Variant report

Variant	rs74090495
Chromosome Location	chr1:77836445-77836446
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr1:77836147-77837316	SK-N-SH	brain:	n/a	chr1:77836324-77836340
2	JUND	chr1:77836366-77837470	SK-N-SH	brain:	n/a	n/a
3	EP300	chr1:77836202-77837142	SK-N-SH	brain:	n/a	chr1:77836438-77836454
4	RXRA	chr1:77836326-77837140	SK-N-SH	brain:	n/a	n/a
5	TEAD4	chr1:77836229-77837216	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr1:77836085-77837496	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr1:77836337-77837023	SK-N-SH_RA	brain:	n/a	n/a
8	JUND	chr1:77836231-77837224	SK-N-SH	brain:	n/a	n/a
9	MAFK	chr1:77836323-77837020	IMR90	lung:	n/a	n/a
10	GATA3	chr1:77836217-77837526	SK-N-SH	brain:	n/a	chr1:77837163-77837171 chr1:77837404-77837414 chr1:77837404-77837413 chr1:77837403-77837415 chr1:77837406-77837413 chr1:77837399-77837420 chr1:77837401-77837417
11	EP300	chr1:77836420-77837040	SK-N-SH_RA	brain:	n/a	chr1:77836438-77836454
12	NFIC	chr1:77836250-77837086	SK-N-SH	brain:	n/a	chr1:77836324-77836340
13	TEAD4	chr1:77836255-77837129	SK-N-SH	brain:	n/a	n/a
14	EP300	chr1:77836332-77837093	SK-N-SH	brain:	n/a	chr1:77836438-77836454
15	POLR2A	chr1:77836404-77836938	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr1:77836250-77837465	SK-N-SH	brain:	n/a	n/a
17	FOSL2	chr1:77836360-77837490	SK-N-SH	brain:	n/a	n/a
18	MAX	chr1:77836328-77837046	SK-N-SH	brain:	n/a	n/a
19	EP300	chr1:77836430-77837028	SK-N-SH_RA	brain:	n/a	chr1:77836438-77836454
20	SIN3AK20	chr1:77836385-77837010	SK-N-SH	brain:	n/a	n/a
21	TCF12	chr1:77836114-77837182	SK-N-SH	brain:	n/a	n/a
22	MAX	chr1:77836250-77837074	SK-N-SH	brain:	n/a	n/a
23	GATA3	chr1:77836257-77837264	SK-N-SH	brain:	n/a	chr1:77837163-77837171
24	PBX3	chr1:77836269-77837542	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr1:77836439-77836537	ProgFib	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:77836400-77836450	HCT-116	colon:	n/a
2	chr1:77836400-77836450	IMR90	lung:	fetal
3	chr1:77836400-77836450	Jurkat	blood:	n/a
4	chr1:77836400-77836450	HNPCEpiC	eye:	n/a
5	chr1:77836400-77836450	HRCEpiC	kidney:	n/a
6	chr1:77836400-77836450	SKMC	muscle:	n/a
7	chr1:77836400-77836450	AoSMC	blood vessel:	n/a
8	chr1:77836400-77836450	CMK	blood:	n/a
9	chr1:77836400-77836450	H1-hESC	embryonic stem cell:	embryo
10	chr1:77836400-77836450	HCF	heart:	n/a
11	chr1:77836400-77836450	NT2-D1	testis:	n/a
12	chr1:77836400-77836450	RPTEC	kidney:	n/a
13	chr1:77836400-77836450	HRPEpiC	eye:	n/a
14	chr1:77836400-77836450	Hepatocyte	liver:	n/a
15	chr1:77836400-77836450	MCF-7	breast:	n/a
16	chr1:77836400-77836450	AG04450	lung:	fetal
17	chr1:77836400-77836450	GM12892	blood:	n/a
18	chr1:77836400-77836450	HCM	heart:	n/a
19	chr1:77836400-77836450	HEK293	kidney:	embryo
20	chr1:77836400-77836450	ovcar-3	ovarian:	n/a
21	chr1:77836400-77836450	T-47D	breast:	n/a
22	chr1:77836400-77836450	HepG2	liver:	n/a
23	chr1:77836400-77836450	HEEpiC	esophagus:	n/a
24	chr1:77836400-77836450	U87	brain:	n/a
25	chr1:77836400-77836450	GM19239	blood:	n/a
26	chr1:77836400-77836450	SK-N-MC	brain:	n/a
27	chr1:77836400-77836450	GM06990	blood:	n/a
28	chr1:77836400-77836450	Caco-2	colon:	n/a
29	chr1:77836400-77836450	K562	blood:	n/a
30	chr1:77836400-77836450	AG04449	skin:	fetal
31	chr1:77836400-77836450	HIPEpiC	eye:	n/a
32	chr1:77836400-77836450	ECC-1	luminal epithelium:	n/a
33	chr1:77836400-77836450	A549	lung:	n/a
34	chr1:77836400-77836450	PFSK-1	brain:	n/a
35	chr1:77836400-77836450	MCF10A-Er-Src	breast:	n/a
36	chr1:77836400-77836450	PrEC	prostate:	n/a
37	chr1:77836400-77836450	AG10803	skin:	n/a
38	chr1:77836400-77836450	HRE	kidney:	n/a
39	chr1:77836400-77836450	NHBE	bronchial:	n/a
40	chr1:77836400-77836450	SK-N-SH_RA	brain:	n/a
41	chr1:77836400-77836450	HL-60	blood:	n/a
42	chr1:77836400-77836450	AG09309	skin:	n/a
43	chr1:77836400-77836450	BJ	skin:	n/a
44	chr1:77836400-77836450	ProgFib	skin:	n/a
45	chr1:77836400-77836450	NB4	blood:	n/a
46	chr1:77836400-77836450	GM12878	blood:	n/a
47	chr1:77836400-77836450	HCPEpiC	choroid plexus:	n/a
48	chr1:77836400-77836450	LNCaP	prostate:	n/a
49	chr1:77836400-77836450	GM12891	blood:	n/a
50	chr1:77836400-77836450	HUVEC	blood vessel:	n/a

