Variant report

Variant	rs546694927
Chromosome Location	chr9:71788119-71788120
allele	C/T
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	GATA3	chr9:71788068-71789581	SK-N-SH	brain:	n/a	chr9:71788355-71788367 chr9:71788358-71788368 chr9:71788356-71788366
2	MYC	chr9:71787939-71788455	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr9:71787896-71788192	K562	blood:	n/a	n/a
4	GATA2	chr9:71788056-71788827	SH-SY5Y	brain:	n/a	chr9:71788355-71788367 chr9:71788358-71788368 chr9:71788356-71788366
5	POLR2A	chr9:71787068-71792412	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr9:71787873-71788119	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr9:71787790-71792027	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr9:71787712-71788197	MCF10A-Er-Src	breast:	n/a	chr9:71788027-71788035
9	STAT3	chr9:71787689-71788463	MCF10A-Er-Src	breast:	n/a	chr9:71788027-71788035
10	CEBPB	chr9:71787881-71788199	HepG2	liver:	n/a	n/a
11	MYC	chr9:71787814-71788208	MCF10A-Er-Src	breast:	n/a	chr9:71787840-71787849
12	RCOR1	chr9:71788033-71788149	K562	blood:	n/a	n/a
13	POLR2A	chr9:71788005-71791473	IMR90	lung:	n/a	n/a
14	CEBPD	chr9:71787904-71788120	HepG2	liver:	n/a	n/a
15	FOS	chr9:71787821-71788200	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr9:71787635-71788318	MCF10A-Er-Src	breast:	n/a	chr9:71788027-71788035
17	E2F4	chr9:71788054-71788438	MCF10A-Er-Src	breast:	n/a	n/a
18	NFIC	chr9:71788056-71789015	SK-N-SH	brain:	n/a	chr9:71788437-71788453 chr9:71788436-71788453
19	MXI1	chr9:71787907-71790914	SK-N-SH	brain:	n/a	n/a
20	CEBPB	chr9:71787924-71788209	Hela-S3	cervix:	n/a	n/a
21	STAT3	chr9:71787711-71788341	MCF10A-Er-Src	breast:	n/a	chr9:71788027-71788035
22	FOS	chr9:71787894-71788182	MCF10A-Er-Src	breast:	n/a	n/a
23	CEBPB	chr9:71787873-71788207	IMR90	lung:	n/a	n/a
24	STAT3	chr9:71787954-71788154	MCF10A-Er-Src	breast:	n/a	chr9:71788027-71788035

No.	Distal block	Cell Line	Cell type
1	chr9:71733168..71738729-chr9:71786929..71793777,10	MCF-7	breast:
2	chr9:71734142..71739001-chr9:71788032..71795507,11	MCF-7	breast:
3	chr9:71780838..71784047-chr9:71785849..71788919,3	MCF-7	breast:

Variant related genes	Relation type
TJP2	TF binding region
ENSG00000119139	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1051798	chr9:71511805-71792032	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
14	nsv466397	chr9:71574757-71843023	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv614550	chr9:71574757-71843023	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv1050692	chr9:71578494-71843023	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv893416	chr9:71597840-71888601	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
18	nsv1040539	chr9:71600042-71844108	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv540149	chr9:71600042-71844108	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv949664	chr9:71607398-71842391	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv948708	chr9:71632265-71842391	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv1037787	chr9:71635338-71807648	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv540151	chr9:71635338-71807648	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	nsv817209	chr9:71675454-71829412	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
26	nsv508550	chr9:71679166-71809433	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
27	nsv893427	chr9:71762766-71858517	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	esv3374178	chr9:71787757-71790305	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71752000-71788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:71755600-71788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:71765000-71788600	Weak transcription	Gastric	stomach
4	chr9:71770600-71788600	Weak transcription	Esophagus	oesophagus
5	chr9:71770800-71788400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:71770800-71788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr9:71777400-71788400	Weak transcription	Right Atrium	heart
8	chr9:71779600-71788600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr9:71781400-71788600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:71783800-71788200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:71783800-71788400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:71784000-71788200	Weak transcription	Fetal Lung	lung
13	chr9:71784000-71788400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:71784200-71788400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr9:71784200-71788400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr9:71784400-71788200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:71785800-71788600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:71786000-71788200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:71786000-71788400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:71786000-71788400	Enhancers	Liver	Liver
21	chr9:71786400-71788200	Enhancers	HepG2	liver
22	chr9:71786400-71788400	Enhancers	K562	blood
23	chr9:71786400-71788600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr9:71786600-71788200	Weak transcription	Stomach Mucosa	stomach
25	chr9:71786600-71788200	Enhancers	HUVEC	blood vessel
26	chr9:71786600-71788200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr9:71786600-71788400	Enhancers	HMEC	breast
28	chr9:71787200-71788200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:71787200-71788200	Enhancers	NHLF	lung
30	chr9:71787200-71788600	Enhancers	Fetal Intestine Large	intestine
31	chr9:71787600-71788600	Enhancers	Placenta	Placenta
32	chr9:71787800-71788200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
33	chr9:71787800-71788200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
34	chr9:71787800-71788200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
35	chr9:71787800-71788200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:71787800-71788200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:71787800-71788200	Enhancers	Fetal Heart	heart
38	chr9:71787800-71788200	Active TSS	Rectal Smooth Muscle	rectum
39	chr9:71787800-71788400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:71787800-71788400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:71787800-71788400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:71787800-71788400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:71787800-71788400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr9:71787800-71788400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:71787800-71788400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:71787800-71788400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr9:71787800-71788400	Enhancers	Fetal Stomach	stomach
48	chr9:71787800-71788400	Enhancers	Right Ventricle	heart
49	chr9:71787800-71788400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr9:71787800-71788400	Enhancers	Skeletal Muscle Female	skeletal muscle

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