Variant report

Variant	rs529967983
Chromosome Location	chr5:116790671-116790672
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:132)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:132 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:116790370-116790745	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr5:116790378-116790747	IMR90	lung:	n/a	n/a
3	ZNF263	chr5:116790341-116791616	HEK293-T-REx	kidney:	n/a	n/a
4	ZNF143	chr5:116790366-116790965	H1-hESC	embryonic stem cell:	n/a	n/a
5	RCOR1	chr5:116790511-116790719	GM12878	blood:	n/a	n/a
6	CTCF	chr5:116790415-116790753	K562	blood:	n/a	n/a
7	CTCF	chr5:116790457-116790831	MCF-7	breast:	n/a	n/a
8	NRF1	chr5:116790574-116790707	GM12878	blood:	n/a	n/a
9	SMC3	chr5:116790392-116790884	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr5:116790423-116790712	Pancreas_OC	pancreas:	n/a	n/a
11	CTCF	chr5:116790293-116790872	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr5:116790422-116790715	K562	blood:	n/a	n/a
13	CTCF	chr5:116790600-116790750	HAc	cerebellar:	n/a	n/a
14	CTCF	chr5:116790414-116790720	GM10266	blood:	n/a	n/a
15	RAD21	chr5:116790407-116790719	SK-N-SH_RA	brain:	n/a	n/a
16	SIN3AK20	chr5:116790355-116791933	MCF-7	breast:	n/a	n/a
17	CTCF	chr5:116790396-116790726	GM13977	blood:	n/a	n/a
18	CTCF	chr5:116790410-116790922	GM12892	blood:	n/a	n/a
19	CTCF	chr5:116790433-116790873	MCF-7	breast:	n/a	n/a
20	BRCA1	chr5:116790545-116790805	GM12878	blood:	n/a	n/a
21	ESR1	chr5:116790494-116790883	T-47D	breast:	n/a	n/a
22	SMC3	chr5:116790396-116790855	GM12878	blood:	n/a	n/a
23	CTCF	chr5:116790444-116790734	Kidney_OC	kidney:	n/a	n/a
24	MYC	chr5:116790389-116791797	MCF-7	breast:	n/a	n/a
25	CTCF	chr5:116790660-116790810	A549	lung:	n/a	n/a
26	RAD21	chr5:116790394-116790768	HepG2	liver:	n/a	n/a
27	RAD21	chr5:116790361-116790761	GM12878	blood:	n/a	n/a
28	BCLAF1	chr5:116790375-116790729	GM12878	blood:	n/a	n/a
29	RAD21	chr5:116790377-116790794	IMR90	lung:	n/a	n/a
30	BHLHE40	chr5:116790303-116790723	GM12878	blood:	n/a	n/a
31	CTCF	chr5:116790405-116790922	GM19238	blood:	n/a	n/a
32	RAD21	chr5:116790359-116790877	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr5:116790481-116791900	MCF-7	breast:	n/a	n/a
34	CTCF	chr5:116790433-116790757	MCF-7	breast:	n/a	n/a
35	CTCF	chr5:116790446-116790710	HepG2	liver:	n/a	n/a
36	CTCF	chr5:116790436-116790711	GM12891	blood:	n/a	n/a
37	WRNIP1	chr5:116790419-116791009	GM12878	blood:	n/a	n/a
38	CTCF	chr5:116790540-116790690	GM12874	blood:	n/a	n/a
39	TEAD4	chr5:116790428-116790858	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr5:116790427-116790906	GM19240	blood:	n/a	n/a
41	RAD21	chr5:116790450-116790701	K562	blood:	n/a	n/a
42	CTCF	chr5:116790238-116790889	HCT-116	colon:	n/a	n/a
43	CTCF	chr5:116790408-116790874	Gliobla	brain:	n/a	n/a
44	CTCF	chr5:116790371-116790743	K562	blood:	n/a	n/a
45	MAX	chr5:116790281-116790938	ECC-1	luminal epithelium:	n/a	n/a
46	PML	chr5:116790448-116791202	MCF-7	breast:	n/a	n/a
47	BHLHE40	chr5:116790388-116790722	K562	blood:	n/a	n/a
48	GTF2F1	chr5:116790565-116790677	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr5:116790470-116791049	MCF-7	breast:	n/a	n/a
50	MXI1	chr5:116790459-116790703	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:116654194..116654786-chr5:116790174..116790911,2	MCF-7	breast:

No data

Variant related genes	Relation type
LINC00992	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	nsv830457	chr5:116724777-116875060	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv882756	chr5:116783660-116905052	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116790400-116790800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:116790400-116790800	Active TSS	Brain Substantia Nigra	brain
3	chr5:116790400-116791000	Enhancers	Ovary	ovary
4	chr5:116790400-116791200	Active TSS	Fetal Kidney	kidney
5	chr5:116790400-116791600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:116790400-116791800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr5:116790400-116792000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr5:116790600-116790800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:116790600-116790800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
10	chr5:116790600-116790800	Enhancers	Lung	lung
11	chr5:116790600-116790800	Weak transcription	Right Atrium	heart
12	chr5:116790600-116790800	Active TSS	GM12878-XiMat	blood
13	chr5:116790600-116791000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr5:116790600-116791000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:116790600-116791000	Active TSS	Primary B cells from cord blood	blood
16	chr5:116790600-116791000	Active TSS	Primary T cells from cord blood	blood
17	chr5:116790600-116791000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:116790600-116791000	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr5:116790600-116791000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr5:116790600-116791000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr5:116790600-116791000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:116790600-116791000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr5:116790600-116791000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr5:116790600-116791000	Flanking Active TSS	Esophagus	oesophagus
25	chr5:116790600-116791000	Active TSS	Fetal Heart	heart
26	chr5:116790600-116791000	Active TSS	Fetal Lung	lung
27	chr5:116790600-116791000	Active TSS	Pancreas	Pancrea
28	chr5:116790600-116791000	Active TSS	Stomach Smooth Muscle	stomach
29	chr5:116790600-116791000	Active TSS	Spleen	Spleen
30	chr5:116790600-116791000	Flanking Active TSS	HepG2	liver
31	chr5:116790600-116791200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:116790600-116791200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
33	chr5:116790600-116791200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:116790600-116791200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:116790600-116791200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr5:116790600-116791200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:116790600-116791200	Active TSS	Brain Angular Gyrus	brain
38	chr5:116790600-116791200	Active TSS	Fetal Thymus	thymus
39	chr5:116790600-116791200	Active TSS	Placenta Amnion	Placenta Amnion
40	chr5:116790600-116791400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr5:116790600-116791400	Active TSS	H1 Cell Line	embryonic stem cell
42	chr5:116790600-116791400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:116790600-116791400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:116790600-116791400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr5:116790600-116791400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:116790600-116791400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:116790600-116791400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:116790600-116791400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:116790600-116791400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr5:116790600-116791400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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