Variant report

Variant	rs534223044
Chromosome Location	chr1:155190988-155190989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:155190969-155191089	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155187302..155192095-chr1:155195846..155198767,7	MCF-7	breast:
2	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:
3	chr1:155190873..155193241-chr1:155231143..155233279,2	MCF-7	breast:
4	chr1:155162028..155164533-chr1:155190701..155192344,2	MCF-7	breast:
5	chr1:155189654..155191436-chr1:155193964..155195496,2	K562	blood:
6	chr1:155175944..155179285-chr1:155187472..155192193,6	MCF-7	breast:
7	chr1:155187157..155191331-chr1:155209670..155212928,5	MCF-7	breast:
8	chr1:155170199..155172108-chr1:155187853..155191276,3	MCF-7	breast:

No data

Variant related genes	Relation type
GBAP1	TF binding region
ENSG00000177628	Chromatin interaction
ENSG00000231064	Chromatin interaction
ENSG00000185499	Chromatin interaction
ENSG00000160766	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000116521	Chromatin interaction
ENSG00000173171	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:36 , 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	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
12	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
13	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
14	esv2764209	chr1:155175657-155201064	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers 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 target site	77 gene(s)	inside rSNPs	diseases
15	nsv547963	chr1:155178746-155206167	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
16	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
17	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
18	esv3373583	chr1:155183155-155203622	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
19	esv3409536	chr1:155183691-155204364	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
20	nsv8469	chr1:155183945-155204572	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
21	esv3394856	chr1:155184707-155205412	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
22	esv3435735	chr1:155184757-155203179	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
23	esv3692913	chr1:155185951-155204010	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
24	nsv547964	chr1:155185951-155204010	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
25	esv2421617	chr1:155185951-155206167	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
26	esv3453087	chr1:155186728-155191926	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
27	esv3453088	chr1:155186728-155191926	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
28	nsv870387	chr1:155187481-155205523	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
29	nsv514011	chr1:155189136-155197120	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	68 gene(s)	inside rSNPs	diseases
30	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
31	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
32	nsv441717	chr1:155189160-155201060	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	72 gene(s)	inside rSNPs	diseases
33	esv1803666	chr1:155189160-155201064	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
34	esv1814530	chr1:155189160-155201064	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
35	esv2763713	chr1:155189160-155201064	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
36	esv3393504	chr1:155190128-155194426	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155179600-155195400	Weak transcription	Aorta	Aorta
2	chr1:155179600-155195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
4	chr1:155179600-155196600	Weak transcription	Gastric	stomach
5	chr1:155179600-155196600	Weak transcription	Small Intestine	intestine
6	chr1:155179800-155193800	Weak transcription	HSMMtube	muscle
7	chr1:155180000-155194000	Weak transcription	HUVEC	blood vessel
8	chr1:155180000-155195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:155180200-155194000	Weak transcription	HSMM	muscle
10	chr1:155180600-155195600	Weak transcription	HepG2	liver
11	chr1:155182200-155195800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:155182200-155196400	Weak transcription	Esophagus	oesophagus
13	chr1:155182200-155196600	Weak transcription	Lung	lung
14	chr1:155182600-155196200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:155182800-155194800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:155182800-155194800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:155182800-155196400	Weak transcription	Left Ventricle	heart
18	chr1:155186000-155195200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:155186600-155193000	Weak transcription	A549	lung
20	chr1:155186800-155193600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:155186800-155193600	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:155186800-155193600	Weak transcription	Thymus	Thymus
23	chr1:155187800-155196000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:155188000-155193800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:155188400-155191000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:155188600-155196600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:155188800-155191000	Enhancers	Primary hematopoietic stem cells	blood
28	chr1:155189000-155191000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:155189200-155192000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:155189200-155196000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:155189200-155196200	Enhancers	Primary B cells from cord blood	blood
32	chr1:155189400-155192800	Weak transcription	Fetal Stomach	stomach
33	chr1:155189400-155193600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:155189400-155193600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:155189400-155194000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:155189400-155194000	Weak transcription	NH-A	brain
37	chr1:155189400-155195400	Weak transcription	Liver	Liver
38	chr1:155189400-155195400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:155189400-155195800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:155189400-155196000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:155189400-155196000	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:155189400-155196000	Weak transcription	Fetal Lung	lung
43	chr1:155189400-155196200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:155189600-155194000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr1:155189600-155194000	Weak transcription	Osteobl	bone
46	chr1:155189600-155194400	Weak transcription	HMEC	breast
47	chr1:155189600-155194800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:155189600-155195400	Weak transcription	Fetal Brain Male	brain
49	chr1:155189600-155195600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:155189600-155195600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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