Variant report

Variant	rs182884148
Chromosome Location	chr4:668834-668835
allele	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	MXI1	chr4:667929-669271	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:667072-669901	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:667917-670486	GM12891	blood:	n/a	n/a
5	RUNX3	chr4:668677-669062	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:667464-672151	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:667480-669063	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr4:667656-672822	GM19099	blood:	n/a	n/a
9	JUN	chr4:667865-668883	K562	blood:	n/a	chr4:668162-668171 chr4:668215-668224 chr4:668211-668224
10	HCFC1	chr4:667501-669103	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr4:667899-673815	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:667866-668951	K562	blood:	n/a	n/a
13	POLR2A	chr4:667545-669818	NB4	blood:	n/a	n/a
14	POLR2A	chr4:667036-669605	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr4:668697-671413	GM12891	blood:	n/a	n/a
16	POLR2A	chr4:667894-670508	GM12892	blood:	n/a	n/a
17	POLR2A	chr4:667908-672199	GM12878	blood:	n/a	n/a
18	MAX	chr4:667526-668856	MCF-7	breast:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
19	POLR2A	chr4:667906-669864	HCT-116	colon:	n/a	n/a
20	POLR2A	chr4:668780-669707	HCT-116	colon:	n/a	n/a
21	POLR2A	chr4:668745-669017	GM12878	blood:	n/a	n/a
22	POLR2A	chr4:667863-669691	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:667840-672164	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr4:667118-669869	HepG2	liver:	n/a	n/a
25	POLR2A	chr4:667917-669246	HL-60	blood:	n/a	n/a
26	MYC	chr4:667493-669112	K562	blood:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
27	POLR2A	chr4:668796-669124	MCF-7	breast:	n/a	n/a
28	MYC	chr4:667867-669142	A549	lung:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
29	POLR2A	chr4:666971-670146	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr4:667057-669372	A549	lung:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
31	MAX	chr4:667020-669306	K562	blood:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
32	UBTF	chr4:668013-669061	K562	blood:	n/a	n/a
33	POLR2A	chr4:667184-669475	Hela-S3	cervix:	n/a	n/a
34	ZBTB7A	chr4:667919-668855	ECC-1	luminal epithelium:	n/a	chr4:668169-668178
35	YY1	chr4:667894-668887	GM12878	blood:	n/a	chr4:667969-667983 chr4:668160-668174 chr4:668166-668180
36	RELA	chr4:667932-669009	GM12891	blood:	n/a	n/a
37	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
38	REST	chr4:667615-668961	H1-neurons	neurons:	n/a	chr4:668493-668513 chr4:668493-668513 chr4:668689-668702 chr4:668493-668513 chr4:668583-668596 chr4:668494-668512 chr4:668497-668510
39	MAX	chr4:667484-669325	NB4	blood:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
40	POLR2A	chr4:667634-670413	MCF10A-Er-Src	breast:	n/a	n/a
41	MTA3	chr4:667832-670995	GM12878	blood:	n/a	n/a
42	CREB1	chr4:667033-669390	HepG2	liver:	n/a	chr4:668213-668226
43	FOXM1	chr4:667879-668849	GM12878	blood:	n/a	n/a
44	MAZ	chr4:667938-669181	GM12878	blood:	n/a	chr4:668220-668229 chr4:668315-668325 chr4:668222-668238
45	POLR2A	chr4:667552-670868	GM12892	blood:	n/a	n/a
46	TAF1	chr4:667762-668922	ECC-1	luminal epithelium:	n/a	n/a
47	ESRRA	chr4:667907-669113	GM12878	blood:	n/a	n/a
48	RELA	chr4:667965-668839	GM12892	blood:	n/a	n/a
49	MXI1	chr4:667927-669251	IMR90	lung:	n/a	n/a
50	TAF1	chr4:667894-669027	ECC-1	luminal epithelium:	n/a	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
ENSG00000127415	Chromatin interaction
ENSG00000249592	Chromatin interaction
ENSG00000185619	Chromatin interaction
ENSG00000169026	Chromatin interaction
ENSG00000174227	Chromatin interaction
ENSG00000127418	Chromatin interaction
ENSG00000214176	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	chr4:667000-669200	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	chr4:667200-669000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:667200-669000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:667200-669200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:667200-669200	Active TSS	NHLF	lung
8	chr4:667400-669000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:667400-669000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:667400-669000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:667400-669000	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr4:667400-669000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:667400-669000	Active TSS	Fetal Kidney	kidney
14	chr4:667400-669000	Active TSS	Small Intestine	intestine
15	chr4:667400-669000	Active TSS	HSMM	muscle
16	chr4:667400-669000	Active TSS	K562	blood
17	chr4:667400-669000	Active TSS	NHEK	skin
18	chr4:667400-669200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr4:667400-669200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr4:667400-669200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr4:667400-669200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr4:667400-669200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:667400-669200	Active TSS	A549	lung
24	chr4:667400-669200	Active TSS	HepG2	liver
25	chr4:667400-669200	Active TSS	HSMMtube	muscle
26	chr4:667400-669200	Active TSS	NHDF-Ad	bronchial
27	chr4:667400-669400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr4:667400-669400	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr4:667400-670200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:667600-669000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:667600-669000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:667600-669000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:667600-669000	Active TSS	Aorta	Aorta
34	chr4:667600-669000	Active TSS	Brain Angular Gyrus	brain
35	chr4:667600-669000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr4:667600-669000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:667600-669000	Active TSS	Brain Substantia Nigra	brain
38	chr4:667600-669000	Active TSS	Colon Smooth Muscle	Colon
39	chr4:667600-669000	Active TSS	Left Ventricle	heart
40	chr4:667600-669000	Active TSS	Psoas Muscle	Psoas
41	chr4:667600-669000	Active TSS	Rectal Smooth Muscle	rectum
42	chr4:667600-669000	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr4:667600-669800	Active TSS	Hela-S3	cervix
44	chr4:668000-669200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:668400-669200	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr4:668400-669400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr4:668400-669400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr4:668600-669000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:668600-669000	Active TSS	Right Atrium	heart
50	chr4:668600-669200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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