Variant report

Variant	rs554226077
Chromosome Location	chr4:670173-670174
allele	A/G
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	ATF2	chr4:669990-670459	GM12878	blood:	n/a	n/a
2	CTCF	chr4:670120-670270	GM12867	blood:	n/a	n/a
3	POU2F2	chr4:670045-670446	GM12891	blood:	n/a	n/a
4	TCF12	chr4:670073-670494	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:667917-670486	GM12891	blood:	n/a	n/a
6	POLR2A	chr4:667464-672151	GM12878	blood:	n/a	n/a
7	BCLAF1	chr4:669676-670454	GM12878	blood:	n/a	n/a
8	YY1	chr4:670018-670328	GM12891	blood:	n/a	n/a
9	POLR2A	chr4:667656-672822	GM19099	blood:	n/a	n/a
10	POLR2A	chr4:667899-673815	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr4:670030-671393	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:668697-671413	GM12891	blood:	n/a	n/a
13	STAT1	chr4:669813-670404	GM12878	blood:	n/a	n/a
14	ZNF143	chr4:669798-670706	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:667894-670508	GM12892	blood:	n/a	n/a
16	POLR2A	chr4:667908-672199	GM12878	blood:	n/a	n/a
17	YY1	chr4:669792-670362	GM12878	blood:	n/a	n/a
18	SIN3A	chr4:669844-670237	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr4:667840-672164	SK-N-MC	brain:	n/a	n/a
20	TBP	chr4:669880-670380	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:670090-670563	GM12891	blood:	n/a	n/a
22	CTCF	chr4:670100-670250	GM06990	blood:	n/a	n/a
23	MXI1	chr4:669464-670346	GM12878	blood:	n/a	n/a
24	MYC	chr4:670107-670452	NB4	blood:	n/a	n/a
25	POLR2A	chr4:669596-670848	HepG2	liver:	n/a	n/a
26	CTCF	chr4:670160-670310	GM12868	blood:	n/a	chr4:670289-670302
27	RELA	chr4:669600-670482	GM19193	blood:	n/a	n/a
28	USF2	chr4:669680-670761	GM12878	blood:	n/a	n/a
29	SMC3	chr4:670024-670181	GM12878	blood:	n/a	n/a
30	CTCF	chr4:670100-670250	GM12865	blood:	n/a	n/a
31	POLR2A	chr4:669705-672344	ECC-1	luminal epithelium:	n/a	n/a
32	CUX1	chr4:669811-670390	GM12878	blood:	n/a	n/a
33	EBF1	chr4:669615-670857	GM12878	blood:	n/a	chr4:670830-670839 chr4:670724-670734
34	RELA	chr4:669856-670371	GM10847	blood:	n/a	n/a
35	ZEB1	chr4:669693-670300	GM12878	blood:	n/a	n/a
36	TCF3	chr4:670029-670949	GM12878	blood:	n/a	chr4:670900-670910 chr4:670842-670855 chr4:670795-670808 chr4:670838-670852 chr4:670793-670803
37	POLR2A	chr4:667634-670413	MCF10A-Er-Src	breast:	n/a	n/a
38	MTA3	chr4:667832-670995	GM12878	blood:	n/a	n/a
39	FOXM1	chr4:669787-670502	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:667552-670868	GM12892	blood:	n/a	n/a
41	CTCF	chr4:670060-670210	GM12865	blood:	n/a	n/a
42	POLR2A	chr4:670124-670359	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr4:670102-670825	K562	blood:	n/a	n/a
44	PAX5	chr4:670023-670888	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:667550-672298	GM15510	blood:	n/a	n/a
46	ELK1	chr4:669913-670334	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:667573-670806	GM18526	blood:	n/a	n/a
48	RELA	chr4:669588-670365	GM15510	blood:	n/a	n/a
49	CTCF	chr4:670120-670270	GM12872	blood:	n/a	n/a
50	CTCF	chr4:670040-670190	GM12866	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:666295..671517-chr4:698228..703248,8	MCF-7	breast:
2	chr4:669988..672792-chr4:681146..683044,2	K562	blood:
3	chr4:666044..670200-chr4:772961..777371,6	K562	blood:
4	chr4:666292..671732-chr4:694079..701503,8	MCF-7	breast:
5	chr4:493062..494777-chr4:668037..670861,2	MCF-7	breast:
6	chr4:668293..670393-chr4:1005599..1007949,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE6B-2	chr4:668129-671710	NONHSAT094599
2	lnc-PDE6B-2	chr4:669862-670270	NONHSAT094600

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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
22	nsv878251	chr4:669857-683842	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv878252	chr4:669857-685993	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:667400-670200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:668600-670800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr4:668800-670200	Flanking Active TSS	Fetal Muscle Leg	muscle
4	chr4:668800-670600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:668800-670800	Flanking Active TSS	GM12878-XiMat	blood
6	chr4:668800-671200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr4:668800-674400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:669000-670400	Flanking Active TSS	HSMM	muscle
9	chr4:669000-672200	Enhancers	Spleen	Spleen
10	chr4:669200-670600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:669200-670800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:669200-671000	Enhancers	Fetal Heart	heart
13	chr4:669200-671000	Enhancers	Fetal Thymus	thymus
14	chr4:669200-671200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr4:669200-671400	Enhancers	Primary B cells from peripheral blood	blood
16	chr4:669200-672000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:669200-672600	Enhancers	Esophagus	oesophagus
18	chr4:669200-672600	Enhancers	Fetal Intestine Large	intestine
19	chr4:669200-673000	Enhancers	Pancreas	Pancrea
20	chr4:669200-674200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:669200-674400	Weak transcription	Fetal Lung	lung
22	chr4:669400-670200	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr4:669400-670200	Genic enhancers	Fetal Stomach	stomach
24	chr4:669400-670400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:669400-670400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:669400-670400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr4:669400-670400	Enhancers	HSMMtube	muscle
28	chr4:669400-670600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:669400-670600	Genic enhancers	Fetal Intestine Small	intestine
30	chr4:669400-670600	Enhancers	K562	blood
31	chr4:669400-671000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr4:669400-671200	Enhancers	Primary B cells from cord blood	blood
33	chr4:669400-671400	Enhancers	Psoas Muscle	Psoas
34	chr4:669400-672200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:669400-672800	Enhancers	Duodenum Mucosa	Duodenum
36	chr4:669400-674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:669400-674200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:669400-674200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr4:669400-674200	Weak transcription	NH-A	brain
40	chr4:669400-674400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:669400-674400	Weak transcription	Ovary	ovary
42	chr4:669400-674400	Weak transcription	Right Atrium	heart
43	chr4:669400-674600	Enhancers	Placenta	Placenta
44	chr4:669400-674600	Weak transcription	HUVEC	blood vessel
45	chr4:669600-670200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:669600-670200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:669600-670200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:669600-670200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:669600-670200	Enhancers	Stomach Mucosa	stomach
50	chr4:669600-670400	Enhancers	Stomach Smooth Muscle	stomach

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