Variant report

Variant	rs547945335
Chromosome Location	chr4:7000846-7000847
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	POLR2A	chr4:7000544-7001479	MCF10A-Er-Src	breast:	n/a	n/a
2	TEAD4	chr4:7000664-7001409	ECC-1	luminal epithelium:	n/a	n/a
3	JUND	chr4:7000562-7001580	HCT-116	colon:	n/a	n/a
4	ZNF384	chr4:6999881-7001187	K562	blood:	n/a	n/a
5	ATF3	chr4:7000617-7001500	HCT-116	colon:	n/a	n/a
6	RCOR1	chr4:7000643-7001358	K562	blood:	n/a	n/a
7	STAT3	chr4:7000846-7001284	Hela-S3	cervix:	n/a	n/a
8	TBP	chr4:7000832-7001341	Hela-S3	cervix:	n/a	n/a
9	MAX	chr4:7000810-7001364	Hela-S3	cervix:	n/a	n/a
10	RCOR1	chr4:7000751-7001331	Hela-S3	cervix:	n/a	n/a
11	JUN	chr4:7000777-7001352	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr4:7000657-7001484	HCT-116	colon:	n/a	n/a
13	FOS	chr4:7000732-7001367	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr4:7000606-7006654	K562	blood:	n/a	n/a
15	RFX5	chr4:7000803-7001244	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr4:7000801-7001419	HCT-116	colon:	n/a	n/a
17	YY1	chr4:7000835-7001273	HCT-116	colon:	n/a	n/a
18	BRCA1	chr4:7000753-7001171	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr4:7000834-7001227	K562	blood:	n/a	chr4:7001041-7001052
20	JUN	chr4:7000812-7001172	K562	blood:	n/a	n/a
21	RAD21	chr4:7000835-7001341	Hela-S3	cervix:	n/a	n/a
22	HCFC1	chr4:7000746-7001253	K562	blood:	n/a	n/a
23	CEBPB	chr4:7000702-7001392	Hela-S3	cervix:	n/a	chr4:7001041-7001052
24	MYC	chr4:7000799-7001264	MCF10A-Er-Src	breast:	n/a	n/a
25	ZKSCAN1	chr4:7000695-7001386	Hela-S3	cervix:	n/a	n/a
26	MAZ	chr4:7000840-7001271	Hela-S3	cervix:	n/a	n/a
27	EP300	chr4:7000798-7001325	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr4:7000779-7001391	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr4:7000700-7001369	MCF10A-Er-Src	breast:	n/a	n/a
30	JUND	chr4:7000776-7001368	Hela-S3	cervix:	n/a	n/a
31	JUN	chr4:7000457-7001453	K562	blood:	n/a	n/a
32	CEBPB	chr4:7000633-7001460	HCT-116	colon:	n/a	chr4:7001041-7001052
33	SP1	chr4:7000533-7001604	HCT-116	colon:	n/a	n/a
34	STAT3	chr4:7000661-7001220	MCF10A-Er-Src	breast:	n/a	n/a
35	SP1	chr4:7000512-7001596	HCT-116	colon:	n/a	n/a
36	SMC3	chr4:7000826-7001361	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr4:7000839-7001116	K562	blood:	n/a	chr4:7001041-7001052
38	MYC	chr4:7000807-7001393	MCF10A-Er-Src	breast:	n/a	n/a
39	JUND	chr4:7000830-7001395	K562	blood:	n/a	n/a
40	MYC	chr4:7000673-7001296	K562	blood:	n/a	n/a
41	TBL1XR1	chr4:7000726-7001204	K562	blood:	n/a	n/a
42	CHD2	chr4:7000803-7001281	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr4:6999999-7001560	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr4:7000806-7001365	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr4:7000730-7001363	MCF10A-Er-Src	breast:	n/a	n/a
46	ATF1	chr4:7000818-7001317	K562	blood:	n/a	n/a
47	POLR2A	chr4:7000693-7001390	Hela-S3	cervix:	n/a	n/a
48	MAFK	chr4:7000654-7001254	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:7000132..7002859-chr4:7044384..7046741,2	MCF-7	breast:
2	chr4:6999660..7002155-chr4:7043088..7045317,3	MCF-7	breast:
3	chr4:6999677..7002587-chr4:7042055..7044238,2	K562	blood:

Variant related genes	Relation type
TBC1D14	TF binding region
ENSG00000173011	Chromatin interaction
ENSG00000173013	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv3358199	chr4:7000551-7004849	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6990400-7008800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:6991000-7021800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:6993200-7006800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:6993800-7008400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:6994000-7005200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:6994000-7008600	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:6994000-7035600	Strong transcription	Fetal Stomach	stomach
8	chr4:6994000-7043200	Weak transcription	Right Atrium	heart
9	chr4:6994200-7035400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:6994400-7001000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr4:6994400-7013400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr4:6994600-7006800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr4:6994600-7021400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:6994800-7007600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:6995000-7009200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:6995000-7020800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:6995200-7008400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:6995200-7008600	Strong transcription	Fetal Intestine Small	intestine
19	chr4:6995400-7005000	Strong transcription	GM12878-XiMat	blood
20	chr4:6995400-7006600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr4:6995400-7007800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:6995400-7008600	Strong transcription	Fetal Intestine Large	intestine
23	chr4:6995400-7013600	Strong transcription	Fetal Thymus	thymus
24	chr4:6995600-7006800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr4:6995800-7001600	Strong transcription	Liver	Liver
26	chr4:6995800-7003400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:6995800-7004200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:6995800-7006800	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr4:6995800-7008200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:6995800-7008400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:6995800-7032800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:6996000-7004000	Strong transcription	Fetal Lung	lung
33	chr4:6996000-7004200	Weak transcription	Psoas Muscle	Psoas
34	chr4:6996000-7004600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:6996000-7006400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:6996000-7014800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr4:6996000-7035200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:6996400-7007400	Strong transcription	Fetal Brain Female	brain
39	chr4:6996400-7034800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:6996600-7001000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:6996600-7005000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:6996600-7005600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:6996600-7021400	Strong transcription	Brain Germinal Matrix	brain
44	chr4:6997600-7006400	Strong transcription	Left Ventricle	heart
45	chr4:6997800-7001000	Strong transcription	HSMMtube	muscle
46	chr4:6997800-7013800	Strong transcription	Thymus	Thymus
47	chr4:6998000-7006800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:6998200-7004200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:6998400-7001200	Strong transcription	Small Intestine	intestine
50	chr4:6998400-7004600	Strong transcription	NHLF	lung

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