Variant report

Variant	rs534092242
Chromosome Location	chr4:668632-668633
allele	G/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	NFATC1	chr4:667932-668649	GM12878	blood:	n/a	n/a
3	RUNX3	chr4:667914-668672	GM12878	blood:	n/a	n/a
4	MXI1	chr4:667929-669271	HepG2	liver:	n/a	n/a
5	POLR2A	chr4:667072-669901	HepG2	liver:	n/a	n/a
6	MAX	chr4:667897-668743	SK-N-SH	brain:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
7	MAX	chr4:667944-668678	HepG2	liver:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
8	MAX	chr4:667917-668831	ECC-1	luminal epithelium:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
9	POLR2A	chr4:667917-670486	GM12891	blood:	n/a	n/a
10	MAX	chr4:667922-668696	ECC-1	luminal epithelium:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
11	POLR2A	chr4:667464-672151	GM12878	blood:	n/a	n/a
12	RELA	chr4:667947-668656	GM18526	blood:	n/a	n/a
13	HCFC1	chr4:667399-668658	K562	blood:	n/a	n/a
14	POLR2A	chr4:667480-669063	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr4:667656-672822	GM19099	blood:	n/a	n/a
16	JUN	chr4:667865-668883	K562	blood:	n/a	chr4:668162-668171 chr4:668215-668224 chr4:668211-668224
17	HCFC1	chr4:667501-669103	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr4:667899-673815	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr4:667866-668951	K562	blood:	n/a	n/a
20	POLR2A	chr4:667545-669818	NB4	blood:	n/a	n/a
21	POLR2A	chr4:667036-669605	H1-hESC	embryonic stem cell:	n/a	n/a
22	CCNT2	chr4:667956-668679	K562	blood:	n/a	n/a
23	ARID3A	chr4:668494-668678	HepG2	liver:	n/a	n/a
24	POLR2A	chr4:667894-670508	GM12892	blood:	n/a	n/a
25	CHD2	chr4:667926-668638	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:667908-672199	GM12878	blood:	n/a	n/a
27	PAX5	chr4:667957-668639	GM12892	blood:	n/a	chr4:668230-668239 chr4:668199-668208
28	MAX	chr4:667526-668856	MCF-7	breast:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
29	POLR2A	chr4:667906-669864	HCT-116	colon:	n/a	n/a
30	CTCF	chr4:667879-668747	SK-N-SH	brain:	n/a	chr4:668170-668183 chr4:668171-668181 chr4:668169-668185 chr4:668168-668186
31	TAF1	chr4:667797-668681	HepG2	liver:	n/a	n/a
32	BCLAF1	chr4:667941-668660	GM12878	blood:	n/a	chr4:668168-668181 chr4:668200-668213
33	TFAP2C	chr4:667942-668633	Hela-S3	cervix:	n/a	n/a
34	MAX	chr4:667908-668767	K562	blood:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
35	POLR2A	chr4:667863-669691	GM12878	blood:	n/a	n/a
36	POLR2A	chr4:667762-668654	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:667840-672164	SK-N-MC	brain:	n/a	n/a
38	POLR2A	chr4:667118-669869	HepG2	liver:	n/a	n/a
39	POLR2A	chr4:667917-669246	HL-60	blood:	n/a	n/a
40	MYC	chr4:667493-669112	K562	blood:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
41	CREB1	chr4:667835-668660	GM12878	blood:	n/a	chr4:668213-668226
42	YY1	chr4:667888-668752	ECC-1	luminal epithelium:	n/a	chr4:667969-667983 chr4:668160-668174 chr4:668166-668180
43	MYC	chr4:667867-669142	A549	lung:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
44	SIN3AK20	chr4:667459-668695	K562	blood:	n/a	n/a
45	YY1	chr4:668511-668792	K562	blood:	n/a	n/a
46	MYC	chr4:667529-668704	K562	blood:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
47	YY1	chr4:667843-668820	ECC-1	luminal epithelium:	n/a	chr4:667969-667983 chr4:668160-668174 chr4:668166-668180
48	POLR2A	chr4:666971-670146	H1-hESC	embryonic stem cell:	n/a	n/a
49	ELF1	chr4:667953-668687	GM12878	blood:	n/a	n/a
50	MAX	chr4:667057-669372	A549	lung:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:668623-668673	BE2_C	brain:	n/a
2	chr4:668623-668673	PFSK-1	brain:	n/a
3	chr4:668623-668673	NB4	blood:	n/a
4	chr4:668623-668673	ECC-1	luminal epithelium:	n/a
5	chr4:668623-668673	T-47D	breast:	n/a
6	chr4:668623-668673	GM12878	blood:	n/a
7	chr4:668623-668673	RPTEC	kidney:	n/a
8	chr4:668623-668673	K562	blood:	n/a
9	chr4:668623-668673	NH-A	brain:	n/a
10	chr4:668623-668673	HepG2	liver:	n/a
11	chr4:668623-668673	HUVEC	blood vessel:	n/a
12	chr4:668623-668673	NHDF-neo	bronchial:	n/a
13	chr4:668623-668673	HNPCEpiC	eye:	n/a
14	chr4:668623-668673	SKMC	muscle:	n/a
15	chr4:668623-668673	GM19239	blood:	n/a
16	chr4:668623-668673	ovcar-3	ovarian:	n/a
17	chr4:668623-668673	HMEC	breast:	n/a
18	chr4:668623-668673	HRPEpiC	eye:	n/a
19	chr4:668623-668673	HEEpiC	esophagus:	n/a
20	chr4:668623-668673	HL-60	blood:	n/a
21	chr4:668623-668673	GM06990	blood:	n/a
22	chr4:668623-668673	AoSMC	blood vessel:	n/a
23	chr4:668623-668673	CMK	blood:	n/a
24	chr4:668623-668673	A549	lung:	n/a
25	chr4:668623-668673	GM12891	blood:	n/a
26	chr4:668623-668673	BJ	skin:	n/a
27	chr4:668623-668673	MCF-7	breast:	n/a
28	chr4:668623-668673	U87	brain:	n/a
29	chr4:668623-668673	NHBE	bronchial:	n/a
30	chr4:668623-668673	HRCEpiC	kidney:	n/a
31	chr4:668623-668673	HRE	kidney:	n/a
32	chr4:668623-668673	SK-N-MC	brain:	n/a
33	chr4:668623-668673	MCF10A-Er-Src	breast:	n/a
34	chr4:668623-668673	ProgFib	skin:	n/a
35	chr4:668623-668673	HCT-116	colon:	n/a
36	chr4:668623-668673	Hela-S3	cervix:	n/a
37	chr4:668623-668673	AG10803	skin:	n/a
38	chr4:668623-668673	PANC-1	pancreas:	n/a
39	chr4:668623-668673	HCF	heart:	n/a
40	chr4:668623-668673	SK-N-SH_RA	brain:	n/a
41	chr4:668623-668673	HCM	heart:	n/a
42	chr4:668623-668673	HCPEpiC	choroid plexus:	n/a
43	chr4:668623-668673	AG04449	skin:	fetal
44	chr4:668623-668673	IMR90	lung:	fetal
45	chr4:668623-668673	HAEpiC	amniotic membrane:	n/a
46	chr4:668623-668673	HIPEpiC	eye:	n/a
47	chr4:668623-668673	AG04450	lung:	fetal
48	chr4:668623-668673	NT2-D1	testis:	n/a
49	chr4:668623-668673	AG09319	gingival:	n/a
50	chr4:668623-668673	SAEC	small airway:	n/a