No data

Variant related genes	Relation type
AK5	TF binding region
AK5	CpG island

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56099019	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57002064	1.00[AMR][1000 genomes]
rs58413428	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59621284	1.00[AMR][1000 genomes]
rs60276611	1.00[AMR][1000 genomes]
rs6700151	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090412	1.00[AMR][1000 genomes]
rs74090413	1.00[AMR][1000 genomes]
rs74090415	1.00[AMR][1000 genomes]
rs74090434	1.00[AMR][1000 genomes]
rs74090455	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090458	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090463	1.00[AMR][1000 genomes]
rs74090465	1.00[AMR][1000 genomes]
rs74090474	1.00[AMR][1000 genomes]
rs74090475	1.00[AMR][1000 genomes]
rs74090476	1.00[AMR][1000 genomes]
rs74090479	1.00[AMR][1000 genomes]
rs74090490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74090498	1.00[AFR][1000 genomes]
rs74092439	1.00[AMR][1000 genomes]
rs74092446	1.00[AMR][1000 genomes]
rs74092605	0.92[AFR][1000 genomes]
rs74092606	0.92[AFR][1000 genomes]
rs74092608	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv2764210	chr1:77825478-77838400	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77803400-77839200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:77834000-77839800	Enhancers	NHDF-Ad	bronchial
3	chr1:77834200-77836600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:77834200-77839000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:77835200-77837200	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:77835200-77838000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:77835600-77836600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:77835600-77837000	Enhancers	HSMMtube	muscle
9	chr1:77835600-77837200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:77835600-77837400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:77835600-77837400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:77835600-77837400	Enhancers	NH-A	brain
13	chr1:77835600-77838000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:77835800-77836600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:77835800-77837000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:77835800-77837000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:77835800-77837200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:77835800-77837200	Enhancers	Fetal Stomach	stomach
19	chr1:77835800-77837400	Enhancers	HMEC	breast
20	chr1:77835800-77846400	Weak transcription	Aorta	Aorta
21	chr1:77836000-77836600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:77836000-77837000	Weak transcription	Brain Angular Gyrus	brain
23	chr1:77836000-77837000	Enhancers	HSMM	muscle
24	chr1:77836000-77837400	Enhancers	Brain Hippocampus Middle	brain
25	chr1:77836000-77837800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:77836000-77837800	Enhancers	Osteobl	bone
27	chr1:77836400-77836600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:77836400-77836600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr1:77836400-77836600	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr1:77836400-77836600	Flanking Active TSS	NHLF	lung
31	chr1:77836400-77837000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:77836400-77837000	Enhancers	Brain Anterior Caudate	brain
33	chr1:77836400-77837200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:77836400-77837200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:77836400-77837400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:77836400-77837400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:77836400-77837800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:77836400-77838000	Enhancers	Primary T cells from cord blood	blood
39	chr1:77836400-77838000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr1:77836400-77838400	Enhancers	Primary T helper cells PMA-I stimulated	--

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