Variant report

Variant	rs4077796
Chromosome Location	chr5:178052597-178052598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr5:178052572-178054553	K562	blood:	n/a	chr5:178054227-178054237 chr5:178054223-178054233 chr5:178054544-178054553 chr5:178054333-178054340
2	MYC	chr5:178051369-178053564	MCF10A-Er-Src	breast:	n/a	n/a
3	ZNF384	chr5:178052303-178052660	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:178052453-178054216	K562	blood:	n/a	n/a
5	STAT3	chr5:178052430-178052600	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:178052458-178054533	GM12878	blood:	n/a	n/a
7	MYC	chr5:178052573-178054577	MCF10A-Er-Src	breast:	n/a	chr5:178054227-178054237 chr5:178054223-178054233 chr5:178054543-178054554 chr5:178054544-178054553 chr5:178054543-178054554 chr5:178054333-178054340
8	POLR2A	chr5:178052335-178054585	GM18505	blood:	n/a	n/a
9	POLR2A	chr5:178051355-178054657	HepG2	liver:	n/a	n/a
10	MAZ	chr5:178051632-178054946	IMR90	lung:	n/a	chr5:178054227-178054237 chr5:178054223-178054233 chr5:178054543-178054554 chr5:178054544-178054553 chr5:178054543-178054554 chr5:178054333-178054340
11	ARID3A	chr5:178052503-178054060	HepG2	liver:	n/a	n/a
12	IRF1	chr5:178052060-178054215	K562	blood:	n/a	chr5:178052640-178052654
13	MYC	chr5:178052021-178052974	K562	blood:	n/a	n/a
14	MAFK	chr5:178052557-178054290	Hela-S3	cervix:	n/a	n/a
15	WRNIP1	chr5:178051879-178054065	GM12878	blood:	n/a	n/a
16	EP300	chr5:178052564-178054205	K562	blood:	n/a	chr5:178054184-178054200 chr5:178053008-178053015
17	MXI1	chr5:178052477-178054611	GM12878	blood:	n/a	chr5:178054156-178054165
18	ARID3A	chr5:178051872-178052821	K562	blood:	n/a	n/a
19	MAFK	chr5:178052466-178053351	K562	blood:	n/a	n/a
20	POLR2A	chr5:178052593-178054672	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr5:178052425-178054844	GM12891	blood:	n/a	n/a
22	POLR2A	chr5:178051334-178054847	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr5:178052477-178054218	PBDE	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178052578-178052628	ProgFib	skin:	n/a
2	chr5:178052578-178052628	Caco-2	colon:	n/a
3	chr5:178052578-178052628	PrEC	prostate:	n/a
4	chr5:178052578-178052628	NHDF-neo	bronchial:	n/a
5	chr5:178052578-178052628	HCPEpiC	choroid plexus:	n/a
6	chr5:178052578-178052628	SK-N-SH	brain:	n/a
7	chr5:178052578-178052628	MCF10A-Er-Src	breast:	n/a
8	chr5:178052578-178052628	HAEpiC	amniotic membrane:	n/a
9	chr5:178052578-178052628	AG09309	skin:	n/a
10	chr5:178052578-178052628	AoSMC	blood vessel:	n/a
11	chr5:178052578-178052628	GM12892	blood:	n/a
12	chr5:178052578-178052628	HL-60	blood:	n/a
13	chr5:178052578-178052628	SK-N-SH_RA	brain:	n/a
14	chr5:178052578-178052628	RPTEC	kidney:	n/a
15	chr5:178052578-178052628	HMEC	breast:	n/a
16	chr5:178052578-178052628	Hepatocyte	liver:	n/a
17	chr5:178052578-178052628	T-47D	breast:	n/a
18	chr5:178052578-178052628	HCF	heart:	n/a
19	chr5:178052578-178052628	GM12891	blood:	n/a
20	chr5:178052578-178052628	GM19239	blood:	n/a
21	chr5:178052578-178052628	MCF-7	breast:	n/a
22	chr5:178052578-178052628	H1-hESC	embryonic stem cell:	embryo
23	chr5:178052578-178052628	NT2-D1	testis:	n/a
24	chr5:178052578-178052628	NH-A	brain:	n/a
25	chr5:178052578-178052628	ovcar-3	ovarian:	n/a
26	chr5:178052578-178052628	K562	blood:	n/a
27	chr5:178052578-178052628	SK-N-MC	brain:	n/a
28	chr5:178052578-178052628	PANC-1	pancreas:	n/a
29	chr5:178052578-178052628	IMR90	lung:	fetal
30	chr5:178052578-178052628	HPAEpiC	pulmonary alveolar:	n/a
31	chr5:178052578-178052628	HCT-116	colon:	n/a
32	chr5:178052578-178052628	HRCEpiC	kidney:	n/a
33	chr5:178052578-178052628	GM06990	blood:	n/a
34	chr5:178052578-178052628	HEEpiC	esophagus:	n/a
35	chr5:178052578-178052628	SAEC	small airway:	n/a
36	chr5:178052578-178052628	ECC-1	luminal epithelium:	n/a
37	chr5:178052578-178052628	NHBE	bronchial:	n/a
38	chr5:178052578-178052628	CMK	blood:	n/a
39	chr5:178052578-178052628	NB4	blood:	n/a
40	chr5:178052578-178052628	AG04450	lung:	fetal
41	chr5:178052578-178052628	A549	lung:	n/a
42	chr5:178052578-178052628	LNCaP	prostate:	n/a
43	chr5:178052578-178052628	AG09319	gingival:	n/a
44	chr5:178052578-178052628	PFSK-1	brain:	n/a
45	chr5:178052578-178052628	U87	brain:	n/a
46	chr5:178052578-178052628	HIPEpiC	eye:	n/a
47	chr5:178052578-178052628	Hela-S3	cervix:	n/a
48	chr5:178052578-178052628	GM12878	blood:	n/a
49	chr5:178052578-178052628	HRPEpiC	eye:	n/a
50	chr5:178052578-178052628	HCM	heart:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178029668..178031491-chr5:178050533..178053383,2	K562	blood:
2	chr5:177631376..177633067-chr5:178051942..178054079,2	K562	blood:
3	chr5:178017082..178020481-chr5:178051764..178053531,4	MCF-7	breast:
4	chr5:178019997..178022007-chr5:178050984..178053956,2	MCF-7	breast:
5	chr5:178051446..178054153-chr5:178157357..178158910,2	MCF-7	breast:
6	chr5:178050940..178053910-chr5:178263858..178266243,2	MCF-7	breast:
7	chr5:177650184..177652351-chr5:178050731..178052958,2	K562	blood:
8	chr5:177659087..177660769-chr5:178052015..178054177,2	K562	blood:
9	chr5:177658823..177661184-chr5:178051492..178053265,2	MCF-7	breast:
10	chr5:177631162..177632942-chr5:178051796..178054079,4	K562	blood:

