Variant report

Variant	rs10464092
Chromosome Location	chr5:179250093-179250094
allele	C/T
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	chr5:179245684-179255371	K562	blood:	n/a	n/a
2	SIN3AK20	chr5:179249322-179250144	PANC-1	pancreas:	n/a	n/a
3	TCF12	chr5:179245210-179250266	A549	lung:	n/a	chr5:179248789-179248799 chr5:179246679-179246689 chr5:179249700-179249710 chr5:179249664-179249671 chr5:179249663-179249673
4	POLR2A	chr5:179249231-179250099	A549	lung:	n/a	n/a
5	POLR2A	chr5:179247641-179250169	GM12891	blood:	n/a	n/a
6	HEY1	chr5:179246981-179253160	K562	blood:	n/a	chr5:179247882-179247897 chr5:179248424-179248439
7	POLR2A	chr5:179244943-179253663	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr5:179245675-179253142	IMR90	lung:	n/a	n/a
9	POLR2A	chr5:179245099-179253169	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:179249469-179250098	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:179246499-179250310	GM12891	blood:	n/a	n/a
12	CHD1	chr5:179245630-179250254	IMR90	lung:	n/a	chr5:179246143-179246153 chr5:179248854-179248864 chr5:179247583-179247593 chr5:179246320-179246330 chr5:179247813-179247823
13	POLR2A	chr5:179247176-179250134	GM12891	blood:	n/a	n/a
14	POLR2A	chr5:179249298-179250202	HL-60	blood:	n/a	n/a
15	POLR2A	chr5:179246339-179253344	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr5:179245601-179251055	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr5:179247434-179250094	HCT-116	colon:	n/a	n/a
18	HEY1	chr5:179248386-179250105	HepG2	liver:	n/a	chr5:179248424-179248439
19	POLR2A	chr5:179247346-179250273	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr5:179249457-179250117	A549	lung:	n/a	n/a
21	MAX	chr5:179244985-179250170	A549	lung:	n/a	chr5:179246557-179246568 chr5:179246558-179246568 chr5:179246557-179246568 chr5:179246557-179246567 chr5:179246556-179246569 chr5:179246328-179246338 chr5:179246557-179246567 chr5:179246558-179246568 chr5:179246556-179246569 chr5:179246556-179246569 chr5:179246211-179246220 chr5:179246557-179246568 chr5:179247807-179247817 chr5:179246553-179246572 chr5:179246558-179246567 chr5:179247553-179247562
22	BCL3	chr5:179248449-179250192	A549	lung:	n/a	chr5:179249722-179249731
23	POLR2A	chr5:179244976-179255423	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:179245201-179250146	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr5:179245117-179253233	HepG2	liver:	n/a	n/a
26	POLR2A	chr5:179244951-179255413	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr5:179249237-179250129	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr5:179245610-179253502	HepG2	liver:	n/a	n/a
29	POLR2A	chr5:179245309-179250365	GM12892	blood:	n/a	n/a
30	POLR2A	chr5:179247346-179253279	U87	brain:	n/a	n/a
31	POLR2A	chr5:179247516-179253185	K562	blood:	n/a	n/a
32	POLR2A	chr5:179245049-179250170	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr5:179245331-179251672	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr5:179247465-179250108	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr5:179247148-179250231	HCT-116	colon:	n/a	n/a
36	POLR2A	chr5:179247353-179250282	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr5:179247346-179253217	U87	brain:	n/a	n/a
38	MAZ	chr5:179245373-179250232	IMR90	lung:	n/a	chr5:179246557-179246568 chr5:179246558-179246568 chr5:179246557-179246568 chr5:179246557-179246567 chr5:179246556-179246569 chr5:179246328-179246338 chr5:179246557-179246567 chr5:179246558-179246568 chr5:179246556-179246569 chr5:179246556-179246569 chr5:179246211-179246220 chr5:179246557-179246568 chr5:179247807-179247817 chr5:179246553-179246572 chr5:179246558-179246567 chr5:179247553-179247562
39	POLR2A	chr5:179249190-179250414	K562	blood:	n/a	n/a
40	POLR2A	chr5:179245245-179255138	HepG2	liver:	n/a	n/a
41	POLR2A	chr5:179246929-179250778	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr5:179247585-179250312	GM12892	blood:	n/a	n/a
43	POLR2A	chr5:179247311-179253277	U87	brain:	n/a	n/a
44	POLR2A	chr5:179247403-179253353	K562	blood:	n/a	n/a
45	POLR2A	chr5:179249538-179250210	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr5:179246518-179253691	GM12878	blood:	n/a	n/a
47	POLR2A	chr5:179247326-179253400	U87	brain:	n/a	n/a
48	POLR2A	chr5:179249277-179250179	HepG2	liver:	n/a	n/a
49	POLR2A	chr5:179245098-179253238	K562	blood:	n/a	n/a
50	POLR2A	chr5:179244973-179255343	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179124533..179126912-chr5:179247842..179250922,3	K562	blood:
2	chr5:179047278..179052613-chr5:179246048..179251997,13	K562	blood:
3	chr5:179245762..179250347-chr5:179281858..179288397,17	MCF-7	breast:
4	chr5:179049088..179052063-chr5:179245796..179250145,6	MCF-7	breast:
5	chr5:179248037..179250293-chr5:179297490..179300093,2	K562	blood:
6	chr5:179246365..179250489-chr5:179281961..179288216,8	MCF-7	breast:
7	chr5:179157089..179164271-chr5:179242384..179250347,16	K562	blood:
8	chr5:179246544..179252042-chr5:179284250..179287282,6	K562	blood:
