Variant report

Variant	rs529164915
Chromosome Location	chr5:96272480-96272481
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:143)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:143 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr5:96272169-96272616	GM12878	blood:	n/a	n/a
2	ELK1	chr5:96272452-96272718	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:96272396-96272881	HepG2	liver:	n/a	n/a
4	POLR2A	chr5:96269126-96273104	GM12892	blood:	n/a	n/a
5	POLR2A	chr5:96268968-96273188	GM12878	blood:	n/a	n/a
6	CHD1	chr5:96267264-96273025	GM12878	blood:	n/a	n/a
7	ATF2	chr5:96272302-96272953	GM12878	blood:	n/a	n/a
8	MAZ	chr5:96272447-96272917	GM12878	blood:	n/a	n/a
9	SMC3	chr5:96272182-96272918	GM12878	blood:	n/a	n/a
10	MAX	chr5:96269837-96272676	A549	lung:	n/a	n/a
11	POLR2A	chr5:96269090-96273351	GM12878	blood:	n/a	n/a
12	PAX5	chr5:96272314-96272852	GM12878	blood:	n/a	n/a
13	EBF1	chr5:96272333-96272722	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:96269916-96272567	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr5:96270008-96272708	HCT-116	colon:	n/a	n/a
16	POLR2A	chr5:96269401-96273113	GM12892	blood:	n/a	n/a
17	POLR2A	chr5:96270061-96272661	K562	blood:	n/a	n/a
18	POLR2A	chr5:96270215-96272810	K562	blood:	n/a	n/a
19	POLR2A	chr5:96270253-96272920	HEK293	kidney:	n/a	n/a
20	STAT1	chr5:96272430-96273039	GM12878	blood:	n/a	n/a
21	SIN3AK20	chr5:96272365-96272735	PANC-1	pancreas:	n/a	n/a
22	MAX	chr5:96269961-96272816	HepG2	liver:	n/a	n/a
23	POLR2A	chr5:96267158-96273083	GM12878	blood:	n/a	n/a
24	NFIC	chr5:96272315-96272828	GM12878	blood:	n/a	n/a
25	RCOR1	chr5:96269667-96273127	IMR90	lung:	n/a	n/a
26	POLR2A	chr5:96269875-96272937	Hela-S3	cervix:	n/a	n/a
27	CCNT2	chr5:96270387-96272610	K562	blood:	n/a	chr5:96271598-96271607
28	MAZ	chr5:96269856-96273094	K562	blood:	n/a	n/a
29	ELK1	chr5:96272396-96272723	K562	blood:	n/a	n/a
30	POLR2A	chr5:96270101-96272825	GM10847	blood:	n/a	n/a
31	EP300	chr5:96272117-96272982	GM12878	blood:	n/a	n/a
32	SMARCB1	chr5:96270321-96272735	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr5:96270014-96272863	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr5:96269159-96273111	GM19099	blood:	n/a	n/a
35	POLR2A	chr5:96272258-96273068	GM12892	blood:	n/a	n/a
36	TCF12	chr5:96269736-96272517	A549	lung:	n/a	chr5:96271640-96271650
37	HA-E2F1	chr5:96270264-96272488	Hela-S3	cervix:	n/a	chr5:96271598-96271607
38	MYC	chr5:96269985-96272773	K562	blood:	n/a	n/a
39	MAX	chr5:96272361-96272833	GM12878	blood:	n/a	n/a
40	ZMIZ1	chr5:96272374-96272641	K562	blood:	n/a	n/a
41	STAT5A	chr5:96269487-96272938	GM12878	blood:	n/a	n/a
42	SIN3AK20	chr5:96269956-96272508	MCF-7	breast:	n/a	n/a
43	PAX5	chr5:96272323-96272784	GM12878	blood:	n/a	n/a
44	MAX	chr5:96269902-96272741	HCT-116	colon:	n/a	n/a
45	ELF1	chr5:96272198-96272738	GM12878	blood:	n/a	chr5:96272575-96272588
46	PAX5	chr5:96272415-96272711	GM12878	blood:	n/a	n/a
47	POLR2A	chr5:96269971-96272681	NB4	blood:	n/a	n/a
48	POLR2A	chr5:96270237-96272620	MCF-7	breast:	n/a	n/a
49	POLR2A	chr5:96272377-96273024	GM12878	blood:	n/a	n/a
50	ELF1	chr5:96269881-96272791	GM12878	blood:	n/a	chr5:96272575-96272588

