Variant report

Variant	rs191228689
Chromosome Location	chr6:1614245-1614246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:1612494..1615565-chr6:2103145..2107069,5	MCF-7	breast:
2	chr6:1613450..1614402-chr6:1641238..1641879,5	MCF-7	breast:
3	chr6:1612762..1614490-chr6:1684651..1686337,2	MCF-7	breast:
4	chr6:1613601..1616757-chr6:1636130..1638960,3	MCF-7	breast:
5	chr6:1607121..1609914-chr6:1613223..1615033,2	K562	blood:
6	chr6:1613541..1614598-chr6:1641560..1642153,3	MCF-7	breast:
7	chr6:1611913..1614321-chr6:1833472..1836057,3	MCF-7	breast:
8	chr6:1613523..1614289-chr6:1838606..1839498,2	MCF-7	breast:
9	chr18:19749229..19749950-chr6:1614233..1614782,2	Hela-S3	cervix:
10	chr6:1613823..1614389-chr6:1641267..1641965,2	MCF-7	breast:
11	chr6:1612565..1615275-chr6:1837590..1839107,2	MCF-7	breast:
12	chr6:1613541..1614425-chr6:1641560..1642119,3	MCF-7	breast:
13	chr6:1612951..1615735-chr6:3066934..3068619,2	MCF-7	breast:
14	chr6:1613675..1614411-chr6:1641501..1642080,3	MCF-7	breast:
15	chr1:183441719..183444081-chr6:1612481..1614965,2	MCF-7	breast:
16	chr6:1612605..1614594-chr6:1617750..1620318,2	K562	blood:
17	chr6:1612642..1614747-chr6:1828037..1830665,2	MCF-7	breast:
18	chr6:1612577..1614591-chr6:1838798..1840944,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000141448	Chromatin interaction
ENSG00000116698	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	nsv600807	chr6:1610884-1623990	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
26	esv3377457	chr6:1613478-1616526	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1605600-1620800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr6:1609000-1615200	Active TSS	Right Atrium	heart
3	chr6:1609000-1615400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:1609200-1614400	Active TSS	A549	lung
5	chr6:1609400-1616000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:1609600-1614400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:1609600-1614800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:1609600-1616000	Active TSS	Hela-S3	cervix
9	chr6:1609800-1614600	Active TSS	HMEC	breast
10	chr6:1611000-1615400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:1611200-1614600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:1611200-1615600	Bivalent/Poised TSS	Left Ventricle	heart
13	chr6:1612000-1615400	Bivalent/Poised TSS	NH-A	brain
14	chr6:1612200-1615400	Bivalent/Poised TSS	Psoas Muscle	Psoas
15	chr6:1612200-1616200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:1612200-1617000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
17	chr6:1612400-1614400	Weak transcription	Gastric	stomach
18	chr6:1612400-1614600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
19	chr6:1612400-1615000	Active TSS	Ovary	ovary
20	chr6:1612400-1615200	Active TSS	Right Ventricle	heart
21	chr6:1612600-1614400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
22	chr6:1612600-1614400	Bivalent/Poised TSS	Thymus	Thymus
23	chr6:1612600-1614800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
24	chr6:1612800-1616000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr6:1612800-1617000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr6:1613000-1615800	Active TSS	Osteobl	bone
27	chr6:1613000-1616000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:1613200-1614400	Active TSS	HSMMtube	muscle
29	chr6:1613400-1622400	Weak transcription	HepG2	liver
30	chr6:1613600-1615400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:1613600-1615800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:1613800-1614400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr6:1613800-1614400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
34	chr6:1613800-1614600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr6:1613800-1614600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
36	chr6:1613800-1614600	Active TSS	HSMM	muscle
37	chr6:1613800-1614800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:1613800-1614800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
39	chr6:1613800-1614800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr6:1613800-1614800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:1613800-1614800	Active TSS	Muscle Satellite Cultured Cells	--
42	chr6:1613800-1615200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:1613800-1615400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
44	chr6:1613800-1615600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:1613800-1615600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr6:1613800-1615600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:1613800-1615600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:1613800-1615800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr6:1613800-1616000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr6:1614000-1614400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell

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