9	chr5:179247476..179250281-chr5:179333231..179336105,3	K562	blood:
10	chr5:179047831..179051506-chr5:179245810..179250436,9	MCF-7	breast:
11	chr5:179159426..179161743-chr5:179249637..179251731,2	MCF-7	breast:
12	chr5:179246564..179250154-chr5:179266751..179272341,6	MCF-7	breast:
13	chr5:179249726..179253531-chr5:179284409..179289652,9	K562	blood:
14	chr5:179249513..179251306-chr5:179288152..179289693,2	K562	blood:

Variant related genes	Relation type
SQSTM1	TF binding region
ENSG00000161010	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000245317	Chromatin interaction
ENSG00000161021	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3797775	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
7	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
8	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
9	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
10	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
11	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
12	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer 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	189 gene(s)	inside rSNPs	diseases
13	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179248000-179251200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
2	chr5:179248600-179250200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
3	chr5:179248600-179250200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
4	chr5:179248600-179251600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:179248600-179253000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:179248800-179250200	Enhancers	Small Intestine	intestine
7	chr5:179248800-179253000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:179249000-179250200	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
9	chr5:179249000-179250200	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:179249000-179250200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
11	chr5:179249000-179250200	Transcr. at gene 5' and 3'	Stomach Mucosa	stomach
12	chr5:179249000-179250200	Transcr. at gene 5' and 3'	Osteobl	bone
13	chr5:179249000-179250600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:179249000-179250600	Transcr. at gene 5' and 3'	NH-A	brain
15	chr5:179249000-179251600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
16	chr5:179249000-179251600	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
17	chr5:179249000-179251600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
18	chr5:179249000-179252000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:179249000-179252000	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
20	chr5:179249000-179253000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:179249000-179253000	Transcr. at gene 5' and 3'	A549	lung
22	chr5:179249000-179253000	Transcr. at gene 5' and 3'	Hela-S3	cervix
23	chr5:179249000-179253200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
24	chr5:179249200-179250200	Transcr. at gene 5' and 3'	Brain Angular Gyrus	brain
25	chr5:179249200-179250200	Transcr. at gene 5' and 3'	Right Ventricle	heart
26	chr5:179249200-179250800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
27	chr5:179249200-179251800	Transcr. at gene 5' and 3'	Liver	Liver
28	chr5:179249200-179252000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:179249200-179252400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
30	chr5:179249400-179250200	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:179249400-179250200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
32	chr5:179249400-179250200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr5:179249400-179250200	Transcr. at gene 5' and 3'	Aorta	Aorta
34	chr5:179249400-179250200	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
35	chr5:179249400-179250200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
36	chr5:179249400-179250200	Genic enhancers	Fetal Muscle Leg	muscle
37	chr5:179249400-179250200	Transcr. at gene 5' and 3'	Left Ventricle	heart
38	chr5:179249400-179250200	Transcr. at gene 5' and 3'	Lung	lung
39	chr5:179249400-179250200	Flanking Active TSS	Psoas Muscle	Psoas
40	chr5:179249400-179250200	Flanking Active TSS	Right Atrium	heart
41	chr5:179249400-179250200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
42	chr5:179249400-179250400	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
43	chr5:179249400-179250800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
44	chr5:179249400-179251600	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
45	chr5:179249400-179251600	Transcr. at gene 5' and 3'	NHLF	lung
46	chr5:179249400-179252200	Genic enhancers	Spleen	Spleen
47	chr5:179249400-179253000	Transcr. at gene 5' and 3'	HepG2	liver
48	chr5:179249400-179254800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr5:179249600-179250200	Genic enhancers	H1 Cell Line	embryonic stem cell
50	chr5:179249600-179250200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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