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:96093022..96094716-chr5:96270503..96272835,2	MCF-7	breast:
2	chr5:96267069..96273023-chr5:96293959..96302488,9	K562	blood:
3	chr5:96140726..96144602-chr5:96269258..96273227,6	MCF-7	breast:
4	chr5:96270050..96274625-chr5:96293478..96297387,4	MCF-7	breast:
5	chr5:96038474..96039975-chr5:96271296..96273305,2	MCF-7	breast:
6	chr12:53294589..53297391-chr5:96270042..96272818,2	MCF-7	breast:
7	chr5:96140146..96144558-chr5:96269495..96273172,12	MCF-7	breast:
8	chr5:96268234..96272758-chr5:96290815..96294670,4	K562	blood:
9	chr5:96270007..96273203-chr5:96295277..96299165,4	K562	blood:
10	chr5:96272346..96274929-chr5:96377055..96379060,2	K562	blood:
11	chr5:96207193..96215079-chr5:96269183..96273335,11	MCF-7	breast:
12	chr5:96142546..96145890-chr5:96269908..96273049,5	K562	blood:
13	chr5:95992791..95994704-chr5:96271567..96273123,2	MCF-7	breast:
14	chr5:96141925..96145850-chr5:96265867..96272606,9	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LNPEP-1	chr5:96271698-96273470	NONHSAT102916

No data

Variant related genes	Relation type
ENSG00000247121	TF binding region
ENSG00000164307	Chromatin interaction
ENSG00000247121	Chromatin interaction
ENSG00000164308	Chromatin interaction
ENSG00000113441	Chromatin interaction
ENSG00000200884	Chromatin interaction
ENSG00000170421	Chromatin interaction
ENSG00000153113	Chromatin interaction
ENSG00000272109	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1027472	chr5:96081592-96337550	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv531967	chr5:96127842-96302702	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv819519	chr5:96271474-96272548	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96268200-96274000	Active TSS	GM12878-XiMat	blood
2	chr5:96268400-96272600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr5:96268400-96273400	Active TSS	Fetal Thymus	thymus
4	chr5:96268400-96273600	Active TSS	Thymus	Thymus
5	chr5:96269200-96273200	Active TSS	Right Atrium	heart
6	chr5:96269400-96273000	Active TSS	Right Ventricle	heart
7	chr5:96269400-96273600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:96269600-96272600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:96269600-96273000	Active TSS	Brain Angular Gyrus	brain
10	chr5:96269600-96273000	Active TSS	Colonic Mucosa	Colon
11	chr5:96269600-96273800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:96269800-96272600	Active TSS	Fetal Brain Female	brain
13	chr5:96269800-96273000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:96269800-96273000	Active TSS	Aorta	Aorta
15	chr5:96269800-96273000	Active TSS	Brain Anterior Caudate	brain
16	chr5:96269800-96273000	Active TSS	Fetal Muscle Trunk	muscle
17	chr5:96269800-96273000	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr5:96269800-96273200	Active TSS	Stomach Smooth Muscle	stomach
19	chr5:96269800-96273600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr5:96270000-96272600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr5:96270000-96272600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:96270000-96272600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:96270000-96272600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:96270000-96272600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr5:96270000-96272600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr5:96270000-96272600	Active TSS	Fetal Intestine Large	intestine
27	chr5:96270000-96272600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr5:96270000-96272600	Active TSS	Dnd41	blood
29	chr5:96270000-96272800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr5:96270000-96272800	Active TSS	Esophagus	oesophagus
31	chr5:96270000-96272800	Active TSS	Fetal Stomach	stomach
32	chr5:96270000-96272800	Active TSS	Placenta Amnion	Placenta Amnion
33	chr5:96270000-96272800	Active TSS	Small Intestine	intestine
34	chr5:96270000-96272800	Active TSS	A549	lung
35	chr5:96270000-96273000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:96270000-96273000	Active TSS	Left Ventricle	heart
37	chr5:96270000-96273000	Active TSS	Lung	lung
38	chr5:96270000-96273000	Active TSS	Ovary	ovary
39	chr5:96270000-96273000	Active TSS	Pancreas	Pancrea
40	chr5:96270000-96273000	Active TSS	Psoas Muscle	Psoas
41	chr5:96270000-96273200	Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr5:96270200-96272600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:96270200-96272600	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr5:96270200-96272600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr5:96270200-96272600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr5:96270200-96272600	Active TSS	Brain Hippocampus Middle	brain
47	chr5:96270200-96272600	Active TSS	Duodenum Mucosa	Duodenum
48	chr5:96270200-96272600	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr5:96270200-96272600	Active TSS	Hela-S3	cervix
50	chr5:96270200-96272600	Active TSS	HSMM	muscle

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