Variant report

Variant	rs4301193
Chromosome Location	chr5:179049138-179049139
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr5:179047926-179049235	K562	blood:	n/a	chr5:179049058-179049072 chr5:179048803-179048817
2	POLR2A	chr5:179047206-179051952	GM12878	blood:	n/a	n/a
3	GATA3	chr5:179048795-179049367	SH-SY5Y	brain:	n/a	chr5:179049190-179049198
4	GATA1	chr5:179047367-179049842	PBDE	blood:	n/a	chr5:179049745-179049762
5	CHD1	chr5:179047686-179052125	IMR90	lung:	n/a	chr5:179050801-179050811 chr5:179051151-179051161
6	POLR2A	chr5:179046881-179049431	K562	blood:	n/a	n/a
7	POLR2A	chr5:179046685-179051229	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:179046804-179051909	U87	brain:	n/a	n/a
9	POLR2A	chr5:179046855-179052674	HepG2	liver:	n/a	n/a
10	POLR2A	chr5:179047240-179052213	SK-N-MC	brain:	n/a	n/a
11	MYC	chr5:179049061-179049249	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:179047285-179051399	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr5:179047201-179051828	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:179047352-179049277	HepG2	liver:	n/a	n/a
15	POLR2A	chr5:179039431-179049902	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:179047348-179049252	IMR90	lung:	n/a	n/a
17	POLR2A	chr5:179047240-179049937	GM12892	blood:	n/a	n/a
18	SIN3A	chr5:179048735-179049304	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr5:179047237-179052054	GM12892	blood:	n/a	n/a
20	POLR2A	chr5:179047170-179049231	U87	brain:	n/a	n/a
21	POLR2A	chr5:179047230-179049921	GM12891	blood:	n/a	n/a
22	HEY1	chr5:179048562-179049498	HepG2	liver:	n/a	n/a
23	POLR2A	chr5:179046790-179052167	PANC-1	pancreas:	n/a	n/a
24	TAL1	chr5:179047469-179051205	K562	blood:	n/a	n/a
25	CHD1	chr5:179048407-179051414	H1-hESC	embryonic stem cell:	n/a	chr5:179050801-179050811 chr5:179051151-179051161
26	POLR2A	chr5:179047292-179049924	GM12892	blood:	n/a	n/a
27	POLR2A	chr5:179046078-179049406	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:179046731-179051978	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr5:179049079-179049415	GM12891	blood:	n/a	n/a
30	POLR2A	chr5:179047364-179049247	A549	lung:	n/a	n/a
31	POLR2A	chr5:179046899-179052266	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr5:179047845-179049445	K562	blood:	n/a	n/a
33	GATA2	chr5:179048653-179049451	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr5:179048570-179049153	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr5:179047285-179051765	MCF10A-Er-Src	breast:	n/a	n/a
36	RFX5	chr5:179048019-179049272	K562	blood:	n/a	n/a
37	POLR2A	chr5:179049138-179049933	GM12891	blood:	n/a	n/a
38	POLR2A	chr5:179049136-179051972	GM12892	blood:	n/a	n/a
39	POLR2A	chr5:179043848-179051855	MCF-7	breast:	n/a	n/a
40	POLR2A	chr5:179046694-179049912	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr5:179047671-179052143	K562	blood:	n/a	n/a
42	POLR2A	chr5:179047255-179052025	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr5:179046884-179052061	GM12891	blood:	n/a	n/a
44	KAP1	chr5:179048200-179049350	K562	blood:	n/a	n/a
45	POLR2A	chr5:179046931-179052092	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr5:179046889-179051904	GM12878	blood:	n/a	n/a
47	POLR2A	chr5:179047358-179049310	PBDE	blood:	n/a	n/a
48	POLR2A	chr5:179046832-179051357	SK-N-SH	brain:	n/a	n/a
49	HEY1	chr5:179047688-179049932	K562	blood:	n/a	n/a
50	POLR2A	chr5:179046804-179051915	U87	brain:	n/a	n/a

