Variant report

Variant	rs191576027
Chromosome Location	chr5:116790429-116790430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

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	CTCF	chr5:116790415-116790753	K562	blood:	n/a	n/a
6	SMC3	chr5:116790392-116790884	SK-N-SH	brain:	n/a	n/a
7	CTCF	chr5:116790423-116790712	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr5:116790293-116790872	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr5:116790316-116790667	A549	lung:	n/a	n/a
10	CTCF	chr5:116790422-116790715	K562	blood:	n/a	n/a
11	CTCF	chr5:116790414-116790720	GM10266	blood:	n/a	n/a
12	RAD21	chr5:116790407-116790719	SK-N-SH_RA	brain:	n/a	n/a
13	SIN3AK20	chr5:116790355-116791933	MCF-7	breast:	n/a	n/a
14	CTCF	chr5:116790396-116790726	GM13977	blood:	n/a	n/a
15	CTCF	chr5:116790410-116790922	GM12892	blood:	n/a	n/a
16	SMC3	chr5:116790396-116790855	GM12878	blood:	n/a	n/a
17	MYC	chr5:116790389-116791797	MCF-7	breast:	n/a	n/a
18	RAD21	chr5:116790394-116790768	HepG2	liver:	n/a	n/a
19	RAD21	chr5:116790361-116790761	GM12878	blood:	n/a	n/a
20	BCLAF1	chr5:116790375-116790729	GM12878	blood:	n/a	n/a
21	RAD21	chr5:116790377-116790794	IMR90	lung:	n/a	n/a
22	BHLHE40	chr5:116790303-116790723	GM12878	blood:	n/a	n/a
23	CTCF	chr5:116790405-116790922	GM19238	blood:	n/a	n/a
24	RAD21	chr5:116790359-116790877	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr5:116790423-116790659	HepG2	liver:	n/a	n/a
26	WRNIP1	chr5:116790419-116791009	GM12878	blood:	n/a	n/a
27	TEAD4	chr5:116790428-116790858	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr5:116790427-116790906	GM19240	blood:	n/a	n/a
29	CTCF	chr5:116790238-116790889	HCT-116	colon:	n/a	n/a
30	CTCF	chr5:116790408-116790874	Gliobla	brain:	n/a	n/a
31	CTCF	chr5:116790371-116790743	K562	blood:	n/a	n/a
32	MAX	chr5:116790281-116790938	ECC-1	luminal epithelium:	n/a	n/a
33	BHLHE40	chr5:116790388-116790722	K562	blood:	n/a	n/a
34	ELF1	chr5:116790358-116791732	MCF-7	breast:	n/a	n/a
35	RAD21	chr5:116790382-116790812	SK-N-SH_RA	brain:	n/a	n/a
36	RAD21	chr5:116790275-116790866	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr5:116790420-116790732	T-47D	breast:	n/a	n/a
38	TAF1	chr5:116790365-116791298	MCF-7	breast:	n/a	n/a
39	CTCF	chr5:116790287-116790882	MCF-7	breast:	n/a	n/a
40	RAD21	chr5:116790371-116790830	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr5:116790422-116790745	LNCaP	prostate:	n/a	n/a
42	CTCF	chr5:116790410-116790725	A549	lung:	n/a	n/a
43	CTCF	chr5:116790331-116790718	H1-hESC	embryonic stem cell:	n/a	n/a
44	CBX3	chr5:116790271-116791689	HCT-116	colon:	n/a	n/a
45	MAX	chr5:116790352-116790643	H1-hESC	embryonic stem cell:	n/a	n/a
46	GATA3	chr5:116790308-116790872	T-47D	breast:	n/a	n/a
47	RAD21	chr5:116790408-116790740	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr5:116790349-116790716	ECC-1	luminal epithelium:	n/a	n/a
49	CTCF	chr5:116790420-116790729	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:116790232-116790914	A549	lung:	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116790400-116790600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:116790400-116790600	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:116790400-116790600	Active TSS	Primary hematopoietic stem cells	blood
4	chr5:116790400-116790600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr5:116790400-116790600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:116790400-116790600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:116790400-116790600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr5:116790400-116790600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:116790400-116790600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:116790400-116790600	Enhancers	Esophagus	oesophagus
11	chr5:116790400-116790600	Enhancers	Placenta	Placenta
12	chr5:116790400-116790600	Enhancers	HepG2	liver
13	chr5:116790400-116790800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:116790400-116790800	Active TSS	Brain Substantia Nigra	brain
15	chr5:116790400-116791000	Enhancers	Ovary	ovary
16	chr5:116790400-116791200	Active TSS	Fetal Kidney	kidney
17	chr5:116790400-116791600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr5:116790400-116791800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr5:116790400-116792000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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