Variant report

Variant	rs142754955
Chromosome Location	chr7:84158849-84158850
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	STAT3	chr7:84158741-84158941	MCF10A-Er-Src	breast:	n/a	n/a
2	FOXM1	chr7:84158568-84159404	MCF-7	breast:	n/a	n/a
3	NR3C1	chr7:84158719-84159042	A549	lung:	n/a	n/a
4	RAD21	chr7:84158610-84159344	Hela-S3	cervix:	n/a	n/a
5	HDAC2	chr7:84158726-84159317	MCF-7	breast:	n/a	n/a
6	EP300	chr7:84158548-84159957	SK-N-SH	brain:	n/a	chr7:84158703-84158717 chr7:84159530-84159538
7	MAX	chr7:84158560-84159565	A549	lung:	n/a	n/a
8	NR3C1	chr7:84158674-84158998	A549	lung:	n/a	n/a
9	HDAC2	chr7:84158653-84159270	MCF-7	breast:	n/a	chr7:84158703-84158717 chr7:84158699-84158713 chr7:84158704-84158718
10	TCF12	chr7:84158636-84159237	A549	lung:	n/a	n/a
11	EP300	chr7:84158611-84159465	MCF-7	breast:	n/a	chr7:84158703-84158717
12	TFAP2A	chr7:84158479-84159298	Hela-S3	cervix:	n/a	n/a
13	TEAD4	chr7:84158499-84159447	A549	lung:	n/a	n/a
14	RCOR1	chr7:84158672-84159412	Hela-S3	cervix:	n/a	n/a
15	TCF12	chr7:84158618-84159294	MCF-7	breast:	n/a	n/a
16	CEBPB	chr7:84158543-84159457	A549	lung:	n/a	n/a
17	POLR2A	chr7:84158630-84159329	PANC-1	pancreas:	n/a	n/a
18	TCF12	chr7:84158498-84159489	MCF-7	breast:	n/a	chr7:84158535-84158542
19	TCF7L2	chr7:84158701-84159129	MCF-7	breast:	n/a	n/a
20	JUND	chr7:84158530-84159399	MCF-7	breast:	n/a	n/a
21	GATA3	chr7:84158464-84159519	MCF-7	breast:	n/a	chr7:84158618-84158628 chr7:84158937-84158945
22	FOS	chr7:84158643-84159150	MCF10A-Er-Src	breast:	n/a	n/a
23	BRCA1	chr7:84158325-84159418	Hela-S3	cervix:	n/a	n/a
24	PBX3	chr7:84158829-84159544	SK-N-SH	brain:	n/a	n/a
25	ESR1	chr7:84158581-84158985	ECC-1	luminal epithelium:	n/a	n/a
26	TCF7L2	chr7:84158481-84159368	PANC-1	pancreas:	n/a	n/a
27	JUND	chr7:84158560-84159321	MCF-7	breast:	n/a	n/a
28	EP300	chr7:84158577-84159390	Hela-S3	cervix:	n/a	chr7:84158703-84158717
29	ESR1	chr7:84158620-84159019	T-47D	breast:	n/a	n/a
30	FOSL2	chr7:84158646-84159486	SK-N-SH	brain:	n/a	n/a
31	JUND	chr7:84158698-84159101	A549	lung:	n/a	n/a
32	KAP1	chr7:84158797-84159475	U2OS	brain:	n/a	n/a
33	ESR1	chr7:84158715-84159005	T-47D	breast:	n/a	n/a
34	RAD21	chr7:84158698-84159430	A549	lung:	n/a	n/a
35	CEBPB	chr7:84158635-84159110	A549	lung:	n/a	n/a
36	FOSL1	chr7:84158686-84159133	HCT-116	colon:	n/a	n/a
37	GATA3	chr7:84158208-84159538	MCF-7	breast:	n/a	chr7:84158618-84158628 chr7:84158937-84158945
38	GATA2	chr7:84158683-84159069	HUVEC	blood vessel:	n/a	chr7:84158906-84158920
39	CEBPB	chr7:84158777-84159406	IMR90	lung:	n/a	n/a
40	FOSL2	chr7:84158662-84159239	A549	lung:	n/a	n/a
41	GATA3	chr7:84158397-84159641	A549	lung:	n/a	chr7:84158618-84158628 chr7:84158937-84158945
42	SP1	chr7:84158649-84159132	HCT-116	colon:	n/a	n/a
43	TEAD4	chr7:84158717-84159043	HCT-116	colon:	n/a	n/a
44	MAFK	chr7:84158113-84159442	Hela-S3	cervix:	n/a	chr7:84159075-84159091
45	ESR1	chr7:84158667-84158983	T-47D	breast:	n/a	n/a
46	MYC	chr7:84158689-84158995	MCF10A-Er-Src	breast:	n/a	n/a
47	GATA3	chr7:84158685-84159153	MCF-7	breast:	n/a	chr7:84158937-84158945
48	GABPA	chr7:84158644-84159121	A549	lung:	n/a	n/a
49	USF2	chr7:84158747-84158969	Hela-S3	cervix:	n/a	n/a
50	GATA3	chr7:84158701-84159271	MCF-7	breast:	n/a	chr7:84158937-84158945

No.	Distal block	Cell Line	Cell type
1	chr7:84158432..84159358-chr7:84499153..84500086,4	MCF-7	breast:
2	chr7:84158432..84159047-chr7:84499527..84500086,2	MCF-7	breast:
3	chr7:84158367..84158951-chr7:84240610..84241382,2	MCF-7	breast:
4	chr7:84158595..84159433-chr7:84240484..84241224,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235139	TF binding region
RPL7P30	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv2754468	chr7:83851249-84166749	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv888634	chr7:84086502-84196258	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv888635	chr7:84086502-84344258	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv888636	chr7:84117594-84334498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv607710	chr7:84137622-84168615	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv888637	chr7:84137622-84213008	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv464620	chr7:84141077-84289915	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv607711	chr7:84141077-84289915	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1031149	chr7:84144990-84404356	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	esv3380185	chr7:84151822-84159736	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
13	esv3361857	chr7:84152054-84159936	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
14	nsv888638	chr7:84158180-84334498	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv888639	chr7:84158180-84344258	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84157400-84160800	Enhancers	Hela-S3	cervix
2	chr7:84157600-84159600	Enhancers	Fetal Intestine Large	intestine
3	chr7:84157600-84162400	Enhancers	Fetal Intestine Small	intestine
4	chr7:84158000-84159200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:84158000-84160000	Enhancers	NHEK	skin
6	chr7:84158000-84160800	Enhancers	NHDF-Ad	bronchial
7	chr7:84158200-84159400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:84158200-84159400	Enhancers	Colon Smooth Muscle	Colon
9	chr7:84158200-84159600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:84158200-84161000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:84158400-84159600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:84158400-84159600	Enhancers	HSMM	muscle
13	chr7:84158400-84159600	Enhancers	HUVEC	blood vessel
14	chr7:84158400-84159600	Enhancers	NHLF	lung
15	chr7:84158400-84159600	Enhancers	Osteobl	bone
16	chr7:84158400-84160000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:84158400-84162600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:84158600-84159000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:84158600-84159000	Enhancers	A549	lung
20	chr7:84158600-84159200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:84158600-84160000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:84158600-84160600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:84158600-84161200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:84158800-84159200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:84158800-84159200	Enhancers	Fetal Lung	lung
26	chr7:84158800-84159400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:84158800-84159400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:84158800-84159400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:84158800-84159400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:84158800-84159600	Enhancers	Stomach Mucosa	stomach
31	chr7:84158800-84159600	Enhancers	HMEC	breast

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