Variant report

Variant	rs78758979
Chromosome Location	chr7:108097225-108097226
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	CREB1	chr7:108096435-108097279	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr7:108096362-108097321	H1-hESC	embryonic stem cell:	n/a	chr7:108097160-108097170
3	ELF1	chr7:108095080-108097286	MCF-7	breast:	n/a	chr7:108096696-108096708 chr7:108095553-108095565
4	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
5	MAX	chr7:108095818-108097364	ECC-1	luminal epithelium:	n/a	chr7:108097160-108097170
6	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
7	POLR2A	chr7:108094942-108097290	MCF-7	breast:	n/a	n/a
8	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
9	POLR2A	chr7:108094915-108097284	HUVEC	blood vessel:	n/a	n/a
10	HDAC2	chr7:108094839-108097363	MCF-7	breast:	n/a	chr7:108095310-108095324 chr7:108097314-108097328 chr7:108095306-108095320 chr7:108096817-108096826
11	GATA3	chr7:108095524-108097329	MCF-7	breast:	n/a	chr7:108096767-108096776
12	POLR2A	chr7:108095047-108097261	A549	lung:	n/a	n/a
13	GATA3	chr7:108096573-108097361	A549	lung:	n/a	chr7:108096767-108096776
14	MAX	chr7:108096206-108097262	MCF-7	breast:	n/a	chr7:108097160-108097170
15	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
16	RAD21	chr7:108092449-108097615	SK-N-SH	brain:	n/a	chr7:108096386-108096400 chr7:108097072-108097086
17	POLR2A	chr7:108095206-108097275	MCF-7	breast:	n/a	n/a
18	SIN3AK20	chr7:108094730-108097416	MCF-7	breast:	n/a	n/a
19	POLR2A	chr7:108095015-108097240	A549	lung:	n/a	n/a
20	MAX	chr7:108094962-108097317	MCF-7	breast:	n/a	chr7:108097160-108097170
21	NR2F2	chr7:108095935-108097337	MCF-7	breast:	n/a	n/a
22	TCF12	chr7:108094927-108097349	A549	lung:	n/a	chr7:108095977-108095984
23	SP1	chr7:108096723-108097323	A549	lung:	n/a	chr7:108097168-108097178 chr7:108097168-108097177
24	POLR2A	chr7:108094976-108097263	H1-neurons	neurons:	n/a	n/a
25	SP1	chr7:108096505-108097233	A549	lung:	n/a	chr7:108097168-108097178 chr7:108097168-108097177
26	MAX	chr7:108095981-108097364	ECC-1	luminal epithelium:	n/a	chr7:108097160-108097170
27	MAX	chr7:108096483-108097339	H1-hESC	embryonic stem cell:	n/a	chr7:108097160-108097170
28	ZBTB7A	chr7:108095254-108097271	ECC-1	luminal epithelium:	n/a	n/a
29	EGR1	chr7:108095993-108097283	MCF-7	breast:	n/a	chr7:108097162-108097172 chr7:108095996-108096009 chr7:108096980-108096994 chr7:108097163-108097176 chr7:108097166-108097175 chr7:108096816-108096825 chr7:108096696-108096706 chr7:108097169-108097182
30	POLR2A	chr7:108094923-108097280	H1-neurons	neurons:	n/a	n/a
31	MAX	chr7:108094744-108097359	A549	lung:	n/a	chr7:108097160-108097170
32	ZBTB7A	chr7:108095071-108097291	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr7:108094730-108097417	A549	lung:	n/a	chr7:108097160-108097170
34	SIN3AK20	chr7:108095136-108097322	MCF-7	breast:	n/a	n/a
35	HDAC2	chr7:108095955-108097226	MCF-7	breast:	n/a	chr7:108096817-108096826
36	CREB1	chr7:108095186-108097260	A549	lung:	n/a	n/a
37	E2F6	chr7:108096417-108097368	A549	lung:	n/a	chr7:108097075-108097085 chr7:108097189-108097201 chr7:108097162-108097171 chr7:108096814-108096823
38	TCF12	chr7:108095390-108097324	ECC-1	luminal epithelium:	n/a	chr7:108095977-108095984

