Variant report

Variant	rs540103709
Chromosome Location	chr1:156339519-156339520
allele	-/AGTTGGGATTGGAAGCC
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	chr1:156338685-156339828	HepG2	liver:	n/a	n/a
2	CTCF	chr1:156339379-156339660	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:156336907-156344214	HepG2	liver:	n/a	n/a
4	MBD4	chr1:156339265-156339896	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:156339453-156339821	HepG2	liver:	n/a	n/a
6	ZEB1	chr1:156336577-156339970	HepG2	liver:	n/a	chr1:156338920-156338927
7	POLR2A	chr1:156338600-156339892	HepG2	liver:	n/a	n/a
8	HEY1	chr1:156338531-156339877	HepG2	liver:	n/a	chr1:156338975-156338990

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:156335306..156343282-chr1:156347773..156352892,8	MCF-7	breast:
2	chr1:156305358..156309501-chr1:156336177..156340436,7	MCF-7	breast:

Variant related genes	Relation type
CCT3	TF binding region
ENSG00000163468	Chromatin interaction
ENSG00000163467	Chromatin interaction
ENSG00000132677	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	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases
2	nsv1011302	chr1:156081561-156532624	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong 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	380 gene(s)	inside rSNPs	diseases
3	nsv915822	chr1:156226286-156651655	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Enhancers 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 miRNA target site	367 gene(s)	inside rSNPs	diseases
4	nsv872471	chr1:156287360-156356480	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv470742	chr1:156335111-156354367	Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1793632	chr1:156338992-156366178	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:156338200-156341400	Weak transcription	Hela-S3	cervix
2	chr1:156338600-156339600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:156338600-156339600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:156338600-156339600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:156338600-156339600	Flanking Active TSS	Ovary	ovary
6	chr1:156338600-156339600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
7	chr1:156338600-156339800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:156338600-156339800	Flanking Active TSS	Liver	Liver
9	chr1:156338800-156339600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:156338800-156339600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:156338800-156339600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:156338800-156339600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:156338800-156339600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
14	chr1:156338800-156339600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr1:156338800-156339600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:156338800-156339600	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr1:156338800-156339600	Flanking Active TSS	HMEC	breast
18	chr1:156338800-156339800	Flanking Active TSS	Spleen	Spleen
19	chr1:156338800-156339800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr1:156339000-156339600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:156339000-156339600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
22	chr1:156339000-156339600	Bivalent/Poised TSS	HepG2	liver
23	chr1:156339000-156339800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:156339000-156339800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:156339000-156339800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:156339000-156339800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
27	chr1:156339200-156339600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr1:156339200-156339600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr1:156339200-156339600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
30	chr1:156339200-156339600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:156339200-156339600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
32	chr1:156339200-156339600	Flanking Active TSS	Esophagus	oesophagus
33	chr1:156339200-156339600	Bivalent/Poised TSS	Fetal Brain Male	brain
34	chr1:156339200-156339600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
35	chr1:156339200-156339600	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
36	chr1:156339200-156339600	Flanking Active TSS	NHEK	skin
37	chr1:156339200-156339800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr1:156339400-156339600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:156339400-156339600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
40	chr1:156339400-156339600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:156339400-156339600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:156339400-156339600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:156339400-156339600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr1:156339400-156339600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:156339400-156339600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr1:156339400-156339600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr1:156339400-156339600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
48	chr1:156339400-156339600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr1:156339400-156339600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:156339400-156339600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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