Variant report

Variant	rs545727902
Chromosome Location	chr7:108096796-108096797
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	RAD21	chr7:108096682-108097101	H1-hESC	embryonic stem cell:	n/a	chr7:108097072-108097086
2	CREB1	chr7:108096435-108097279	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr7:108096544-108096987	A549	lung:	n/a	chr7:108096814-108096823
4	SIN3AK20	chr7:108096545-108097097	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:108096581-108096844	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr7:108096362-108097321	H1-hESC	embryonic stem cell:	n/a	chr7:108097160-108097170
7	ELF1	chr7:108095080-108097286	MCF-7	breast:	n/a	chr7:108096696-108096708 chr7:108095553-108095565
8	POLR2A	chr7:108096681-108096800	MCF10A-Er-Src	breast:	n/a	n/a
9	EGR1	chr7:108096689-108097251	MCF-7	breast:	n/a	chr7:108097162-108097172 chr7:108096980-108096994 chr7:108097163-108097176 chr7:108097166-108097175 chr7:108096816-108096825 chr7:108096696-108096706 chr7:108097169-108097182
10	PML	chr7:108095346-108097164	MCF-7	breast:	n/a	n/a
11	MAX	chr7:108095818-108097364	ECC-1	luminal epithelium:	n/a	chr7:108097160-108097170
12	ZNF263	chr7:108094568-108097195	HEK293-T-REx	kidney:	n/a	n/a
13	REST	chr7:108096462-108097041	MCF-7	breast:	n/a	chr7:108096833-108096846 chr7:108096727-108096741 chr7:108096731-108096744 chr7:108096539-108096552
14	POLR2A	chr7:108095287-108097186	MCF-7	breast:	n/a	n/a
15	MYC	chr7:108096445-108097188	MCF-7	breast:	n/a	chr7:108097160-108097170
16	PML	chr7:108095400-108097044	MCF-7	breast:	n/a	n/a
17	NANOG	chr7:108096561-108097169	H1-hESC	embryonic stem cell:	n/a	n/a
18	TBP	chr7:108096629-108097116	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F4	chr7:108096737-108096829	MCF10A-Er-Src	breast:	n/a	chr7:108096814-108096823
20	POLR2A	chr7:108094942-108097290	MCF-7	breast:	n/a	n/a
21	REST	chr7:108094890-108097262	H1-neurons	neurons:	n/a	chr7:108096833-108096846 chr7:108096727-108096741 chr7:108096064-108096077 chr7:108096731-108096744 chr7:108095170-108095183 chr7:108096539-108096552
22	TAF1	chr7:108095088-108096932	H1-neurons	neurons:	n/a	n/a
23	JUND	chr7:108096349-108097186	A549	lung:	n/a	n/a
24	POLR2A	chr7:108094915-108097284	HUVEC	blood vessel:	n/a	n/a
25	TAF1	chr7:108096003-108097186	MCF-7	breast:	n/a	n/a
26	TAF1	chr7:108096599-108096899	H1-hESC	embryonic stem cell:	n/a	n/a
27	REST	chr7:108096411-108097182	SK-N-SH	brain:	n/a	chr7:108096833-108096846 chr7:108096727-108096741 chr7:108096731-108096744 chr7:108096539-108096552
28	HDAC2	chr7:108094839-108097363	MCF-7	breast:	n/a	chr7:108095310-108095324 chr7:108097314-108097328 chr7:108095306-108095320 chr7:108096817-108096826
29	EGR1	chr7:108096761-108097139	H1-hESC	embryonic stem cell:	n/a	chr7:108096980-108096994 chr7:108096816-108096825
30	MYC	chr7:108096579-108097161	MCF-7	breast:	n/a	n/a
31	GATA3	chr7:108095524-108097329	MCF-7	breast:	n/a	chr7:108096767-108096776
32	ZBTB7A	chr7:108096630-108097004	K562	blood:	n/a	n/a
33	MAZ	chr7:108096091-108097139	GM12878	blood:	n/a	n/a
34	UBTF	chr7:108096567-108096830	K562	blood:	n/a	n/a
35	POLR2A	chr7:108095047-108097261	A549	lung:	n/a	n/a
36	GATA3	chr7:108096573-108097361	A549	lung:	n/a	chr7:108096767-108096776
37	MAX	chr7:108096206-108097262	MCF-7	breast:	n/a	chr7:108097160-108097170
38	FOXM1	chr7:108095903-108097175	MCF-7	breast:	n/a	n/a
39	POLR2A	chr7:108096417-108097096	HUVEC	blood vessel:	n/a	n/a
40	HA-E2F1	chr7:108094960-108097697	MCF-7	breast:	n/a	chr7:108095839-108095848 chr7:108095496-108095505 chr7:108097430-108097439 chr7:108097075-108097085 chr7:108097189-108097201 chr7:108096365-108096374 chr7:108096253-108096262 chr7:108095502-108095514 chr7:108097162-108097171 chr7:108096814-108096823
41	RAD21	chr7:108092449-108097615	SK-N-SH	brain:	n/a	chr7:108096386-108096400 chr7:108097072-108097086
42	NR3C1	chr7:108096719-108097200	A549	lung:	n/a	chr7:108097091-108097104 chr7:108097180-108097193
43	EGR1	chr7:108096700-108097224	ECC-1	luminal epithelium:	n/a	chr7:108097162-108097172 chr7:108096980-108096994 chr7:108097163-108097176 chr7:108097166-108097175 chr7:108096816-108096825 chr7:108097169-108097182
44	POLR2A	chr7:108095206-108097275	MCF-7	breast:	n/a	n/a
45	YY1	chr7:108096694-108097143	H1-hESC	embryonic stem cell:	n/a	chr7:108096694-108096708 chr7:108096794-108096808 chr7:108097075-108097089
46	SIN3AK20	chr7:108094730-108097416	MCF-7	breast:	n/a	n/a
47	POLR2A	chr7:108095015-108097240	A549	lung:	n/a	n/a
48	JUND	chr7:108096739-108097119	H1-hESC	embryonic stem cell:	n/a	n/a
49	SIN3AK20	chr7:108096443-108096886	A549	lung:	n/a	n/a