No data

Variant related genes	Relation type
CLK4	TF binding region
CLK4	CpG island
ENSG00000050767	Chromatin interaction
ENSG00000169131	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000175309	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10035557	0.95[ASN][1000 genomes]
rs10051137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10061455	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10061883	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10064009	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10065419	0.85[ASN][1000 genomes]
rs10070794	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10073925	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10479501	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11742564	0.95[ASN][1000 genomes]
rs11744815	0.95[ASN][1000 genomes]
rs11748909	0.95[ASN][1000 genomes]
rs11953546	0.82[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12654185	0.90[ASN][1000 genomes]
rs12654187	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12719855	0.83[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs13161074	0.88[ASN][1000 genomes]
rs13187977	0.83[ASN][1000 genomes]
rs13360296	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1472457	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1967419	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2335442	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs262021	0.95[ASN][1000 genomes]
rs262028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs262036	0.95[ASN][1000 genomes]
rs388749	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4073633	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4079109	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4079111	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4079112	0.93[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4301240	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4413550	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4418123	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4437394	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4521498	0.95[ASN][1000 genomes]
rs4976798	0.95[ASN][1000 genomes]
rs60509476	0.82[ASN][1000 genomes]
rs6600942	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6866336	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6866952	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6869889	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6871074	0.97[ASN][1000 genomes]
rs6874126	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6877022	0.89[ASN][1000 genomes]
rs6881073	0.81[ASN][1000 genomes]
rs721142	0.95[ASN][1000 genomes]
rs721143	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs73353860	0.89[ASN][1000 genomes]
rs73353883	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs752043	0.92[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7707891	0.96[ASN][1000 genomes]
rs7715291	0.95[ASN][1000 genomes]
rs7720708	0.95[ASN][1000 genomes]
rs7736565	0.95[ASN][1000 genomes]
rs776153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr5:178031800-178052800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:178051000-178052600	Flanking Active TSS	Dnd41	blood
3	chr5:178051000-178053000	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr5:178051000-178053200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr5:178051000-178053400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr5:178051000-178053400	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr5:178051000-178054400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:178051000-178054600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr5:178051200-178052600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:178051200-178052600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr5:178051200-178053000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr5:178051200-178053400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr5:178051200-178053400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:178051200-178053400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr5:178051200-178054600	Active TSS	Aorta	Aorta
16	chr5:178051400-178052600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr5:178051400-178052600	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr5:178051400-178052600	Flanking Active TSS	Fetal Lung	lung
19	chr5:178051400-178052600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr5:178051400-178052600	Flanking Active TSS	Thymus	Thymus
21	chr5:178051400-178052600	Enhancers	Spleen	Spleen
22	chr5:178051400-178052800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr5:178051400-178052800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:178051400-178052800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr5:178051400-178052800	Flanking Active TSS	Hela-S3	cervix
26	chr5:178051400-178053000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr5:178051400-178053000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:178051400-178053000	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr5:178051400-178053200	Flanking Active TSS	Liver	Liver
30	chr5:178051400-178053200	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr5:178051400-178054400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:178051600-178052600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr5:178051600-178053000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr5:178051600-178053200	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr5:178051600-178054400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:178051600-178054600	Active TSS	NHDF-Ad	bronchial
37	chr5:178051600-178054600	Active TSS	NHLF	lung
38	chr5:178051800-178052600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr5:178051800-178052600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:178051800-178052600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr5:178051800-178052600	Enhancers	Small Intestine	intestine
42	chr5:178051800-178053200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr5:178051800-178054600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:178051800-178054600	Active TSS	HSMM	muscle
45	chr5:178051800-178054800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:178052000-178052800	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr5:178052000-178054200	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr5:178052000-178054200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:178052000-178054400	Active TSS	Fetal Intestine Large	intestine
50	chr5:178052000-178054400	Active TSS	Lung	lung

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