Variant report

Variant	rs545770774
Chromosome Location	chr5:180229209-180229210
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:80187483..80187983-chr5:180229091..180229625,2	Hela-S3	cervix:
2	chr5:180226030..180229620-chr5:180255411..180258955,4	K562	blood:
3	chr5:40835246..40835914-chr5:180228933..180229470,2	Hela-S3	cervix:
4	chr5:180227912..180229802-chr5:180527459..180529455,2	K562	blood:
5	chr21:34602670..34603176-chr5:180229179..180229749,2	NB4	blood:
6	chr5:180229102..180229758-chr5:180237619..180238245,2	MCF-7	breast:
7	chr5:180227369..180230069-chr5:180671459..180674771,3	MCF-7	breast:
8	chr14:24422551..24423442-chr5:180229136..180229785,2	HCT-116	colon:
9	chr5:180208930..180211085-chr5:180226767..180229407,2	K562	blood:
10	chr5:180227414..180232885-chr5:180286019..180290085,8	K562	blood:
11	chr5:180228019..180233439-chr5:180285963..180289843,10	MCF-7	breast:
12	chr5:179718120..179720283-chr5:180227933..180230146,2	MCF-7	breast:
13	chr5:180228465..180230563-chr5:180681339..180683622,2	MCF-7	breast:
14	chr5:180228489..180231362-chr5:180631934..180633728,2	MCF-7	breast:
15	chr5:141302965..141303777-chr5:180228742..180229546,2	Hela-S3	cervix:
16	chr5:180228338..180229866-chr5:180648635..180650679,2	MCF-7	breast:
17	chr5:180228575..180230835-chr5:180669512..180671482,2	K562	blood:
18	chr5:180228090..180233792-chr5:180285929..180290144,13	MCF-7	breast:
19	chr5:180227376..180231453-chr5:180286019..180289801,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000081791	Chromatin interaction
ENSG00000196670	Chromatin interaction
ENSG00000204628	Chromatin interaction
ENSG00000245060	Chromatin interaction
ENSG00000214295	Chromatin interaction
ENSG00000159110	Chromatin interaction
ENSG00000146063	Chromatin interaction
ENSG00000157326	Chromatin interaction
ENSG00000233937	Chromatin interaction
ENSG00000146054	Chromatin interaction
ENSG00000248514	Chromatin interaction
ENSG00000131446	Chromatin interaction
ENSG00000050748	Chromatin interaction
ENSG00000268397	Chromatin interaction
ENSG00000248367	Chromatin interaction
ENSG00000145592	Chromatin interaction
ENSG00000215256	Chromatin interaction
ENSG00000264549	Chromatin interaction
ENSG00000264732	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
2	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
6	nsv533204	chr5:180008319-180273638	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
7	nsv1015152	chr5:180014800-180567614	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
8	nsv537987	chr5:180014800-180567614	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
9	nsv1034993	chr5:180059323-180686563	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	161 gene(s)	inside rSNPs	diseases
10	nsv534263	chr5:180063182-180696806	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	166 gene(s)	inside rSNPs	diseases
11	nsv1033330	chr5:180063241-180256969	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv537988	chr5:180063241-180256969	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv1029282	chr5:180069992-180251755	Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
14	nsv1025669	chr5:180069992-180686563	Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	161 gene(s)	inside rSNPs	diseases
15	esv2757149	chr5:180079970-180245224	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
16	esv2759399	chr5:180079970-180281476	Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
17	esv2758033	chr5:180087198-180281476	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
18	nsv537993	chr5:180119301-180686563	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
19	nsv1026978	chr5:180137823-180686563	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	157 gene(s)	inside rSNPs	diseases
20	nsv949443	chr5:180144688-180503368	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
21	nsv1032677	chr5:180151997-180686563	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	157 gene(s)	inside rSNPs	diseases
22	nsv1016991	chr5:180152407-180256970	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
23	nsv537994	chr5:180152407-180256970	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
24	nsv469692	chr5:180185452-180360834	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
25	nsv482702	chr5:180185452-180360834	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
26	nsv1022107	chr5:180203044-180686563	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
27	nsv1033854	chr5:180208441-180686563	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
28	nsv537995	chr5:180208441-180686563	Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
29	nsv1033472	chr5:180208501-180575682	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
30	nsv537996	chr5:180208501-180575682	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
31	nsv469788	chr5:180210102-180403232	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
32	nsv482337	chr5:180210102-180403232	Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
33	nsv1018788	chr5:180216969-180686563	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
34	nsv1024379	chr5:180217029-180686563	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
35	nsv537997	chr5:180217029-180686563	Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
36	nsv1032399	chr5:180229033-180429831	Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
37	nsv537998	chr5:180229033-180429831	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
38	nsv1027391	chr5:180229033-180447744	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
39	nsv1018245	chr5:180229033-180686563	Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases
40	nsv537999	chr5:180229033-180686563	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	155 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180228000-180229400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:180228200-180230000	Active TSS	Right Ventricle	heart
3	chr5:180228400-180229400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr5:180228800-180229600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr5:180228800-180229600	Flanking Active TSS	Fetal Brain Male	brain
6	chr5:180228800-180230000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:180228800-180230200	Active TSS	NHLF	lung
8	chr5:180228800-180230600	Active TSS	Lung	lung
9	chr5:180228800-180230800	Active TSS	Small Intestine	intestine
10	chr5:180228800-180231000	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr5:180229000-180229400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:180229000-180229400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:180229000-180229400	Active TSS	Right Atrium	heart
14	chr5:180229000-180229400	Weak transcription	Spleen	Spleen
15	chr5:180229000-180229400	Flanking Active TSS	Dnd41	blood
16	chr5:180229000-180230000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:180229000-180230000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:180229000-180230000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:180229000-180230000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:180229000-180230000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:180229000-180230000	Active TSS	Colonic Mucosa	Colon
22	chr5:180229000-180230000	Weak transcription	Fetal Heart	heart
23	chr5:180229000-180230000	Active TSS	Placenta	Placenta
24	chr5:180229000-180230000	Active TSS	Pancreas	Pancrea
25	chr5:180229000-180230000	Active TSS	Stomach Smooth Muscle	stomach
26	chr5:180229000-180230000	Active TSS	A549	lung
27	chr5:180229000-180230000	Active TSS	HSMM	muscle
28	chr5:180229000-180230000	Active TSS	HUVEC	blood vessel
29	chr5:180229000-180230200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:180229000-180230200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:180229000-180230200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:180229000-180230200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:180229000-180230200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:180229000-180230200	Active TSS	Brain Anterior Caudate	brain
35	chr5:180229000-180230200	Active TSS	Esophagus	oesophagus
36	chr5:180229000-180230200	Active TSS	Fetal Kidney	kidney
37	chr5:180229000-180230200	Active TSS	Left Ventricle	heart
38	chr5:180229000-180230200	Active TSS	Placenta Amnion	Placenta Amnion
39	chr5:180229000-180230200	Active TSS	Stomach Mucosa	stomach
40	chr5:180229000-180230200	Active TSS	HSMMtube	muscle
41	chr5:180229000-180230200	Active TSS	K562	blood
42	chr5:180229000-180230200	Active TSS	NHDF-Ad	bronchial
43	chr5:180229000-180230200	Active TSS	NHEK	skin
44	chr5:180229000-180230200	Active TSS	Osteobl	bone
45	chr5:180229000-180230400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr5:180229000-180230400	Active TSS	H1 Cell Line	embryonic stem cell
47	chr5:180229000-180230400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr5:180229000-180230400	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr5:180229000-180230400	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr5:180229000-180230400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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