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179049028..179050758-chr5:179230503..179232044,2	K562	blood:
2	chr15:69753495..69755844-chr5:179048677..179051620,2	MCF-7	breast:
3	chr5:179048674..179050755-chr5:179131427..179133888,2	MCF-7	breast:
4	chr5:178993088..178996882-chr5:179048174..179052059,4	K562	blood:
5	chr5:179047581..179051358-chr5:179102429..179108878,16	K562	blood:
6	chr5:179048487..179050192-chr5:179084037..179087067,3	K562	blood:
7	chr5:179049088..179052063-chr5:179245796..179250145,6	MCF-7	breast:
8	chr5:179003044..179005228-chr5:179048934..179051877,3	K562	blood:
9	chr5:179047278..179052613-chr5:179246048..179251997,13	K562	blood:
10	chr5:178985192..178988541-chr5:179048594..179052191,5	MCF-7	breast:
11	chr5:179013908..179017053-chr5:179048415..179051520,3	K562	blood:
12	chr5:179047959..179050192-chr5:179084037..179087067,3	K562	blood:
13	chr5:179049042..179051273-chr5:179225764..179228331,2	MCF-7	breast:
14	chr5:179047637..179052326-chr5:179245599..179249536,7	K562	blood:
15	chr5:179047831..179051506-chr5:179245810..179250436,9	MCF-7	breast:
16	chr5:179023314..179026919-chr5:179048927..179051890,4	MCF-7	breast:
17	chr5:177631876..177633528-chr5:179047045..179049302,2	MCF-7	breast:
18	chr5:179048811..179053260-chr5:179101652..179108160,8	MCF-7	breast:
19	chr5:178975871..178983601-chr5:179047224..179052413,15	K562	blood:
20	chr5:179048743..179051829-chr5:179229515..179233744,4	MCF-7	breast:
21	chr5:178989508..178991362-chr5:179048413..179051335,2	MCF-7	breast:
22	chr5:179048156..179052144-chr5:179103013..179109071,12	K562	blood:
23	chr5:178975440..178984076-chr5:179047224..179053131,17	K562	blood:
24	chr5:179048548..179052839-chr5:179221765..179224480,6	MCF-7	breast:
25	chr5:179049048..179052854-chr5:179122221..179127718,16	MCF-7	breast:
26	chr5:178976539..178978410-chr5:179046983..179049342,2	MCF-7	breast:
27	chr5:179047558..179053114-chr5:179123905..179129187,22	K562	blood:
28	chr5:179048168..179052824-chr5:179156969..179161337,9	MCF-7	breast:
29	chr12:56509933..56510823-chr5:179048605..179049245,2	Hela-S3	cervix:
30	chr5:179045239..179052804-chr5:179123707..179130726,40	K562	blood:

No data

Variant related genes	Relation type
HNRNPH1	TF binding region
ENSG00000204659	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000259215	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000250999	Chromatin interaction
ENSG00000245750	Chromatin interaction
ENSG00000176783	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10069599	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28651733	0.92[AFR][1000 genomes]
rs4590149	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7727256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv883273	chr5:179045142-179086833	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
6	nsv823357	chr5:179046318-179058193	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	101 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	chr5:179044400-179049400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
2	chr5:179044400-179049800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:179044400-179050600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr5:179044600-179049800	Transcr. at gene 5' and 3'	A549	lung
5	chr5:179044800-179049400	Transcr. at gene 5' and 3'	K562	blood
6	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr5:179044800-179049800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:179045000-179051200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:179045200-179049200	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
10	chr5:179045200-179049400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
11	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Hela-S3	cervix
12	chr5:179045600-179049400	Transcr. at gene 5' and 3'	NH-A	brain
13	chr5:179045600-179049400	Transcr. at gene 5' and 3'	Osteobl	bone
14	chr5:179045600-179049800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:179045600-179049800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
16	chr5:179045600-179049800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:179045600-179049800	Transcr. at gene 5' and 3'	Fetal Lung	lung
18	chr5:179045600-179050200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
19	chr5:179045800-179049400	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
20	chr5:179045800-179049400	Transcr. at gene 5' and 3'	HMEC	breast
21	chr5:179045800-179049400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
22	chr5:179045800-179049600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
23	chr5:179045800-179049800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:179045800-179050400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
25	chr5:179046000-179049200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:179046000-179049200	Transcr. at gene 5' and 3'	NHEK	skin
27	chr5:179046000-179049400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
28	chr5:179046000-179049400	Transcr. at gene 5' and 3'	HepG2	liver
29	chr5:179046000-179049400	Transcr. at gene 5' and 3'	HSMM	muscle
30	chr5:179046000-179049600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:179046000-179049800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:179046000-179049800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:179046000-179050200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:179046000-179051200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
35	chr5:179046200-179049200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:179046200-179049200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
37	chr5:179046200-179049400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
38	chr5:179046200-179049400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
39	chr5:179046200-179049400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
40	chr5:179046200-179049400	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr5:179046200-179049600	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
42	chr5:179046200-179049600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:179046200-179049600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:179046200-179049600	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
45	chr5:179046200-179049800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:179046200-179049800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
47	chr5:179046200-179049800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
48	chr5:179046200-179050200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:179046400-179049200	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
50	chr5:179046400-179049800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell

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