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:108097187-108097237	CMK	blood:	n/a
2	chr7:108097187-108097237	BE2_C	brain:	n/a
3	chr7:108097187-108097237	ECC-1	luminal epithelium:	n/a
4	chr7:108097205-108097255	SK-N-SH_RA	brain:	n/a
5	chr7:108097187-108097237	GM19239	blood:	n/a
6	chr7:108097205-108097255	NHDF-neo	bronchial:	n/a
7	chr7:108097187-108097237	NHDF-neo	bronchial:	n/a
8	chr7:108097205-108097255	HCT-116	colon:	n/a
9	chr7:108097205-108097255	AG09319	gingival:	n/a
10	chr7:108097187-108097237	RPTEC	kidney:	n/a
11	chr7:108097205-108097255	BJ	skin:	n/a
12	chr7:108097205-108097255	A549	lung:	n/a
13	chr7:108097205-108097255	Caco-2	colon:	n/a
14	chr7:108097205-108097255	H1-hESC	embryonic stem cell:	embryo
15	chr7:108097205-108097255	HepG2	liver:	n/a
16	chr7:108097205-108097255	PrEC	prostate:	n/a
17	chr7:108097205-108097255	SKMC	muscle:	n/a
18	chr7:108097187-108097237	HIPEpiC	eye:	n/a
19	chr7:108097187-108097237	H1-hESC	embryonic stem cell:	embryo
20	chr7:108097187-108097237	MCF-7	breast:	n/a
21	chr7:108097187-108097237	HRCEpiC	kidney:	n/a
22	chr7:108097205-108097255	ProgFib	skin:	n/a
23	chr7:108097205-108097255	Hela-S3	cervix:	n/a
24	chr7:108097205-108097255	GM06990	blood:	n/a
25	chr7:108097205-108097255	SAEC	small airway:	n/a
26	chr7:108097205-108097255	NT2-D1	testis:	n/a
27	chr7:108097187-108097237	PANC-1	pancreas:	n/a
28	chr7:108097205-108097255	ovcar-3	ovarian:	n/a
29	chr7:108097205-108097255	Hepatocyte	liver:	n/a
30	chr7:108097205-108097255	AG04450	lung:	fetal
31	chr7:108097187-108097237	HRPEpiC	eye:	n/a
32	chr7:108097205-108097255	K562	blood:	n/a
33	chr7:108097187-108097237	AG09319	gingival:	n/a
34	chr7:108097205-108097255	T-47D	breast:	n/a
35	chr7:108097205-108097255	NB4	blood:	n/a
36	chr7:108097205-108097255	HL-60	blood:	n/a
37	chr7:108097205-108097255	HIPEpiC	eye:	n/a
38	chr7:108097205-108097255	HCPEpiC	choroid plexus:	n/a
39	chr7:108097205-108097255	HEEpiC	esophagus:	n/a
40	chr7:108097187-108097237	IMR90	lung:	fetal
41	chr7:108097187-108097237	HL-60	blood:	n/a
42	chr7:108097205-108097255	HRPEpiC	eye:	n/a
43	chr7:108097187-108097237	AG04449	skin:	fetal
44	chr7:108097187-108097237	Caco-2	colon:	n/a
45	chr7:108097187-108097237	SK-N-SH_RA	brain:	n/a
46	chr7:108097187-108097237	AoSMC	blood vessel:	n/a
47	chr7:108097187-108097237	HCPEpiC	choroid plexus:	n/a
48	chr7:108097205-108097255	SK-N-SH	brain:	n/a
49	chr7:108097205-108097255	HNPCEpiC	eye:	n/a
50	chr7:108097187-108097237	NB4	blood:	n/a

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

Variant related genes	Relation type
NRCAM	TF binding region
NRCAM	CpG island
ENSG00000128590	Chromatin interaction
ENSG00000091129	Chromatin interaction
ENSG00000266112	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:77 , 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	chr7:108095000-108097400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:108095000-108097400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:108095000-108097400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:108095000-108097400	Active TSS	A549	lung
7	chr7:108095000-108097600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:108095000-108097600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr7:108095000-108097800	Active TSS	Fetal Brain Female	brain
10	chr7:108095000-108098000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr7:108095200-108097400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr7:108095200-108097600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr7:108095200-108097600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:108095200-108097600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr7:108095200-108097600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr7:108095200-108097600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:108095200-108097800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr7:108095200-108097800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr7:108095200-108097800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:108095200-108097800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
21	chr7:108095200-108098000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:108095200-108098200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr7:108095400-108097400	Active TSS	Brain Anterior Caudate	brain
24	chr7:108095400-108097600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:108095600-108097400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:108096000-108097400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
27	chr7:108096200-108097400	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr7:108096200-108097400	Active TSS	HMEC	breast
29	chr7:108096200-108097600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:108096200-108097600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:108096200-108097600	Bivalent/Poised TSS	NHEK	skin
32	chr7:108096200-108097800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:108096400-108097600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr7:108096400-108097800	Active TSS	Brain Cingulate Gyrus	brain
35	chr7:108096600-108097400	Active TSS	Primary hematopoietic stem cells	blood
36	chr7:108096600-108097400	Active TSS	Ovary	ovary
37	chr7:108096600-108097400	Bivalent/Poised TSS	Thymus	Thymus
38	chr7:108096600-108097800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:108096600-108097800	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr7:108096600-108097800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
41	chr7:108096800-108097400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr7:108096800-108097400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:108096800-108097400	Active TSS	Placenta	Placenta
44	chr7:108096800-108097400	Bivalent/Poised TSS	Spleen	Spleen
45	chr7:108096800-108097400	Bivalent/Poised TSS	GM12878-XiMat	blood
46	chr7:108096800-108097600	Active TSS	Brain Hippocampus Middle	brain
47	chr7:108096800-108097600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr7:108096800-108097600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
49	chr7:108096800-108097800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:108096800-108097800	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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