Variant report

Variant	rs554758654
Chromosome Location	chr4:669010-669011
allele	A/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	POLR2A	chr4:667013-669535	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr4:668964-669124	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr4:669000-669150	GM12867	blood:	n/a	n/a
4	POLR2A	chr4:668841-669571	HepG2	liver:	n/a	n/a
5	MXI1	chr4:667929-669271	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:667072-669901	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:667917-670486	GM12891	blood:	n/a	n/a
8	RUNX3	chr4:668677-669062	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:667464-672151	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:668950-669229	K562	blood:	n/a	n/a
11	POLR2A	chr4:667480-669063	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr4:667656-672822	GM19099	blood:	n/a	n/a
13	HCFC1	chr4:667501-669103	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr4:667899-673815	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr4:668977-669313	K562	blood:	n/a	n/a
16	POLR2A	chr4:667545-669818	NB4	blood:	n/a	n/a
17	POLR2A	chr4:667036-669605	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr4:668697-671413	GM12891	blood:	n/a	n/a
19	POLR2A	chr4:667894-670508	GM12892	blood:	n/a	n/a
20	POLR2A	chr4:667908-672199	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:668909-669298	HepG2	liver:	n/a	n/a
22	POLR2A	chr4:667906-669864	HCT-116	colon:	n/a	n/a
23	YY1	chr4:668958-669239	GM12891	blood:	n/a	chr4:669021-669032
24	POLR2A	chr4:668780-669707	HCT-116	colon:	n/a	n/a
25	BHLHE40	chr4:668980-669273	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:668745-669017	GM12878	blood:	n/a	n/a
27	POLR2A	chr4:667863-669691	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:667840-672164	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr4:667118-669869	HepG2	liver:	n/a	n/a
30	POLR2A	chr4:667917-669246	HL-60	blood:	n/a	n/a
31	MYC	chr4:667493-669112	K562	blood:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
32	POLR2A	chr4:668796-669124	MCF-7	breast:	n/a	n/a
33	CEBPB	chr4:668970-669347	HepG2	liver:	n/a	n/a
34	POLR2A	chr4:668910-669318	HepG2	liver:	n/a	n/a
35	MYC	chr4:667867-669142	A549	lung:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
36	POLR2A	chr4:666971-670146	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr4:667057-669372	A549	lung:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
38	MAX	chr4:667020-669306	K562	blood:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
39	UBTF	chr4:668013-669061	K562	blood:	n/a	n/a
40	POLR2A	chr4:667184-669475	Hela-S3	cervix:	n/a	n/a
41	YY1	chr4:668926-669249	GM12878	blood:	n/a	chr4:669021-669032
42	NRF1	chr4:667940-669132	SK-N-SH	brain:	n/a	chr4:668135-668144 chr4:668168-668177 chr4:668274-668288 chr4:668276-668285 chr4:668229-668240 chr4:668229-668243 chr4:668133-668144 chr4:668133-668147 chr4:668133-668144 chr4:668274-668285 chr4:668271-668285 chr4:668315-668324
43	POLR2A	chr4:668942-669066	A549	lung:	n/a	n/a
44	MAX	chr4:667484-669325	NB4	blood:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
45	MAX	chr4:668975-669302	HepG2	liver:	n/a	n/a
46	POLR2A	chr4:667634-670413	MCF10A-Er-Src	breast:	n/a	n/a
47	MTA3	chr4:667832-670995	GM12878	blood:	n/a	n/a
48	CREB1	chr4:667033-669390	HepG2	liver:	n/a	chr4:668213-668226
49	HEY1	chr4:668955-669230	HepG2	liver:	n/a	n/a
50	MAZ	chr4:667938-669181	GM12878	blood:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238

No.	Distal block	Cell Line	Cell type
1	chr4:666295..671517-chr4:698228..703248,8	MCF-7	breast:
2	chr4:666044..670200-chr4:772961..777371,6	K562	blood:
3	chr4:665676..669905-chr4:679525..682855,5	K562	blood:
4	chr4:668037..669791-chr4:1002295..1005526,3	MCF-7	breast:
5	chr4:666292..671732-chr4:694079..701503,8	MCF-7	breast:
6	chr4:493062..494777-chr4:668037..670861,2	MCF-7	breast:
7	chr4:668293..670393-chr4:1005599..1007949,2	K562	blood:
8	chr17:62831703..62834529-chr4:666982..669061,2	MCF-7	breast:
9	chr4:667692..669687-chr4:985576..987160,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE6B-2	chr4:668129-671710	NONHSAT094599

Variant related genes	Relation type
ATP5I	TF binding region
MYL5	TF binding region
ENSG00000185619	Chromatin interaction
ENSG00000127415	Chromatin interaction
ENSG00000127418	Chromatin interaction
ENSG00000169026	Chromatin interaction
ENSG00000174227	Chromatin interaction
ENSG00000214176	Chromatin interaction
ENSG00000249592	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 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	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	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
9	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	nsv878248	chr4:645300-685993	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv878249	chr4:649639-691026	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	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
18	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
19	nsv10413	chr4:667204-684301	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv593208	chr4:668000-682233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv878250	chr4:668567-683842	Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:667000-669200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:667000-669200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:667000-669600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:667200-669200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr4:667200-669200	Active TSS	NHLF	lung
6	chr4:667400-669200	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr4:667400-669200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr4:667400-669200	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr4:667400-669200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr4:667400-669200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:667400-669200	Active TSS	A549	lung
12	chr4:667400-669200	Active TSS	HepG2	liver
13	chr4:667400-669200	Active TSS	HSMMtube	muscle
14	chr4:667400-669200	Active TSS	NHDF-Ad	bronchial
15	chr4:667400-669400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr4:667400-669400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:667400-670200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:667600-669800	Active TSS	Hela-S3	cervix
19	chr4:668000-669200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:668400-669200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr4:668400-669400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr4:668400-669400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr4:668600-669200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr4:668600-669200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr4:668600-669200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr4:668600-669200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:668600-669200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:668600-669200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:668600-669200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr4:668600-669200	Flanking Active TSS	Thymus	Thymus
31	chr4:668600-669400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:668600-669400	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr4:668600-669400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr4:668600-669400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr4:668600-669400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:668600-669400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr4:668600-669400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
38	chr4:668600-669400	Flanking Active TSS	Placenta	Placenta
39	chr4:668600-669400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr4:668600-669600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:668600-669600	Enhancers	Fetal Brain Male	brain
42	chr4:668600-670800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr4:668800-669200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:668800-669200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:668800-669200	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr4:668800-669200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:668800-669200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr4:668800-669200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr4:668800-669200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr4:668800-669200	Flanking Active TSS	Esophagus	oesophagus

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