Variant report

Variant	rs371182692
Chromosome Location	chr7:121950851-121950852
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	TEAD4	chr7:121950629-121951065	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr7:121950639-121950977	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr7:121950185-121951225	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:121949496-121954156	SK-N-MC	brain:	n/a	n/a
5	HDAC2	chr7:121950707-121950958	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUN	chr7:121950769-121951188	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr7:121950612-121950937	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr7:121950585-121951055	H1-hESC	embryonic stem cell:	n/a	chr7:121950655-121950669 chr7:121950652-121950666
9	GTF2F1	chr7:121950691-121950891	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:121950731-121951868	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr7:121950205-121951238	H1-hESC	embryonic stem cell:	n/a	n/a
12	SP4	chr7:121950505-121951045	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr7:121950643-121951014	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr7:121950655-121950954	H1-hESC	embryonic stem cell:	n/a	n/a
15	EP300	chr7:121950618-121951010	H1-hESC	embryonic stem cell:	n/a	chr7:121950897-121950906 chr7:121950652-121950668
16	CTCF	chr7:121950820-121950970	HBMEC	blood vessel:	n/a	chr7:121950889-121950905
17	RAD21	chr7:121950285-121951060	H1-hESC	embryonic stem cell:	n/a	chr7:121950336-121950346 chr7:121950342-121950355
18	MXI1	chr7:121950412-121951166	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD1	chr7:121950056-121951096	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr7:121950428-121951107	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr7:121950800-121950950	HA-sp	spinal cord:	n/a	chr7:121950889-121950905
22	TBP	chr7:121950365-121951016	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZNF143	chr7:121950439-121951026	H1-hESC	embryonic stem cell:	n/a	chr7:121950620-121950638 chr7:121950652-121950662 chr7:121950897-121950907
24	TCF12	chr7:121950721-121950958	H1-hESC	embryonic stem cell:	n/a	chr7:121950764-121950774
25	MAX	chr7:121950598-121951073	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr7:121950822-121950925	H1-hESC	embryonic stem cell:	n/a	chr7:121950889-121950905
27	POLR2A	chr7:121950613-121950895	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr7:121950743-121950984	H1-hESC	embryonic stem cell:	n/a	n/a
29	NANOG	chr7:121950620-121950932	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUND	chr7:121950583-121951006	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr7:121950804-121951072	H1-hESC	embryonic stem cell:	n/a	chr7:121950889-121950905
32	SIN3AK20	chr7:121950128-121950968	H1-hESC	embryonic stem cell:	n/a	n/a
33	SIN3A	chr7:121948850-121951494	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr7:121950130-121951108	H1-hESC	embryonic stem cell:	n/a	chr7:121950336-121950346 chr7:121950342-121950355
35	EGR1	chr7:121950559-121951016	H1-hESC	embryonic stem cell:	n/a	chr7:121950894-121950904 chr7:121950892-121950905
36	JUND	chr7:121950746-121950897	H1-hESC	embryonic stem cell:	n/a	n/a
37	TCF12	chr7:121950690-121950951	H1-hESC	embryonic stem cell:	n/a	chr7:121950764-121950774
38	RAD21	chr7:121950548-121951053	H1-hESC	embryonic stem cell:	n/a	n/a
39	TEAD4	chr7:121950634-121951016	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr7:121950563-121951752	H1-hESC	embryonic stem cell:	n/a	chr7:121950655-121950669 chr7:121950652-121950666

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

Variant related genes	Relation type
FEZF1	TF binding region
ENSG00000128610	Chromatin interaction
ENSG00000230316	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	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121940000-121951000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:121946600-121951000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:121947400-121951200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:121949400-121952200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
5	chr7:121949800-121951200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:121950000-121951000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:121950000-121951000	Bivalent/Poised TSS	HSMM	muscle
8	chr7:121950000-121951000	Flanking Bivalent TSS/Enh	NH-A	brain
9	chr7:121950000-121951000	Bivalent/Poised TSS	NHDF-Ad	bronchial
10	chr7:121950000-121951000	Bivalent/Poised TSS	Osteobl	bone
11	chr7:121950000-121952200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:121950000-121952200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr7:121950000-121952200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:121950000-121952400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:121950200-121951000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr7:121950200-121951000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:121950200-121951000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:121950200-121951000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:121950200-121951000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr7:121950200-121951000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr7:121950200-121951000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr7:121950200-121951000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:121950200-121951000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:121950200-121951000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr7:121950200-121951000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:121950200-121951000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:121950200-121951000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:121950200-121951000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:121950200-121951000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
30	chr7:121950200-121951000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:121950200-121951000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
32	chr7:121950200-121951000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
33	chr7:121950200-121951000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
34	chr7:121950200-121951000	Bivalent/Poised TSS	Psoas Muscle	Psoas
35	chr7:121950200-121951000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
36	chr7:121950200-121951000	Flanking Active TSS	Right Atrium	heart
37	chr7:121950200-121951000	Bivalent/Poised TSS	NHLF	lung
38	chr7:121950200-121951600	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr7:121950200-121952200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr7:121950200-121952200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:121950400-121951000	Bivalent/Poised TSS	Brain Angular Gyrus	brain
42	chr7:121950400-121951000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
43	chr7:121950400-121951000	Flanking Active TSS	Ovary	ovary
44	chr7:121950400-121951000	Bivalent/Poised TSS	Thymus	Thymus
45	chr7:121950400-121952000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr7:121950400-121952200	Bivalent Enhancer	Spleen	Spleen
47	chr7:121950600-121951000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
48	chr7:121950600-121951000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
49	chr7:121950600-121951000	Bivalent Enhancer	Liver	Liver
50	chr7:121950600-121951000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain

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