Variant report

Variant	rs117507244
Chromosome Location	chr4:699173-699174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr4:699153-699465	K562	blood:	n/a	n/a
2	CHD2	chr4:699024-699441	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr4:698971-699845	HepG2	liver:	n/a	n/a
4	CEBPB	chr4:698750-699349	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:699161-699465	HCT-116	colon:	n/a	n/a
6	CHD2	chr4:699122-699862	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr4:698708-699492	K562	blood:	n/a	n/a
8	TBL1XR1	chr4:699048-699206	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:699165-699469	ECC-1	luminal epithelium:	n/a	n/a
10	MAZ	chr4:698853-700085	IMR90	lung:	n/a	n/a
11	MAX	chr4:699134-700010	ECC-1	luminal epithelium:	n/a	n/a
12	HEY1	chr4:699086-699909	HepG2	liver:	n/a	n/a
13	MTA3	chr4:698814-699439	GM12878	blood:	n/a	n/a
14	TAF1	chr4:699159-699411	K562	blood:	n/a	n/a
15	POLR2A	chr4:699127-699858	K562	blood:	n/a	n/a
16	MYC	chr4:699149-699835	K562	blood:	n/a	n/a
17	POLR2A	chr4:699068-700342	HepG2	liver:	n/a	n/a
18	POLR2A	chr4:699170-699463	HepG2	liver:	n/a	n/a
19	NRF1	chr4:699134-699763	GM12878	blood:	n/a	chr4:699567-699578
20	SP4	chr4:699165-699783	H1-hESC	embryonic stem cell:	n/a	n/a
21	TBP	chr4:699159-699860	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr4:699118-699837	MCF10A-Er-Src	breast:	n/a	n/a
23	TCF12	chr4:699110-700054	ECC-1	luminal epithelium:	n/a	n/a
24	ZBTB7A	chr4:699094-700426	ECC-1	luminal epithelium:	n/a	n/a
25	SP1	chr4:699010-699702	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:699149-699842	HepG2	liver:	n/a	n/a
27	MAZ	chr4:699152-700033	GM12878	blood:	n/a	n/a
28	HDAC2	chr4:699002-699218	K562	blood:	n/a	n/a
29	MXI1	chr4:698850-700086	IMR90	lung:	n/a	n/a
30	MAX	chr4:699120-699842	GM12878	blood:	n/a	n/a
31	HCFC1	chr4:699126-700093	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr4:699046-699478	GM12892	blood:	n/a	n/a
33	POLR2A	chr4:698982-699882	PBDE	blood:	n/a	n/a
34	POLR2A	chr4:698649-699309	GM12892	blood:	n/a	n/a
35	MAX	chr4:699119-699999	K562	blood:	n/a	n/a
36	POLR2A	chr4:699151-700881	A549	lung:	n/a	n/a
37	ZBTB7A	chr4:699111-699230	HepG2	liver:	n/a	n/a
38	YY1	chr4:699141-700070	HepG2	liver:	n/a	chr4:699782-699796 chr4:699809-699823
39	POLR2A	chr4:699132-699924	GM18526	blood:	n/a	n/a
40	POLR2A	chr4:699077-699448	K562	blood:	n/a	n/a
41	POLR2A	chr4:699129-699836	K562	blood:	n/a	n/a
42	YY1	chr4:699167-699477	K562	blood:	n/a	n/a
43	ZBTB7A	chr4:698405-700314	K562	blood:	n/a	n/a
44	MAX	chr4:699129-700013	A549	lung:	n/a	n/a
45	GTF2F1	chr4:699054-699409	K562	blood:	n/a	n/a
46	POLR2A	chr4:699153-699465	HepG2	liver:	n/a	n/a
47	POLR2A	chr4:699160-699851	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr4:699136-700054	Hela-S3	cervix:	n/a	n/a
49	JUND	chr4:699084-699838	K562	blood:	n/a	n/a
50	POLR2A	chr4:699145-699936	GM19099	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:694824..697589-chr4:697861..699485,2	K562	blood:
2	chr4:697549..703820-chr4:770860..775722,9	K562	blood:
3	chr4:673479..675144-chr4:696764..699498,2	K562	blood:
4	chr17:73773135..73777353-chr4:698527..702357,3	MCF-7	breast:
5	chr4:672883..676399-chr4:697081..701106,5	MCF-7	breast:
6	chr4:666292..671732-chr4:694079..701503,8	MCF-7	breast:
7	chr4:681693..683683-chr4:698278..699853,2	K562	blood:
8	chr4:666295..671517-chr4:698228..703248,8	MCF-7	breast:
9	chr4:680242..683670-chr4:697022..701034,8	MCF-7	breast:
10	chr4:681383..683193-chr4:698223..700658,3	K562	blood:
11	chr4:666011..668174-chr4:698640..701171,3	K562	blood:

No data

Variant related genes	Relation type
PCGF3	TF binding region
ENSG00000215375	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000169026	Chromatin interaction
ENSG00000249592	Chromatin interaction
ENSG00000169020	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv593209	chr4:686563-747810	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv870115	chr4:692811-733794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv10414	chr4:696527-701955	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	esv3323850	chr4:698477-701325	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	nsv822426	chr4:698559-700452	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	esv3378645	chr4:698602-700850	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:698600-699200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr4:698600-699600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:698600-700200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr4:698600-700600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:698800-699200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr4:698800-699200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:698800-699200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:698800-699200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:698800-699200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:698800-699200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:698800-699200	Enhancers	Fetal Heart	heart
12	chr4:698800-699400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr4:698800-699400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr4:698800-699400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr4:698800-699400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr4:698800-699400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:698800-699400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr4:698800-699400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:698800-699400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr4:698800-699400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr4:698800-699400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr4:698800-699400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:698800-699400	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr4:698800-699400	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr4:698800-699400	Flanking Active TSS	Dnd41	blood
26	chr4:698800-699400	Flanking Active TSS	Hela-S3	cervix
27	chr4:698800-699400	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr4:698800-699400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr4:698800-700600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:698800-700600	Active TSS	Brain Substantia Nigra	brain
31	chr4:698800-700600	Active TSS	Rectal Smooth Muscle	rectum
32	chr4:698800-701000	Active TSS	Fetal Kidney	kidney
33	chr4:699000-699200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
34	chr4:699000-699200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr4:699000-699200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
36	chr4:699000-699200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:699000-699200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr4:699000-699200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr4:699000-699200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:699000-699200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr4:699000-699200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
42	chr4:699000-699200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr4:699000-699200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:699000-699200	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr4:699000-699200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr4:699000-699200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:699000-699200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr4:699000-699200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr4:699000-699200	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr4:699000-699200	Flanking Active TSS	Esophagus	oesophagus

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