Variant report

Variant	rs199978484
Chromosome Location	chr5:179723932-179723933
allele	-/A
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	CTCF	chr5:179723900-179724050	HEK293	kidney:	n/a	n/a
2	POLR2A	chr5:179723704-179724032	MCF-7	breast:	n/a	n/a
3	CTCF	chr5:179723920-179724070	GM12865	blood:	n/a	n/a
4	POLR2A	chr5:179723506-179724168	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:179723668-179723966	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr5:179723880-179724030	GM12873	blood:	n/a	n/a
7	CTCF	chr5:179723900-179724050	GM12868	blood:	n/a	n/a
8	CTCF	chr5:179723899-179724125	IMR90	lung:	n/a	n/a
9	CTCF	chr5:179723900-179724050	GM12873	blood:	n/a	n/a
10	GABPA	chr5:179723623-179724156	MCF-7	breast:	n/a	n/a
11	CTCF	chr5:179723920-179724070	Hela-S3	cervix:	n/a	n/a
12	ELF1	chr5:179723632-179724094	K562	blood:	n/a	chr5:179723876-179723889 chr5:179723837-179723850
13	GABPA	chr5:179723786-179724117	K562	blood:	n/a	n/a
14	GABPA	chr5:179723787-179724062	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179718669..179721180-chr5:179723191..179725367,4	K562	blood:
2	chr5:179723581..179725108-chr5:179754464..179757151,2	MCF-7	breast:
3	chr5:179716629..179721643-chr5:179722540..179727897,10	K562	blood:

Variant related genes	Relation type
MAPK9	TF binding region
ENSG00000248367	Chromatin interaction
ENSG00000050748	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	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
8	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv10787	chr5:179717724-179732388	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	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
12	esv3416178	chr5:179722996-179725694	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv2280993	chr5:179723689-179724097	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3332187	chr5:179723721-179724059	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3521576	chr5:179723750-179724034	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3521577	chr5:179723750-179724034	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3405773	chr5:179723757-179724086	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3430427	chr5:179723808-179723932	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179720000-179727400	Weak transcription	Ovary	ovary
2	chr5:179720600-179724800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:179720600-179725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:179720600-179726800	Weak transcription	Osteobl	bone
5	chr5:179720600-179727200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:179720600-179727200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:179720600-179727200	Weak transcription	HSMM	muscle
8	chr5:179720600-179727400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:179720600-179727400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:179720600-179727400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:179720600-179727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:179720600-179727600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:179720600-179727600	Weak transcription	NH-A	brain
14	chr5:179720600-179727800	Weak transcription	Aorta	Aorta
15	chr5:179720600-179727800	Weak transcription	Lung	lung
16	chr5:179720600-179728200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr5:179720600-179729600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:179720600-179730400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:179720600-179731400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:179720600-179739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr5:179720600-179742800	Weak transcription	Right Ventricle	heart
22	chr5:179720600-179743200	Weak transcription	Fetal Lung	lung
23	chr5:179720600-179756800	Weak transcription	NHDF-Ad	bronchial
24	chr5:179720600-179758400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:179720800-179724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:179720800-179727400	Weak transcription	Fetal Brain Female	brain
27	chr5:179720800-179727800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:179720800-179728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:179720800-179730200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:179720800-179743600	Weak transcription	Right Atrium	heart
31	chr5:179720800-179747000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:179721000-179724600	Weak transcription	Hela-S3	cervix
33	chr5:179721000-179726800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:179721000-179727000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:179721000-179727000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:179721000-179727200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:179721000-179727400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:179721000-179727600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:179721000-179727800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:179721000-179727800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:179721000-179728000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:179721000-179728000	Weak transcription	Brain Anterior Caudate	brain
43	chr5:179721000-179728000	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:179721000-179729400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:179721000-179730200	Weak transcription	Brain Angular Gyrus	brain
46	chr5:179721000-179730400	Weak transcription	Adipose Nuclei	Adipose
47	chr5:179721000-179733600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:179721000-179740800	Weak transcription	Esophagus	oesophagus
49	chr5:179721000-179741000	Weak transcription	Colon Smooth Muscle	Colon
50	chr5:179721000-179741200	Weak transcription	Fetal Brain Male	brain

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