Variant report

Variant	rs540479338
Chromosome Location	chr1:155152400-155152401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155143901..155153030-chr1:155191166..155199183,23	MCF-7	breast:
2	chr1:155110723..155112742-chr1:155150988..155153173,2	K562	blood:
3	chr1:155110723..155114225-chr1:155147854..155154401,7	K562	blood:

Variant related genes	Relation type
ENSG00000160766	Chromatin interaction
ENSG00000179085	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
4	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv1010146	chr1:155119096-155201064	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	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
11	nsv8447	chr1:155144629-155156937	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
12	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
13	nsv872458	chr1:155146102-155180466	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	316 gene(s)	inside rSNPs	diseases
14	nsv872459	chr1:155149718-155169633	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
15	nsv527682	chr1:155149718-155197462	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	361 gene(s)	inside rSNPs	diseases
16	nsv872460	chr1:155151493-155163181	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv872461	chr1:155151493-155169633	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription 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	308 gene(s)	inside rSNPs	diseases
18	nsv872462	chr1:155151493-155172177	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155146400-155157600	Weak transcription	Right Atrium	heart
2	chr1:155146600-155163000	Weak transcription	Aorta	Aorta
3	chr1:155147600-155157200	Weak transcription	Right Ventricle	heart
4	chr1:155148400-155157800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:155148800-155154800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:155148800-155155200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:155149000-155152600	Enhancers	Stomach Mucosa	stomach
8	chr1:155149000-155155400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:155149200-155152800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:155149400-155153000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:155149400-155157400	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr1:155149600-155152600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:155149600-155152600	Strong transcription	Primary hematopoietic stem cells	blood
14	chr1:155149600-155152600	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr1:155149600-155152600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:155149600-155152600	Strong transcription	NHLF	lung
17	chr1:155149600-155152800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:155149600-155152800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:155149600-155152800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:155149600-155152800	Strong transcription	Primary T cells from cord blood	blood
21	chr1:155149600-155153200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:155149600-155155000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:155149600-155156600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:155149600-155156800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr1:155149600-155157400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:155149600-155157400	Weak transcription	Fetal Intestine Large	intestine
27	chr1:155149600-155158000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:155149600-155158200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:155149600-155158800	Weak transcription	A549	lung
30	chr1:155149600-155162000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:155149600-155162600	Weak transcription	Small Intestine	intestine
32	chr1:155149600-155162800	Weak transcription	NHDF-Ad	bronchial
33	chr1:155149800-155152600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:155149800-155152600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:155149800-155152600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr1:155149800-155152600	Strong transcription	Brain Substantia Nigra	brain
37	chr1:155149800-155152800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:155149800-155152800	Strong transcription	Brain Hippocampus Middle	brain
39	chr1:155149800-155152800	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr1:155149800-155152800	Strong transcription	Fetal Thymus	thymus
41	chr1:155149800-155153000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:155149800-155153000	Strong transcription	Thymus	Thymus
43	chr1:155149800-155153400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:155149800-155154200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:155149800-155154400	Weak transcription	Fetal Intestine Small	intestine
46	chr1:155149800-155154400	Weak transcription	Lung	lung
47	chr1:155149800-155155000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:155149800-155155800	Weak transcription	Spleen	Spleen
49	chr1:155149800-155156600	Strong transcription	Brain Cingulate Gyrus	brain
50	chr1:155149800-155156800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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