329	H1-hESC	embryonic stem cell:	n/a	chr7:100549003-100549017 chr7:100549001-100549015
19	SP1	chr7:100548798-100549321	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr7:100548775-100549355	H1-hESC	embryonic stem cell:	n/a	chr7:100548977-100548987
21	ZNF263	chr7:100548941-100549505	HEK293-T-REx	kidney:	n/a	chr7:100549068-100549089 chr7:100549114-100549135
22	TBP	chr7:100548789-100549278	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100547706..100549637-chr7:100613917..100615692,2	MCF-7	breast:

Variant related genes	Relation type
MUC3A	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv427795	chr7:100525848-100554827	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv437026	chr7:100533822-100610772	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv511361	chr7:100548960-100553306	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv16826	chr7:100548984-100553179	ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100544800-100550600	Weak transcription	Right Atrium	heart
2	chr7:100546600-100549600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:100546600-100549800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:100546800-100549600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:100546800-100549800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:100547200-100549800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:100547200-100550600	Weak transcription	Gastric	stomach
8	chr7:100547800-100549600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:100547800-100549600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:100547800-100549600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr7:100547800-100549600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr7:100547800-100549600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:100548000-100549600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr7:100548200-100549800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:100548400-100549400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:100548400-100550600	Weak transcription	Liver	Liver
17	chr7:100548400-100550600	Weak transcription	Colonic Mucosa	Colon
18	chr7:100548400-100550600	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr7:100548600-100549600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:100548600-100549600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
21	chr7:100548600-100550000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:100548600-100550600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:100548600-100550600	Weak transcription	Fetal Intestine Large	intestine
24	chr7:100548600-100550600	Weak transcription	Fetal Thymus	thymus
25	chr7:100549000-100549400	Enhancers	Spleen	Spleen
26	chr7:100549200-100549400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:100549200-100549400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine

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