Variant report

Variant	rs563138335
Chromosome Location	chr6:1609145-1609146
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	SUZ12	chr6:1607940-1609783	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr6:1608865-1609932	ECC-1	luminal epithelium:	n/a	chr6:1608966-1608974
3	E2F6	chr6:1608599-1609150	H1-hESC	embryonic stem cell:	n/a	chr6:1608871-1608878 chr6:1608871-1608878 chr6:1608871-1608878
4	ZNF263	chr6:1606891-1610222	HEK293-T-REx	kidney:	n/a	chr6:1607928-1607937 chr6:1607926-1607947
5	CTBP2	chr6:1608542-1609793	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB7A	chr6:1609097-1610089	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr6:1606446-1612572	HEK293	kidney:	n/a	n/a
8	POLR2A	chr6:1608757-1611681	MCF-7	breast:	n/a	n/a
9	SIN3A	chr6:1607105-1609176	H1-hESC	embryonic stem cell:	n/a	chr6:1608712-1608720 chr6:1608414-1608427 chr6:1608395-1608406
10	POLR2A	chr6:1607071-1609341	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr6:1608580-1613597	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr6:1607882-1612851	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr6:1607433-1609298	H1-neurons	neurons:	n/a	n/a
14	MAZ	chr6:1609082-1612045	IMR90	lung:	n/a	n/a

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	chr6:1607121..1609914-chr6:1613223..1615033,2	K562	blood:
8	chr6:1607774..1610426-chr6:2098410..2101344,2	MCF-7	breast:
9	chr6:1608889..1609545-chr6:1641330..1642058,3	MCF-7	breast:

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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

No data

Chromatin state (count:97 , 50 per page) page: 1 2

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	chr6:1605000-1609400	Bivalent Enhancer	Fetal Thymus	thymus
5	chr6:1605000-1610800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr6:1605200-1609600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr6:1605400-1609400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
8	chr6:1605400-1609400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:1605400-1609400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr6:1605600-1609400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
11	chr6:1605600-1620800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:1606200-1609800	Bivalent/Poised TSS	Fetal Kidney	kidney
13	chr6:1606800-1609400	Bivalent Enhancer	Placenta	Placenta
14	chr6:1607000-1609400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:1607000-1609600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
16	chr6:1607000-1612600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr6:1607200-1609200	Bivalent Enhancer	Fetal Heart	heart
18	chr6:1607200-1609200	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr6:1607200-1609400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr6:1607200-1609400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr6:1607200-1609400	Bivalent Enhancer	Fetal Stomach	stomach
22	chr6:1607200-1609600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:1607200-1609600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:1607200-1610000	Bivalent Enhancer	Fetal Brain Male	brain
25	chr6:1607400-1609600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:1607600-1609200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr6:1607800-1609400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
28	chr6:1607800-1609600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:1607800-1611200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr6:1607800-1611200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
31	chr6:1607800-1612000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
32	chr6:1608000-1609400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:1608000-1609400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
34	chr6:1608000-1609400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
35	chr6:1608000-1609400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
36	chr6:1608000-1609400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr6:1608000-1609600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:1608200-1609200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
39	chr6:1608200-1609200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:1608200-1609400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:1608200-1609400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr6:1608200-1609400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr6:1608200-1609400	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr6:1608400-1609400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
45	chr6:1608400-1609800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:1608400-1609800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:1608400-1612000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
48	chr6:1608600-1609200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
49	chr6:1608600-1609400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:1608600-1609400	Bivalent Enhancer	Colonic Mucosa	Colon

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