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
MYL5	TF binding region
ATP5I	TF binding region
MYL5	CpG island
ATP5I	CpG island
ENSG00000214176	Chromatin interaction
ENSG00000249592	Chromatin interaction
ENSG00000127418	Chromatin interaction
ENSG00000127415	Chromatin interaction
ENSG00000185619	Chromatin interaction
ENSG00000174227	Chromatin interaction
ENSG00000169026	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:666800-668800	Active TSS	GM12878-XiMat	blood
2	chr4:667000-668800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr4:667000-668800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:667000-669200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:667000-669200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr4:667000-669600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:667200-668800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr4:667200-669000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:667200-669000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:667200-669200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr4:667200-669200	Active TSS	NHLF	lung
12	chr4:667400-668800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:667400-668800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:667400-668800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:667400-668800	Active TSS	Muscle Satellite Cultured Cells	--
16	chr4:667400-668800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:667400-668800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:667400-668800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:667400-668800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:667400-668800	Active TSS	Esophagus	oesophagus
21	chr4:667400-668800	Active TSS	Fetal Brain Female	brain
22	chr4:667400-668800	Active TSS	Fetal Intestine Large	intestine
23	chr4:667400-668800	Active TSS	HMEC	breast
24	chr4:667400-668800	Active TSS	Osteobl	bone
25	chr4:667400-669000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:667400-669000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:667400-669000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:667400-669000	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr4:667400-669000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:667400-669000	Active TSS	Fetal Kidney	kidney
31	chr4:667400-669000	Active TSS	Small Intestine	intestine
32	chr4:667400-669000	Active TSS	HSMM	muscle
33	chr4:667400-669000	Active TSS	K562	blood
34	chr4:667400-669000	Active TSS	NHEK	skin
35	chr4:667400-669200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr4:667400-669200	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr4:667400-669200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr4:667400-669200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr4:667400-669200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:667400-669200	Active TSS	A549	lung
41	chr4:667400-669200	Active TSS	HepG2	liver
42	chr4:667400-669200	Active TSS	HSMMtube	muscle
43	chr4:667400-669200	Active TSS	NHDF-Ad	bronchial
44	chr4:667400-669400	Active TSS	H9 Cell Line	embryonic stem cell
45	chr4:667400-669400	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr4:667400-670200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:667600-668800	Active TSS	H1 Cell Line	embryonic stem cell
48	chr4:667600-668800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:667600-668800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr4:667600-668800	Active TSS	Primary T helper naive cells from peripheral blood	blood

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