Variant report

Variant	rs568654358
Chromosome Location	chr7:96635701-96635702
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:96635600-96635750	WERI-Rb-1	eye:	n/a	n/a
2	MXI1	chr7:96635329-96636305	HepG2	liver:	n/a	n/a
3	EP300	chr7:96635649-96636077	HepG2	liver:	n/a	n/a
4	MAX	chr7:96635278-96636266	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr7:96633990-96635799	H1-neurons	neurons:	n/a	chr7:96635204-96635222 chr7:96634677-96634690
6	YY1	chr7:96635271-96635722	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr7:96635530-96635778	HepG2	liver:	n/a	n/a
8	E2F6	chr7:96635449-96636230	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr7:96635131-96636250	ECC-1	luminal epithelium:	n/a	n/a
10	TAF1	chr7:96635227-96636020	HepG2	liver:	n/a	n/a
11	CTCF	chr7:96635660-96635810	WERI-Rb-1	eye:	n/a	n/a
12	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
13	TAF1	chr7:96635247-96636135	HepG2	liver:	n/a	n/a
14	RAD21	chr7:96635508-96635870	HepG2	liver:	n/a	n/a
15	MAX	chr7:96635287-96636956	HepG2	liver:	n/a	n/a
16	MAX	chr7:96635183-96635857	A549	lung:	n/a	n/a
17	CTBP2	chr7:96635356-96637298	H1-hESC	embryonic stem cell:	n/a	n/a
18	EP300	chr7:96635137-96635948	ECC-1	luminal epithelium:	n/a	n/a
19	ZNF143	chr7:96635637-96636811	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr7:96634323-96637321	HepG2	liver:	n/a	n/a
21	POLR2A	chr7:96634474-96636384	HepG2	liver:	n/a	n/a
22	CHD1	chr7:96635579-96636197	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr7:96635634-96635747	HepG2	liver:	n/a	n/a
24	CREB1	chr7:96634423-96636395	HepG2	liver:	n/a	chr7:96634808-96634821
25	FOXP2	chr7:96635343-96635831	PFSK-1	brain:	n/a	n/a
26	CHD2	chr7:96635671-96636183	HepG2	liver:	n/a	n/a
27	MAX	chr7:96635326-96636166	ECC-1	luminal epithelium:	n/a	n/a
28	TAF1	chr7:96635101-96635844	H1-neurons	neurons:	n/a	n/a
29	CTCF	chr7:96635640-96635790	HepG2	liver:	n/a	n/a
30	ZNF263	chr7:96634409-96636733	HEK293-T-REx	kidney:	n/a	n/a
31	MXI1	chr7:96633643-96636712	SK-N-SH	brain:	n/a	n/a
32	CTCF	chr7:96635634-96635738	NHEK	skin:	n/a	n/a
33	SIN3A	chr7:96635249-96636204	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr7:96635443-96635840	HepG2	liver:	n/a	n/a
35	TAF1	chr7:96634199-96635841	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr7:96635426-96635776	ECC-1	luminal epithelium:	n/a	n/a
37	HDAC2	chr7:96635551-96636203	HepG2	liver:	n/a	n/a
38	RAD21	chr7:96635516-96635931	SK-N-SH_RA	brain:	n/a	n/a
39	POLR2A	chr7:96635388-96635763	HepG2	liver:	n/a	n/a
40	CTCF	chr7:96635577-96635730	SK-N-SH_RA	brain:	n/a	n/a
41	POLR2A	chr7:96635215-96636723	HepG2	liver:	n/a	n/a
42	POLR2A	chr7:96635345-96636077	ECC-1	luminal epithelium:	n/a	n/a
43	YY1	chr7:96635397-96635706	SK-N-SH_RA	brain:	n/a	n/a
44	MAX	chr7:96635415-96636308	HepG2	liver:	n/a	n/a
45	YY1	chr7:96635117-96636241	HepG2	liver:	n/a	n/a
46	CTCF	chr7:96635600-96635750	HMEC	breast:	n/a	n/a
47	EP300	chr7:96635097-96635860	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr7:96635381-96636101	HepG2	liver:	n/a	n/a
49	EP300	chr7:96635528-96636129	HepG2	liver:	n/a	n/a
50	RFX5	chr7:96633626-96636275	SK-N-SH	brain:	n/a	n/a

No data

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:94 , 50 per page) page: 1 2

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	chr7:96634400-96636000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr7:96634400-96636000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:96634400-96636000	Active TSS	HepG2	liver
11	chr7:96634400-96636400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:96634400-96636600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:96634400-96636600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:96634400-96636800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr7:96634400-96637200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:96634400-96638200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
17	chr7:96634600-96635800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:96634600-96635800	Bivalent/Poised TSS	NHLF	lung
19	chr7:96634600-96636000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:96634600-96636000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:96634600-96636000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr7:96634600-96636000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:96634600-96636000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
24	chr7:96634600-96636000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:96634600-96636200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:96634600-96636200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:96634600-96636200	Bivalent/Poised TSS	Thymus	Thymus
28	chr7:96634600-96636200	Active TSS	Osteobl	bone
29	chr7:96634600-96636800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:96634800-96635800	Bivalent/Poised TSS	Colonic Mucosa	Colon
31	chr7:96634800-96635800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr7:96634800-96635800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr7:96634800-96635800	Active TSS	A549	lung
34	chr7:96634800-96636000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:96635000-96635800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:96635000-96635800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:96635000-96635800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:96635000-96635800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:96635000-96635800	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
40	chr7:96635000-96635800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
41	chr7:96635000-96635800	Bivalent/Poised TSS	Psoas Muscle	Psoas
42	chr7:96635000-96635800	Bivalent/Poised TSS	NHEK	skin
43	chr7:96635000-96636000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr7:96635000-96636000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr7:96635000-96636000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr7:96635000-96636000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:96635000-96636000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
48	chr7:96635000-96636000	Bivalent/Poised TSS	Esophagus	oesophagus
49	chr7:96635000-96636000	Bivalent/Poised TSS	Placenta	Placenta
50	chr7:96635000-96636000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle

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