Variant report

Variant	rs566486642
Chromosome Location	chr1:155185275-155185276
allele	A/C
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	chr1:155183859-155185301	GM12891	blood:	n/a	n/a
2	POLR2A	chr1:155185194-155185652	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:155183944-155185346	GM12892	blood:	n/a	n/a
4	POLR2A	chr1:155183802-155185604	GM12892	blood:	n/a	n/a
5	POLR2A	chr1:155180024-155185529	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:155184011-155186728	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:155184014-155185774	SK-N-MC	brain:	n/a	n/a
8	POLR2A	chr1:155183370-155185641	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr1:155183306-155185730	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr1:155183732-155185598	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:155185262-155185499	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:155183849-155185439	K562	blood:	n/a	n/a
13	POLR2A	chr1:155185186-155185513	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr1:155183879-155185483	GM12891	blood:	n/a	n/a
15	POLR2A	chr1:155184865-155185509	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:155185103-155185478	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155178845..155181651-chr1:155183857..155185772,2	MCF-7	breast:
2	chr1:155183199..155186042-chr1:155209567..155212010,2	K562	blood:

Variant related genes	Relation type
ENSG00000236263	TF binding region
ENSG00000177628	Chromatin interaction
ENSG00000173171	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155179600-155188200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:155179600-155189000	Weak transcription	Stomach Mucosa	stomach
3	chr1:155179600-155189200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:155179600-155189200	Weak transcription	Colonic Mucosa	Colon
5	chr1:155179600-155189200	Weak transcription	Psoas Muscle	Psoas
6	chr1:155179600-155195400	Weak transcription	Aorta	Aorta
7	chr1:155179600-155195800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:155179600-155196200	Weak transcription	Pancreas	Pancrea
9	chr1:155179600-155196600	Weak transcription	Gastric	stomach
10	chr1:155179600-155196600	Weak transcription	Small Intestine	intestine
11	chr1:155179800-155185400	Weak transcription	Brain Substantia Nigra	brain
12	chr1:155179800-155188600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:155179800-155188600	Weak transcription	Brain Angular Gyrus	brain
14	chr1:155179800-155188800	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr1:155179800-155188800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:155179800-155188800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:155179800-155189000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:155179800-155193800	Weak transcription	HSMMtube	muscle
19	chr1:155180000-155185400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:155180000-155185400	Weak transcription	Fetal Thymus	thymus
21	chr1:155180000-155188600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:155180000-155188600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:155180000-155188600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:155180000-155188600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:155180000-155188800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:155180000-155188800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr1:155180000-155189200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr1:155180000-155194000	Weak transcription	HUVEC	blood vessel
29	chr1:155180000-155195600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:155180200-155188200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:155180200-155188600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:155180200-155188600	Weak transcription	Fetal Kidney	kidney
33	chr1:155180200-155188600	Weak transcription	NHDF-Ad	bronchial
34	chr1:155180200-155188800	Weak transcription	NH-A	brain
35	chr1:155180200-155194000	Weak transcription	HSMM	muscle
36	chr1:155180600-155188600	Weak transcription	Hela-S3	cervix
37	chr1:155180600-155189000	Weak transcription	GM12878-XiMat	blood
38	chr1:155180600-155189600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr1:155180600-155195600	Weak transcription	HepG2	liver
40	chr1:155180800-155185400	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:155180800-155188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:155180800-155188600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:155180800-155188600	Weak transcription	K562	blood
44	chr1:155180800-155189000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:155181000-155189000	Weak transcription	Fetal Lung	lung
46	chr1:155182200-155185400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:155182200-155185400	Weak transcription	Primary B cells from cord blood	blood
48	chr1:155182200-155185400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:155182200-155185400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:155182200-155187800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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