Variant report

Variant	rs561240115
Chromosome Location	chr7:121951402-121951403
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	MAX	chr7:121951381-121951709	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:121949496-121954156	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr7:121950731-121951868	SK-N-MC	brain:	n/a	n/a
4	E2F6	chr7:121951311-121952074	H1-hESC	embryonic stem cell:	n/a	chr7:121951969-121951978 chr7:121951583-121951595 chr7:121951967-121951976
5	SIN3A	chr7:121948850-121951494	H1-hESC	embryonic stem cell:	n/a	n/a
6	YY1	chr7:121951341-121951641	H1-hESC	embryonic stem cell:	n/a	n/a
7	YY1	chr7:121950563-121951752	H1-hESC	embryonic stem cell:	n/a	chr7:121950655-121950669 chr7:121950652-121950666

Variant related genes	Relation type
FEZF1	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	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
2	nsv971144	chr7:121950027-121953468	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121949400-121952200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
2	chr7:121950000-121952200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:121950000-121952200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr7:121950000-121952200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:121950000-121952400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:121950200-121951600	Bivalent Enhancer	Stomach Mucosa	stomach
7	chr7:121950200-121952200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:121950200-121952200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:121950400-121952000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr7:121950400-121952200	Bivalent Enhancer	Spleen	Spleen
11	chr7:121950800-121952400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:121951000-121951600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:121951000-121951600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:121951000-121951600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
15	chr7:121951000-121951600	Weak transcription	Gastric	stomach
16	chr7:121951000-121951800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:121951000-121951800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr7:121951000-121951800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:121951000-121951800	Enhancers	Ovary	ovary
20	chr7:121951000-121951800	Active TSS	Right Ventricle	heart
21	chr7:121951000-121951800	Bivalent Enhancer	HepG2	liver
22	chr7:121951000-121952000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:121951000-121952200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr7:121951000-121952200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr7:121951000-121952200	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr7:121951000-121952400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr7:121951000-121952400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr7:121951000-121952600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr7:121951200-121951600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr7:121951200-121951600	Weak transcription	Pancreas	Pancrea
31	chr7:121951200-121951600	Weak transcription	Right Atrium	heart
32	chr7:121951200-121952000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:121951200-121952200	Bivalent Enhancer	Fetal Heart	heart
34	chr7:121951400-121951600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:121951400-121951600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:121951400-121951600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr7:121951400-121951800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:121951400-121951800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr7:121951400-121952200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:121951400-121952400	Bivalent Enhancer	Fetal Brain Male	brain

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