Variant report

Variant	rs145449768
Chromosome Location	chr6:1609553-1609554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:1609497-1610801	NB4	blood:	n/a	n/a
2	ZKSCAN1	chr6:1609532-1609731	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr6:1609409-1611159	MCF10A-Er-Src	breast:	n/a	n/a
4	MAX	chr6:1609478-1610437	NB4	blood:	n/a	n/a
5	SUZ12	chr6:1607940-1609783	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr6:1609290-1611152	A549	lung:	n/a	n/a
7	CHD2	chr6:1609365-1610382	Hela-S3	cervix:	n/a	n/a
8	ZBTB7A	chr6:1608865-1609932	ECC-1	luminal epithelium:	n/a	chr6:1608966-1608974
9	MAX	chr6:1609296-1610500	ECC-1	luminal epithelium:	n/a	n/a
10	ZNF263	chr6:1606891-1610222	HEK293-T-REx	kidney:	n/a	chr6:1607928-1607937 chr6:1607926-1607947
11	E2F6	chr6:1609537-1609860	A549	lung:	n/a	n/a
12	MAX	chr6:1609395-1610504	HepG2	liver:	n/a	n/a
13	HCFC1	chr6:1609379-1612032	Hela-S3	cervix:	n/a	n/a
14	MXI1	chr6:1609163-1613690	SK-N-SH	brain:	n/a	n/a
15	SMARCB1	chr6:1609385-1612360	Hela-S3	cervix:	n/a	n/a
16	MYC	chr6:1609444-1610476	NB4	blood:	n/a	n/a
17	MXI1	chr6:1609378-1612962	IMR90	lung:	n/a	n/a
18	CTBP2	chr6:1608542-1609793	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr6:1609544-1610141	A549	lung:	n/a	n/a
20	POLR2A	chr6:1609498-1611132	MCF10A-Er-Src	breast:	n/a	n/a
21	ZBTB7A	chr6:1609097-1610089	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr6:1609310-1611131	ECC-1	luminal epithelium:	n/a	n/a
23	MAX	chr6:1609398-1610447	A549	lung:	n/a	n/a
24	POLR2A	chr6:1606446-1612572	HEK293	kidney:	n/a	n/a
25	RCOR1	chr6:1609539-1609604	HepG2	liver:	n/a	n/a
26	POLR2A	chr6:1608757-1611681	MCF-7	breast:	n/a	n/a
27	E2F6	chr6:1609437-1610422	A549	lung:	n/a	chr6:1609878-1609888 chr6:1610068-1610078
28	CTCF	chr6:1609540-1609690	Caco-2	colon:	n/a	n/a
29	MAX	chr6:1609501-1609944	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr6:1609512-1610584	Gliobla	brain:	n/a	n/a
31	MAX	chr6:1609476-1610985	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr6:1609494-1610594	MCF-7	breast:	n/a	n/a
33	POLR2A	chr6:1609429-1610610	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr6:1608580-1613597	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr6:1607882-1612851	Hela-S3	cervix:	n/a	n/a
36	MAZ	chr6:1609315-1611925	Hela-S3	cervix:	n/a	n/a
37	MAX	chr6:1609422-1610348	MCF-7	breast:	n/a	n/a
38	POLR2A	chr6:1609441-1611843	IMR90	lung:	n/a	n/a
39	POLR2A	chr6:1609349-1610644	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr6:1609262-1610483	HCT-116	colon:	n/a	n/a
41	POLR2A	chr6:1609214-1610598	HCT-116	colon:	n/a	n/a
42	MAX	chr6:1609276-1609923	SK-N-SH	brain:	n/a	n/a
43	MAX	chr6:1609276-1611052	HepG2	liver:	n/a	n/a
44	SMC3	chr6:1609478-1610365	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr6:1609450-1610525	HUVEC	blood vessel:	n/a	n/a
46	MAX	chr6:1609490-1610441	SK-N-SH	brain:	n/a	n/a
47	MAZ	chr6:1609411-1609575	HepG2	liver:	n/a	n/a
48	MAZ	chr6:1609082-1612045	IMR90	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:1607577..1610037-chr6:2107747..2109346,3	MCF-7	breast:
2	chr6:1608353..1611335-chr6:2245492..2248463,2	MCF-7	breast:
3	chr6:1607913..1609589-chr6:2471423..2474239,2	MCF-7	breast:
4	chr6:1608295..1609995-chr6:2876542..2878231,2	MCF-7	breast:
5	chr6:1608640..1610320-chr6:2764921..2767231,2	MCF-7	breast:
6	chr6:1608029..1610545-chr6:1915416..1919377,4	MCF-7	breast:
7	chr11:67887768..67889272-chr6:1609533..1611427,2	MCF-7	breast:
8	chr6:1609450..1612431-chr6:1929248..1931252,2	MCF-7	breast:
9	chr6:1607121..1609914-chr6:1613223..1615033,2	K562	blood:
10	chr6:1607774..1610426-chr6:2098410..2101344,2	MCF-7	breast:

No data

Variant related genes	Relation type
FOXC1	TF binding region
ENSG00000112699	Chromatin interaction
ENSG00000124535	Chromatin interaction
ENSG00000250903	Chromatin interaction
ENSG00000110721	Chromatin interaction
ENSG00000230438	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024111	chr6:1231850-1730146	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1021924	chr6:1254891-1736995	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv538082	chr6:1254891-1736995	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv917248	chr6:1365437-1627813	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1034039	chr6:1427061-1691837	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv538088	chr6:1427061-1691837	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv1027393	chr6:1446300-1692019	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv538089	chr6:1446300-1692019	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv1016859	chr6:1460020-1645819	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv883376	chr6:1535043-1635082	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv491607	chr6:1580681-1951526	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv1016594	chr6:1590030-1702529	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	nsv823394	chr6:1590091-1629146	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
15	nsv883378	chr6:1593851-1623990	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
16	nsv883379	chr6:1593851-1628902	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
17	nsv823395	chr6:1595031-1629521	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
18	nsv883380	chr6:1595216-1621404	Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
19	nsv883381	chr6:1595216-1628902	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
20	nsv823396	chr6:1597359-1629106	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
21	nsv883382	chr6:1598942-1620037	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
22	nsv823397	chr6:1603867-1622264	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
23	nsv530888	chr6:1605768-1739933	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
24	esv3409241	chr6:1608853-1616151	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
25	esv3436874	chr6:1609353-1613751	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
26	esv3374071	chr6:1609378-1611926	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1604200-1610800	Active TSS	Aorta	Aorta
2	chr6:1604400-1610800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:1604800-1609600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr6:1605000-1610800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr6:1605200-1609600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr6:1605600-1620800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:1606200-1609800	Bivalent/Poised TSS	Fetal Kidney	kidney
8	chr6:1607000-1609600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
9	chr6:1607000-1612600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr6:1607200-1609600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:1607200-1609600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:1607200-1610000	Bivalent Enhancer	Fetal Brain Male	brain
13	chr6:1607400-1609600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:1607800-1609600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:1607800-1611200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr6:1607800-1611200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
17	chr6:1607800-1612000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
18	chr6:1608000-1609600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:1608400-1609800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:1608400-1609800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:1608400-1612000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
22	chr6:1608600-1609600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:1608600-1610600	Bivalent/Poised TSS	Thymus	Thymus
24	chr6:1608600-1611000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr6:1608600-1611200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr6:1608600-1611200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
27	chr6:1608800-1609600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:1608800-1609600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
29	chr6:1608800-1609800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:1608800-1609800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
31	chr6:1608800-1609800	Flanking Active TSS	Right Ventricle	heart
32	chr6:1608800-1610200	Enhancers	Liver	Liver
33	chr6:1609000-1609600	Bivalent Enhancer	NHDF-Ad	bronchial
34	chr6:1609000-1609800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:1609000-1609800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
36	chr6:1609000-1609800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr6:1609000-1612000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:1609000-1612000	Active TSS	Ovary	ovary
39	chr6:1609000-1612200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:1609000-1615200	Active TSS	Right Atrium	heart
41	chr6:1609000-1615400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr6:1609200-1609600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:1609200-1609600	Bivalent Enhancer	Primary B cells from cord blood	blood
44	chr6:1609200-1609600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:1609200-1609600	Enhancers	Lung	lung
46	chr6:1609200-1609800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
47	chr6:1609200-1609800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
48	chr6:1609200-1609800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
49	chr6:1609200-1609800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:1609200-1609800	Flanking Active TSS	HMEC	breast

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