Variant report

Variant	rs559948622
Chromosome Location	chr7:121945593-121945594
allele	G/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	SUZ12	chr7:121939309-121947723	NT2-D1	testis:	n/a	n/a
2	BACH1	chr7:121945507-121946472	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF263	chr7:121945162-121946325	HEK293-T-REx	kidney:	n/a	n/a
4	SUZ12	chr7:121945474-121946761	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr7:121945254-121947668	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:121945315-121946389	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr7:121941838-121946388	SK-N-MC	brain:	n/a	n/a
8	TCF7L2	chr7:121944782-121946275	HCT-116	colon:	n/a	n/a
9	SIN3A	chr7:121943697-121947785	H1-hESC	embryonic stem cell:	n/a	chr7:121946328-121946337
10	POLR2A	chr7:121943901-121947195	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr7:121941717-121947807	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121944178..121945755-chr7:121949719..121951349,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRZ1-2	chr7:121945342-121945871	ENSG00000230316.2

Variant related genes	Relation type
FEZF1-AS1	TF binding region
FEZF1	TF binding region
ENSG00000128610	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv5931	chr7:121944137-121988594	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121939800-121947600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:121940000-121951000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:121943000-121945800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:121943400-121947600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:121943400-121947600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:121943400-121947600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:121943400-121947800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:121943400-121948000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:121943600-121945800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr7:121943800-121945800	Bivalent Enhancer	Fetal Stomach	stomach
11	chr7:121943800-121946400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
12	chr7:121943800-121947400	Bivalent Enhancer	Fetal Brain Male	brain
13	chr7:121944000-121945600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:121944000-121946000	Bivalent Enhancer	Ovary	ovary
15	chr7:121944000-121947000	Bivalent Enhancer	Lung	lung
16	chr7:121944000-121947000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
17	chr7:121944000-121947600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:121944000-121947800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr7:121944200-121945800	Bivalent Enhancer	HUVEC	blood vessel
20	chr7:121944200-121946000	Bivalent Enhancer	Esophagus	oesophagus
21	chr7:121944200-121946200	Bivalent Enhancer	Fetal Intestine Large	intestine
22	chr7:121944200-121946400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr7:121944200-121946600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr7:121944200-121946800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:121944200-121947400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr7:121944400-121945800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:121944400-121945800	Bivalent/Poised TSS	Psoas Muscle	Psoas
28	chr7:121944400-121945800	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr7:121944400-121946000	Bivalent/Poised TSS	HSMMtube	muscle
30	chr7:121944400-121946200	Flanking Active TSS	Right Ventricle	heart
31	chr7:121944400-121946800	Bivalent Enhancer	Fetal Lung	lung
32	chr7:121944600-121945800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr7:121944600-121945800	Active TSS	Right Atrium	heart
34	chr7:121944600-121946200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:121944600-121946400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
36	chr7:121944800-121945600	Bivalent Enhancer	Fetal Heart	heart
37	chr7:121944800-121945800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
38	chr7:121944800-121945800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr7:121944800-121946000	Bivalent/Poised TSS	NHEK	skin
40	chr7:121944800-121947600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:121945000-121945600	Bivalent Enhancer	Colon Smooth Muscle	Colon
42	chr7:121945000-121946400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
43	chr7:121945200-121945600	Flanking Bivalent TSS/Enh	Placenta	Placenta
44	chr7:121945200-121945600	Bivalent Enhancer	Small Intestine	intestine
45	chr7:121945200-121945800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:121945200-121945800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:121945200-121945800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:121945200-121945800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr7:121945200-121946200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
50	chr7:121945200-121946400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon

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