Variant report

Variant	rs144783176
Chromosome Location	chr5:180085999-180086000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 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	esv2762572	chr5:179996987-180183359	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	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
8	nsv883294	chr5:180010639-180094042	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv883295	chr5:180010639-180102226	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv883297	chr5:180033292-180094042	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	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
17	nsv830565	chr5:180067633-180191643	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	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
19	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
20	nsv1026991	chr5:180077614-180229093	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
21	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
22	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
23	nsv1030370	chr5:180080795-180216254	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv525183	chr5:180081766-180094042	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv3436224	chr5:180083446-180087744	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:180085800-180086000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:180085800-180086000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:180085800-180086000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
4	chr5:180085800-180086000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:180085800-180086000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:180085800-180086000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:180085800-180086000	Bivalent Enhancer	Brain Germinal Matrix	brain
8	chr5:180085800-180086000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
9	chr5:180085800-180086000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
10	chr5:180085800-180086000	Bivalent Enhancer	Fetal Brain Male	brain
11	chr5:180085800-180086000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
12	chr5:180085800-180086000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
13	chr5:180085800-180086200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr5:180085800-180086200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr5:180085800-180086200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr5:180085800-180086200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr5:180085800-180086200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:180085800-180086200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:180085800-180086200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr5:180085800-180086200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
21	chr5:180085800-180086200	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:180085800-180086200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr5:180085800-180086200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
24	chr5:180085800-180086200	Bivalent Enhancer	Spleen	Spleen
25	chr5:180085800-180086600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:180085800-180086600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr5:180085800-180086600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:180085800-180086600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr5:180085800-180086600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr5:180085800-180086600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr5:180085800-180086600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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