Variant report

Variant	rs371270389
Chromosome Location	chr1:155144887-155144888
allele	C/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	chr1:155144879-155146055	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr1:155144872-155146843	SK-N-SH	brain:	n/a	n/a
3	RCOR1	chr1:155144521-155146216	IMR90	lung:	n/a	n/a
4	POLR2A	chr1:155144886-155146738	U87	brain:	n/a	n/a
5	MAZ	chr1:155144752-155147504	IMR90	lung:	n/a	chr1:155146251-155146266 chr1:155146974-155146983 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146978-155146987 chr1:155146253-155146263
6	POLR2A	chr1:155144504-155147249	SK-N-MC	brain:	n/a	n/a
7	REST	chr1:155144867-155147716	H1-neurons	neurons:	n/a	chr1:155146997-155147010 chr1:155146997-155147010 chr1:155147558-155147571
8	MAX	chr1:155144757-155146888	A549	lung:	n/a	chr1:155146251-155146266 chr1:155146252-155146262 chr1:155146252-155146261 chr1:155146253-155146262 chr1:155146253-155146263
9	POLR2A	chr1:155144534-155144912	HepG2	liver:	n/a	n/a
10	MXI1	chr1:155144639-155149713	SK-N-SH	brain:	n/a	chr1:155146252-155146261 chr1:155146254-155146263 chr1:155146972-155146987 chr1:155146974-155146989 chr1:155146863-155146872
11	HCFC1	chr1:155144135-155146295	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:155144878-155146031	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr1:155144868-155146601	SK-N-SH	brain:	n/a	n/a
14	JUN	chr1:155144875-155146733	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155102095..155105261-chr1:155144437..155147447,3	K562	blood:
2	chr1:155056284..155060443-chr1:155143066..155147437,8	MCF-7	breast:
3	chr1:155143901..155153030-chr1:155191166..155199183,23	MCF-7	breast:
4	chr1:155056491..155066482-chr1:155136760..155147519,21	K562	blood:
5	chr1:155144108..155147671-chr1:155293137..155296373,4	MCF-7	breast:
6	chr1:155095314..155110392-chr1:155134312..155151496,72	MCF-7	breast:
7	chr1:155056751..155059603-chr1:155143653..155146036,8	MCF-7	breast:
8	chr1:155021786..155024285-chr1:155144264..155145774,2	MCF-7	breast:
9	chr1:155055553..155060043-chr1:155139937..155145817,8	K562	blood:
10	chr1:155143848..155145847-chr1:155292739..155294361,2	K562	blood:
11	chr1:155105664..155110180-chr1:155143584..155151850,15	MCF-7	breast:
12	chr1:155107108..155109985-chr1:155144527..155147858,5	K562	blood:
13	chr1:155144509..155147724-chr1:155241916..155244574,3	MCF-7	breast:
14	chr1:155021809..155025289-chr1:155144477..155147497,3	K562	blood:
15	chr1:155094769..155105017-chr1:155135344..155151845,46	MCF-7	breast:
16	chr1:155144282..155146428-chr1:155196994..155199261,3	K562	blood:
17	chr1:155015970..155018698-chr1:155144403..155146699,2	K562	blood:

Variant related genes	Relation type
TRIM46	TF binding region
ENSG00000225855	Chromatin interaction
ENSG00000169241	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000160753	Chromatin interaction
ENSG00000169242	Chromatin interaction
ENSG00000143590	Chromatin interaction
ENSG00000232093	Chromatin interaction
ENSG00000176444	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155134200-155145000	Weak transcription	Small Intestine	intestine
2	chr1:155142400-155145000	Weak transcription	Pancreas	Pancrea
3	chr1:155142600-155145000	Weak transcription	Esophagus	oesophagus
4	chr1:155143200-155145000	Weak transcription	Aorta	Aorta
5	chr1:155143600-155145000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:155143600-155145000	Weak transcription	Ovary	ovary
7	chr1:155144200-155145000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:155144200-155145000	Weak transcription	Lung	lung
9	chr1:155144400-155145000	Enhancers	Primary T cells from cord blood	blood
10	chr1:155144400-155145000	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:155144400-155145000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:155144400-155145000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr1:155144400-155145000	Enhancers	Fetal Heart	heart
14	chr1:155144400-155145200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:155144400-155145200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:155144600-155145000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:155144600-155145000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:155144600-155145000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:155144600-155145000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:155144600-155145000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:155144600-155145000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:155144600-155145000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr1:155144600-155145000	Enhancers	Primary B cells from cord blood	blood
24	chr1:155144600-155145000	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:155144600-155145000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr1:155144600-155145000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:155144600-155145000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:155144600-155145000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:155144600-155145000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:155144600-155145000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:155144600-155145000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:155144600-155145000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:155144600-155145000	Enhancers	Brain Substantia Nigra	brain
34	chr1:155144600-155145000	Enhancers	Fetal Lung	lung
35	chr1:155144600-155145000	Enhancers	Placenta	Placenta
36	chr1:155144600-155145000	Enhancers	Left Ventricle	heart
37	chr1:155144600-155145000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr1:155144600-155145000	Enhancers	Stomach Mucosa	stomach
39	chr1:155144600-155145000	Flanking Active TSS	A549	lung
40	chr1:155144600-155145000	Flanking Active TSS	NHDF-Ad	bronchial
41	chr1:155144600-155145000	Flanking Active TSS	NHLF	lung
42	chr1:155144600-155145200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:155144600-155145200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr1:155144600-155145200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:155144600-155145200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr1:155144600-155145200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr1:155144600-155145200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:155144600-155145200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:155144600-155145200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:155144600-155145200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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