Variant report

Variant	rs549186559
Chromosome Location	chr1:155530810-155530811
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	chr1:155530604-155530826	MCF-7	breast:	n/a	n/a
2	POLR2A	chr1:155530289-155534117	GM12878	blood:	n/a	n/a
3	HEY1	chr1:155530426-155534124	K562	blood:	n/a	chr1:155532541-155532556
4	POLR2A	chr1:155530275-155532622	GM12878	blood:	n/a	n/a
5	POU2F2	chr1:155530540-155530849	GM12878	blood:	n/a	chr1:155530640-155530654

No.	Distal block	Cell Line	Cell type
1	chr1:155291309..155295116-chr1:155530603..155535374,8	MCF-7	breast:
2	chr1:155530671..155532502-chr1:155535326..155537191,2	MCF-7	breast:
3	chr1:155520429..155523505-chr1:155527684..155531607,4	K562	blood:

Variant related genes	Relation type
ASH1L-AS1	TF binding region
ENSG00000271267	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000225855	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv946417	chr1:155529941-155533143	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155517000-155531400	Weak transcription	Esophagus	oesophagus
2	chr1:155518200-155531600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:155518600-155531400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:155522200-155531400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:155526200-155531600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:155526200-155531800	Weak transcription	Lung	lung
7	chr1:155526800-155531400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:155528800-155531400	Weak transcription	Placenta	Placenta
9	chr1:155529000-155534600	Active TSS	GM12878-XiMat	blood
10	chr1:155529200-155531400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:155530000-155531200	Enhancers	Primary B cells from cord blood	blood
12	chr1:155530000-155531200	Flanking Active TSS	Dnd41	blood
13	chr1:155530200-155534800	Active TSS	HSMMtube	muscle
14	chr1:155530400-155531000	Flanking Active TSS	HUVEC	blood vessel
15	chr1:155530400-155531400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:155530400-155531400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:155530400-155531800	Active TSS	Brain Germinal Matrix	brain
18	chr1:155530400-155534400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:155530400-155534800	Active TSS	NHLF	lung
20	chr1:155530600-155531000	Active TSS	Fetal Heart	heart
21	chr1:155530600-155531400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:155530600-155531400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:155530600-155531400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:155530600-155531400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:155530600-155531400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:155530600-155531400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:155530600-155531400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:155530600-155531400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:155530600-155531400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:155530600-155531400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:155530600-155531400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:155530600-155531400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:155530600-155531400	Weak transcription	Brain Hippocampus Middle	brain
34	chr1:155530600-155531400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:155530600-155531400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:155530600-155531400	Weak transcription	Brain Substantia Nigra	brain
37	chr1:155530600-155531400	Weak transcription	Colonic Mucosa	Colon
38	chr1:155530600-155531400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr1:155530600-155531400	Weak transcription	Fetal Intestine Small	intestine
40	chr1:155530600-155531400	Weak transcription	Fetal Lung	lung
41	chr1:155530600-155531400	Weak transcription	Left Ventricle	heart
42	chr1:155530600-155531400	Weak transcription	Pancreas	Pancrea
43	chr1:155530600-155531400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:155530600-155531400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:155530600-155531400	Weak transcription	Right Atrium	heart
46	chr1:155530600-155531400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr1:155530600-155531400	Weak transcription	Stomach Mucosa	stomach
48	chr1:155530600-155531400	Weak transcription	A549	lung
49	chr1:155530600-155531400	Weak transcription	HSMM	muscle
50	chr1:155530600-155531600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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