Variant report

Variant	rs569841078
Chromosome Location	chr7:108097044-108097045
allele	A/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	SIN3AK20	chr7:108096545-108097097	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr7:108096832-108097159	K562	blood:	n/a	chr7:108096980-108096994
5	MAX	chr7:108096362-108097321	H1-hESC	embryonic stem cell:	n/a	chr7:108097160-108097170
6	ELF1	chr7:108095080-108097286	MCF-7	breast:	n/a	chr7:108096696-108096708 chr7:108095553-108095565
7	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
8	PML	chr7:108095346-108097164	MCF-7	breast:	n/a	n/a
9	MAX	chr7:108095818-108097364	ECC-1	luminal epithelium:	n/a	chr7:108097160-108097170
10	ZNF263	chr7:108094568-108097195	HEK293-T-REx	kidney:	n/a	n/a
11	EGR1	chr7:108096853-108097235	ECC-1	luminal epithelium:	n/a	chr7:108097162-108097172 chr7:108096980-108096994 chr7:108097163-108097176 chr7:108097166-108097175 chr7:108097169-108097182
12	POLR2A	chr7:108095287-108097186	MCF-7	breast:	n/a	n/a
13	MYC	chr7:108096445-108097188	MCF-7	breast:	n/a	chr7:108097160-108097170
14	EGR1	chr7:108096797-108097151	H1-hESC	embryonic stem cell:	n/a	chr7:108096980-108096994 chr7:108096816-108096825
15	PML	chr7:108095400-108097044	MCF-7	breast:	n/a	n/a
16	NANOG	chr7:108096561-108097169	H1-hESC	embryonic stem cell:	n/a	n/a
17	TBP	chr7:108096629-108097116	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr7:108094942-108097290	MCF-7	breast:	n/a	n/a
19	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
20	JUND	chr7:108096349-108097186	A549	lung:	n/a	n/a
21	POLR2A	chr7:108094915-108097284	HUVEC	blood vessel:	n/a	n/a
22	TAF1	chr7:108096003-108097186	MCF-7	breast:	n/a	n/a
23	YY1	chr7:108096850-108097138	A549	lung:	n/a	chr7:108097075-108097089
24	REST	chr7:108096411-108097182	SK-N-SH	brain:	n/a	chr7:108096833-108096846 chr7:108096727-108096741 chr7:108096731-108096744 chr7:108096539-108096552
25	HDAC2	chr7:108094839-108097363	MCF-7	breast:	n/a	chr7:108095310-108095324 chr7:108097314-108097328 chr7:108095306-108095320 chr7:108096817-108096826
26	EGR1	chr7:108096761-108097139	H1-hESC	embryonic stem cell:	n/a	chr7:108096980-108096994 chr7:108096816-108096825
27	MYC	chr7:108096579-108097161	MCF-7	breast:	n/a	n/a
28	GATA3	chr7:108095524-108097329	MCF-7	breast:	n/a	chr7:108096767-108096776
29	MAZ	chr7:108096091-108097139	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:108095047-108097261	A549	lung:	n/a	n/a
31	GATA3	chr7:108096573-108097361	A549	lung:	n/a	chr7:108096767-108096776
32	MAX	chr7:108096206-108097262	MCF-7	breast:	n/a	chr7:108097160-108097170
33	FOXM1	chr7:108095903-108097175	MCF-7	breast:	n/a	n/a
34	POLR2A	chr7:108096417-108097096	HUVEC	blood vessel:	n/a	n/a
35	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
36	RAD21	chr7:108092449-108097615	SK-N-SH	brain:	n/a	chr7:108096386-108096400 chr7:108097072-108097086
37	NR3C1	chr7:108096719-108097200	A549	lung:	n/a	chr7:108097091-108097104 chr7:108097180-108097193
38	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
39	POLR2A	chr7:108095206-108097275	MCF-7	breast:	n/a	n/a
40	YY1	chr7:108096694-108097143	H1-hESC	embryonic stem cell:	n/a	chr7:108096694-108096708 chr7:108096794-108096808 chr7:108097075-108097089
41	SIN3AK20	chr7:108094730-108097416	MCF-7	breast:	n/a	n/a
42	POLR2A	chr7:108095015-108097240	A549	lung:	n/a	n/a
43	JUND	chr7:108096739-108097119	H1-hESC	embryonic stem cell:	n/a	n/a
44	EGR1	chr7:108096859-108097073	GM12878	blood:	n/a	chr7:108096980-108096994
45	NR3C1	chr7:108095252-108097190	A549	lung:	n/a	chr7:108096018-108096031 chr7:108097091-108097104 chr7:108096457-108096470
46	MAX	chr7:108094962-108097317	MCF-7	breast:	n/a	chr7:108097160-108097170
47	POLR2A	chr7:108095957-108097156	HUVEC	blood vessel:	n/a	n/a
48	ZNF143	chr7:108096591-108097090	H1-hESC	embryonic stem cell:	n/a	chr7:108096813-108096823
49	MAZ	chr7:108096988-108097055	HepG2	liver:	n/a	n/a
50	NR2F2	chr7:108095935-108097337	MCF-7	breast:	n/a	n/a

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

Variant related genes	Relation type
NRCAM	TF binding region
ENSG00000128590	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000266112	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000091129	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108094600-108097800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:108094800-108097800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:108095000-108097200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:108095000-108097200	Active TSS	HSMM	muscle
5	chr7:108095000-108097400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:108095000-108097400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:108095000-108097400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:108095000-108097400	Active TSS	A549	lung
9	chr7:108095000-108097600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:108095000-108097600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr7:108095000-108097800	Active TSS	Fetal Brain Female	brain
12	chr7:108095000-108098000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
13	chr7:108095200-108097200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:108095200-108097200	Active TSS	Aorta	Aorta
15	chr7:108095200-108097200	Active TSS	Fetal Kidney	kidney
16	chr7:108095200-108097200	Active TSS	HUVEC	blood vessel
17	chr7:108095200-108097200	Bivalent/Poised TSS	Osteobl	bone
18	chr7:108095200-108097400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr7:108095200-108097600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:108095200-108097600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:108095200-108097600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr7:108095200-108097600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr7:108095200-108097600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:108095200-108097800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr7:108095200-108097800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr7:108095200-108097800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:108095200-108097800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
28	chr7:108095200-108098000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr7:108095200-108098200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr7:108095400-108097200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:108095400-108097200	Transcr. at gene 5' and 3'	Right Atrium	heart
32	chr7:108095400-108097400	Active TSS	Brain Anterior Caudate	brain
33	chr7:108095400-108097600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:108095600-108097200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:108095600-108097200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:108095600-108097400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:108096000-108097200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:108096000-108097200	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr7:108096000-108097400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
40	chr7:108096200-108097200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr7:108096200-108097200	Active TSS	Gastric	stomach
42	chr7:108096200-108097400	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:108096200-108097400	Active TSS	HMEC	breast
44	chr7:108096200-108097600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:108096200-108097600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:108096200-108097600	Bivalent/Poised TSS	NHEK	skin
47	chr7:108096200-108097800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:108096400-108097200	Active TSS	Fetal Lung	lung
49	chr7:108096400-108097200	Bivalent/Poised TSS	Left Ventricle	heart
50	chr7:108096400-108097600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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