Variant report

Variant	rs547662657
Chromosome Location	chr1:155188406-155188407
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr1:155188283-155189102	A549	lung:	n/a	chr1:155188816-155188837
2	USF1	chr1:155188289-155189062	A549	lung:	n/a	chr1:155188816-155188837
3	POLR2A	chr1:155188268-155189011	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:155188063-155188946	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:155187963-155188988	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:155188386-155188438	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155187302..155192095-chr1:155195846..155198767,7	MCF-7	breast:
2	chr1:155175739..155181576-chr1:155185947..155190429,10	K562	blood:
3	chr1:155169679..155172666-chr1:155186873..155189391,3	MCF-7	breast:
4	chr1:155174605..155182734-chr1:155187211..155200915,43	MCF-7	breast:
5	chr1:155186661..155189522-chr1:155194169..155197986,6	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:
9	chr1:155187581..155189617-chr1:155195998..155199387,4	MCF-7	breast:

No data

Variant related genes	Relation type
GBAP1	TF binding region
ENSG00000236263	TF binding region
ENSG00000231064	Chromatin interaction
ENSG00000169231	Chromatin interaction
ENSG00000173171	Chromatin interaction
ENSG00000177628	Chromatin interaction
ENSG00000160766	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 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	nsv946411	chr1:155180147-155188968	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155179600-155189000	Weak transcription	Stomach Mucosa	stomach
2	chr1:155179600-155189200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:155179600-155189200	Weak transcription	Colonic Mucosa	Colon
4	chr1:155179600-155189200	Weak transcription	Psoas Muscle	Psoas
5	chr1:155179600-155195400	Weak transcription	Aorta	Aorta
6	chr1:155179600-155195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
8	chr1:155179600-155196600	Weak transcription	Gastric	stomach
9	chr1:155179600-155196600	Weak transcription	Small Intestine	intestine
10	chr1:155179800-155188600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:155179800-155188600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:155179800-155188800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:155179800-155188800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:155179800-155188800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:155179800-155189000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:155179800-155193800	Weak transcription	HSMMtube	muscle
17	chr1:155180000-155188600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:155180000-155188600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr1:155180000-155188600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:155180000-155188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:155180000-155188800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:155180000-155188800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:155180000-155189200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:155180000-155194000	Weak transcription	HUVEC	blood vessel
25	chr1:155180000-155195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:155180200-155188600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:155180200-155188600	Weak transcription	Fetal Kidney	kidney
28	chr1:155180200-155188600	Weak transcription	NHDF-Ad	bronchial
29	chr1:155180200-155188800	Weak transcription	NH-A	brain
30	chr1:155180200-155194000	Weak transcription	HSMM	muscle
31	chr1:155180600-155188600	Weak transcription	Hela-S3	cervix
32	chr1:155180600-155189000	Weak transcription	GM12878-XiMat	blood
33	chr1:155180600-155189600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:155180600-155195600	Weak transcription	HepG2	liver
35	chr1:155180800-155188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:155180800-155188600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr1:155180800-155188600	Weak transcription	K562	blood
38	chr1:155180800-155189000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:155181000-155189000	Weak transcription	Fetal Lung	lung
40	chr1:155182200-155188600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr1:155182200-155188800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:155182200-155189200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:155182200-155195800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:155182200-155196400	Weak transcription	Esophagus	oesophagus
45	chr1:155182200-155196600	Weak transcription	Lung	lung
46	chr1:155182400-155188600	Weak transcription	Liver	Liver
47	chr1:155182400-155188800	Weak transcription	Ovary	ovary
48	chr1:155182400-155189200	Weak transcription	Right Ventricle	heart
49	chr1:155182600-155196200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:155182800-155188800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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