Variant report

Variant	rs12743554
Chromosome Location	chr1:155206713-155206714
allele	A/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	POLR2A	chr1:155206526-155206790	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155196524..155199471-chr1:155205933..155208728,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000216109	TF binding region
GBA	TF binding region
ENSG00000160766	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
4	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
5	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
6	nsv470741	chr1:155115260-155230131	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	381 gene(s)	inside rSNPs	diseases
7	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
8	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
9	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
10	nsv870053	chr1:155180349-155212316	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	esv13606	chr1:155180489-155221243	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
12	nsv1008748	chr1:155189148-155230610	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
13	nsv1011773	chr1:155189148-155234821	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
14	esv1793876	chr1:155194112-155212255	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
15	nsv946412	chr1:155204296-155207961	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv8480	chr1:155206335-155214536	Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155197200-155212800	Weak transcription	Small Intestine	intestine
2	chr1:155198000-155206800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:155198000-155209600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:155198000-155210400	Weak transcription	A549	lung
5	chr1:155198000-155210400	Weak transcription	HMEC	breast
6	chr1:155198000-155210400	Weak transcription	HSMM	muscle
7	chr1:155198000-155210600	Weak transcription	Psoas Muscle	Psoas
8	chr1:155198000-155210800	Weak transcription	Fetal Kidney	kidney
9	chr1:155198200-155207800	Weak transcription	NHLF	lung
10	chr1:155198200-155209600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:155198200-155209600	Weak transcription	Fetal Brain Male	brain
12	chr1:155198200-155210400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:155198200-155210400	Weak transcription	Stomach Mucosa	stomach
14	chr1:155198200-155210400	Weak transcription	NHEK	skin
15	chr1:155198200-155210800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:155198200-155210800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:155201200-155210400	Weak transcription	HepG2	liver
18	chr1:155201400-155210400	Weak transcription	K562	blood
19	chr1:155201400-155210600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:155201800-155210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:155202200-155210400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:155202600-155210400	Weak transcription	Right Atrium	heart
23	chr1:155202800-155210200	Weak transcription	Fetal Lung	lung
24	chr1:155203800-155210400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:155204600-155206800	Strong transcription	Aorta	Aorta
26	chr1:155204600-155209400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:155204600-155209400	Strong transcription	Spleen	Spleen
28	chr1:155204600-155209600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:155204600-155209600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:155204600-155209800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:155204600-155210000	Strong transcription	Fetal Intestine Small	intestine
32	chr1:155204800-155206800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:155204800-155207800	Strong transcription	Esophagus	oesophagus
34	chr1:155204800-155208000	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:155204800-155208200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:155204800-155208200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:155204800-155209800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr1:155205000-155208000	Strong transcription	Liver	Liver
39	chr1:155205000-155208200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:155205000-155209000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr1:155205000-155209400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:155205000-155209600	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:155205000-155209800	Strong transcription	Adipose Nuclei	Adipose
44	chr1:155205000-155209800	Strong transcription	Thymus	Thymus
45	chr1:155205200-155207600	Strong transcription	Fetal Brain Female	brain
46	chr1:155205200-155208000	Strong transcription	Brain Cingulate Gyrus	brain
47	chr1:155205200-155208200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:155205200-155208200	Strong transcription	Lung	lung
49	chr1:155205200-155208800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr1:155205200-155209400	Strong transcription	Fetal Thymus	thymus

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