50	NR3C1	chr7:108095252-108097190	A549	lung:	n/a	chr7:108096018-108096031 chr7:108097091-108097104 chr7:108096457-108096470

No.	Distal block	Cell Line	Cell type
1	chr7:108094270..108096861-chr7:108164817..108167585,2	MCF-7	breast:
2	chr1:149857130..149858704-chr7:108095136..108097059,2	MCF-7	breast:
3	chr7:107996666..108000210-chr7:108094187..108098858,6	MCF-7	breast:
4	chr7:107998008..108001072-chr7:108096682..108098603,3	MCF-7	breast:
5	chr7:108095582..108097658-chr7:108210312..108212186,2	MCF-7	breast:
6	chr7:107817682..107823715-chr7:108094168..108099407,9	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region
ENSG00000266112	Chromatin interaction
ENSG00000128590	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000135241	Chromatin interaction
ENSG00000091129	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	esv3358442	chr7:108095941-108098489	Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108094600-108097800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:108094800-108096800	Active TSS	Brain Angular Gyrus	brain
3	chr7:108094800-108096800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
4	chr7:108094800-108097800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:108095000-108096800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
6	chr7:108095000-108096800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
7	chr7:108095000-108096800	Bivalent/Poised TSS	NHDF-Ad	bronchial
8	chr7:108095000-108097000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:108095000-108097000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:108095000-108097200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:108095000-108097200	Active TSS	HSMM	muscle
12	chr7:108095000-108097400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:108095000-108097400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:108095000-108097400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:108095000-108097400	Active TSS	A549	lung
16	chr7:108095000-108097600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:108095000-108097600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr7:108095000-108097800	Active TSS	Fetal Brain Female	brain
19	chr7:108095000-108098000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr7:108095200-108096800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:108095200-108096800	Flanking Active TSS	Liver	Liver
22	chr7:108095200-108096800	Active TSS	Brain Substantia Nigra	brain
23	chr7:108095200-108096800	Active TSS	Fetal Brain Male	brain
24	chr7:108095200-108096800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr7:108095200-108097000	Active TSS	HSMMtube	muscle
26	chr7:108095200-108097000	Bivalent/Poised TSS	NHLF	lung
27	chr7:108095200-108097200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:108095200-108097200	Active TSS	Aorta	Aorta
29	chr7:108095200-108097200	Active TSS	Fetal Kidney	kidney
30	chr7:108095200-108097200	Active TSS	HUVEC	blood vessel
31	chr7:108095200-108097200	Bivalent/Poised TSS	Osteobl	bone
32	chr7:108095200-108097400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr7:108095200-108097600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr7:108095200-108097600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr7:108095200-108097600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr7:108095200-108097600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr7:108095200-108097600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:108095200-108097800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:108095200-108097800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
40	chr7:108095200-108097800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:108095200-108097800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr7:108095200-108098000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:108095200-108098200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr7:108095400-108096800	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr7:108095400-108096800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:108095400-108096800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
47	chr7:108095400-108096800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
48	chr7:108095400-108097000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:108095400-108097000	Active TSS	Muscle Satellite Cultured Cells	--
50	chr7:108095400-108097200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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