Variant report

Variant	rs17854722
Chromosome Location	chr5:179225386-179225387
allele	A/G
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	chr5:179224667-179233676	HL-60	blood:	n/a	n/a
2	POLR2A	chr5:179225330-179225685	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr5:179225385-179225401	MCF-7	breast:	n/a	n/a
4	POLR2A	chr5:179225267-179225602	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:179224688-179234670	K562	blood:	n/a	n/a
6	POLR2A	chr5:179225377-179225419	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179123773..179127716-chr5:179220848..179225521,8	MCF-7	breast:
2	chr5:179221892..179226661-chr5:179285311..179287197,6	MCF-7	breast:

Variant related genes	Relation type
MIR1229	TF binding region
ENSG00000245317	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000161010	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12518252	1.00[EUR][1000 genomes]
rs12522031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1803458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28365148	1.00[EUR][1000 genomes]
rs34431802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6867485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6889133	1.00[EUR][1000 genomes]
rs73338108	1.00[EUR][1000 genomes]
rs73338109	1.00[EUR][1000 genomes]
rs7712695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7719163	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7729244	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv518964	chr5:179193598-179227286	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
7	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
10	nsv823361	chr5:179213324-179251243	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
11	nsv600659	chr5:179214251-179225594	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	147 gene(s)	inside rSNPs	diseases
12	nsv600660	chr5:179214251-179231248	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
13	nsv883278	chr5:179214818-179238794	Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
14	nsv883279	chr5:179214818-179248774	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
15	nsv870188	chr5:179218824-179235424	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
16	nsv600661	chr5:179220010-179228623	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
17	nsv600662	chr5:179220010-179231248	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
18	nsv883280	chr5:179220010-179238794	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
19	nsv883281	chr5:179220010-179250500	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
20	nsv883282	chr5:179220638-179231248	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
21	nsv883283	chr5:179220638-179231681	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
22	nsv883284	chr5:179220638-179246415	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription 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	158 gene(s)	inside rSNPs	diseases
23	nsv600663	chr5:179221789-179228369	Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	148 gene(s)	inside rSNPs	diseases
24	nsv600664	chr5:179221789-179228623	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	149 gene(s)	inside rSNPs	diseases
25	nsv600665	chr5:179221789-179231248	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
26	nsv600666	chr5:179221789-179231681	Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer 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	149 gene(s)	inside rSNPs	diseases
27	nsv600667	chr5:179223023-179229039	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	148 gene(s)	inside rSNPs	diseases
28	nsv883285	chr5:179223023-179238794	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	153 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179223600-179225600	Weak transcription	Small Intestine	intestine
2	chr5:179223600-179228800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:179223800-179225400	Genic enhancers	HMEC	breast
4	chr5:179223800-179228800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:179223800-179229600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:179223800-179231600	Weak transcription	Fetal Kidney	kidney
7	chr5:179223800-179231600	Weak transcription	Psoas Muscle	Psoas
8	chr5:179224000-179225400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:179224000-179225400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:179224000-179225400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr5:179224000-179225600	Weak transcription	HepG2	liver
12	chr5:179224000-179226000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:179224000-179226000	Weak transcription	NHDF-Ad	bronchial
14	chr5:179224000-179227400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:179224000-179227400	Strong transcription	Thymus	Thymus
16	chr5:179224000-179228200	Strong transcription	Fetal Thymus	thymus
17	chr5:179224000-179228400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr5:179224000-179228400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:179224000-179228600	Strong transcription	Dnd41	blood
20	chr5:179224000-179228800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:179224000-179229000	Strong transcription	A549	lung
22	chr5:179224000-179229000	Strong transcription	NHLF	lung
23	chr5:179224000-179229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:179224000-179229200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr5:179224000-179229200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:179224000-179229400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:179224000-179229600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:179224000-179230000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:179224000-179230000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:179224000-179230000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:179224000-179230800	Weak transcription	Right Atrium	heart
32	chr5:179224000-179232200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:179224200-179225400	Weak transcription	Brain Angular Gyrus	brain
34	chr5:179224200-179225600	Weak transcription	HUVEC	blood vessel
35	chr5:179224200-179225800	Weak transcription	HSMM	muscle
36	chr5:179224200-179226200	Weak transcription	Fetal Brain Male	brain
37	chr5:179224200-179227400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:179224200-179227800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:179224200-179227800	Weak transcription	Fetal Heart	heart
40	chr5:179224200-179228000	Strong transcription	Brain Anterior Caudate	brain
41	chr5:179224200-179228200	Strong transcription	Colon Smooth Muscle	Colon
42	chr5:179224200-179228400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:179224200-179228400	Strong transcription	Brain Hippocampus Middle	brain
44	chr5:179224200-179228400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr5:179224200-179228400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr5:179224200-179228600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr5:179224200-179228600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:179224200-179228600	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr5:179224200-179228600	Strong transcription	Fetal Brain Female	brain
50	chr5:179224200-179228800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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