Variant report

Variant	rs375278814
Chromosome Location	chr7:96635281-96635282
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	MAX	chr7:96635278-96636266	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr7:96633990-96635799	H1-neurons	neurons:	n/a	chr7:96635204-96635222 chr7:96634677-96634690
3	YY1	chr7:96635271-96635722	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr7:96635131-96636250	ECC-1	luminal epithelium:	n/a	n/a
5	TAF1	chr7:96635227-96636020	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
7	TAF1	chr7:96635247-96636135	HepG2	liver:	n/a	n/a
8	MAX	chr7:96635183-96635857	A549	lung:	n/a	n/a
9	POLR2A	chr7:96635243-96635301	K562	blood:	n/a	n/a
10	EP300	chr7:96635137-96635948	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr7:96634323-96637321	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:96634474-96636384	HepG2	liver:	n/a	n/a
13	CREB1	chr7:96634423-96636395	HepG2	liver:	n/a	chr7:96634808-96634821
14	TAF1	chr7:96635101-96635844	H1-neurons	neurons:	n/a	n/a
15	ZNF263	chr7:96634409-96636733	HEK293-T-REx	kidney:	n/a	n/a
16	MXI1	chr7:96633643-96636712	SK-N-SH	brain:	n/a	n/a
17	SIN3A	chr7:96635249-96636204	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr7:96634199-96635841	H1-neurons	neurons:	n/a	n/a
19	CHD2	chr7:96635208-96635347	HepG2	liver:	n/a	n/a
20	YY1	chr7:96635092-96635647	SK-N-SH_RA	brain:	n/a	n/a
21	POLR2A	chr7:96635215-96636723	HepG2	liver:	n/a	n/a
22	CHD2	chr7:96635210-96635393	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr7:96635117-96636241	HepG2	liver:	n/a	n/a
24	EP300	chr7:96635097-96635860	SK-N-SH	brain:	n/a	n/a
25	RFX5	chr7:96633626-96636275	SK-N-SH	brain:	n/a	n/a
26	YY1	chr7:96635191-96635699	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr7:96628026-96649797	H1-neurons	neurons:	n/a	n/a
28	MAX	chr7:96635169-96636411	HepG2	liver:	n/a	n/a
29	REST	chr7:96624507-96656402	H1-neurons	neurons:	n/a	chr7:96626900-96626913 chr7:96628274-96628287 chr7:96653242-96653252 chr7:96638441-96638449 chr7:96644780-96644790 chr7:96627625-96627635 chr7:96628223-96628236 chr7:96655951-96655958 chr7:96625513-96625526 chr7:96635204-96635222 chr7:96634677-96634690 chr7:96628302-96628315 chr7:96652071-96652084 chr7:96650634-96650647 chr7:96628298-96628318 chr7:96628298-96628318

Variant related genes	Relation type
DLX6	TF binding region
DLX6-AS1	TF binding region

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	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3443017	chr7:96634416-96636664	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96625000-96644000	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr7:96628000-96643200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr7:96633800-96637000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:96634000-96638200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:96634200-96635800	Bivalent/Poised TSS	HSMM	muscle
6	chr7:96634200-96636000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:96634200-96636000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:96634400-96635400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr7:96634400-96635400	Enhancers	Gastric	stomach
10	chr7:96634400-96635400	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr7:96634400-96635400	ZNF genes & repeats	Spleen	Spleen
12	chr7:96634400-96635600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
13	chr7:96634400-96635600	Bivalent Enhancer	Fetal Thymus	thymus
14	chr7:96634400-96636000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr7:96634400-96636000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:96634400-96636000	Active TSS	HepG2	liver
17	chr7:96634400-96636400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:96634400-96636600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:96634400-96636600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:96634400-96636800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:96634400-96637200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr7:96634400-96638200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
23	chr7:96634600-96635400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:96634600-96635400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr7:96634600-96635600	Bivalent/Poised TSS	HSMMtube	muscle
26	chr7:96634600-96635800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:96634600-96635800	Bivalent/Poised TSS	NHLF	lung
28	chr7:96634600-96636000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:96634600-96636000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:96634600-96636000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr7:96634600-96636000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:96634600-96636000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr7:96634600-96636000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:96634600-96636200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:96634600-96636200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:96634600-96636200	Bivalent/Poised TSS	Thymus	Thymus
37	chr7:96634600-96636200	Active TSS	Osteobl	bone
38	chr7:96634600-96636800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:96634800-96635400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:96634800-96635400	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr7:96634800-96635400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
42	chr7:96634800-96635400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
43	chr7:96634800-96635400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr7:96634800-96635800	Bivalent/Poised TSS	Colonic Mucosa	Colon
45	chr7:96634800-96635800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr7:96634800-96635800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
47	chr7:96634800-96635800	Active TSS	A549	lung
48	chr7:96634800-96636000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:96635000-96635400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:96635000-96635400	Flanking Active TSS	Adipose Nuclei	Adipose

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