Variant report

Variant	rs62456793
Chromosome Location	chr7:64254756-64254757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:400)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr7:64254523-64255262	K562	blood:	n/a	n/a
2	IRF1	chr7:64254547-64254984	K562	blood:	n/a	chr7:64254830-64254847 chr7:64254835-64254847
3	ELF1	chr7:64254577-64254925	A549	lung:	n/a	n/a
4	JUND	chr7:64254474-64255270	H1-hESC	embryonic stem cell:	n/a	chr7:64254950-64254961
5	YY1	chr7:64254444-64255241	SK-N-SH_RA	brain:	n/a	chr7:64254791-64254800
6	MTA3	chr7:64254534-64255239	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:64254458-64255275	GM12892	blood:	n/a	n/a
8	SIN3AK20	chr7:64254694-64255315	H1-hESC	embryonic stem cell:	n/a	n/a
9	GABPA	chr7:64254329-64255296	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr7:64254485-64255310	GM18526	blood:	n/a	n/a
11	POLR2A	chr7:64254664-64255163	IMR90	lung:	n/a	n/a
12	TAF1	chr7:64254554-64255248	HepG2	liver:	n/a	n/a
13	POU2F2	chr7:64254744-64254929	GM12878	blood:	n/a	chr7:64254788-64254800
14	PBX3	chr7:64254339-64255178	SK-N-SH	brain:	n/a	chr7:64254678-64254687
15	ZNF143	chr7:64254532-64255037	K562	blood:	n/a	n/a
16	TBP	chr7:64254506-64255114	K562	blood:	n/a	n/a
17	POLR2A	chr7:64254433-64255247	GM19099	blood:	n/a	n/a
18	NFYA	chr7:64254445-64255034	Hela-S3	cervix:	n/a	chr7:64254714-64254727 chr7:64254714-64254728 chr7:64254716-64254726
19	ELK1	chr7:64254605-64255225	GM12878	blood:	n/a	n/a
20	POLR2A	chr7:64254598-64255039	HUVEC	blood vessel:	n/a	n/a
21	TBL1XR1	chr7:64254612-64255232	K562	blood:	n/a	n/a
22	REST	chr7:64254662-64254983	A549	lung:	n/a	chr7:64254814-64254827
23	STAT3	chr7:64254745-64254914	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr7:64254626-64254997	U87	brain:	n/a	n/a
25	CHD1	chr7:64254720-64255143	GM12878	blood:	n/a	n/a
26	MYC	chr7:64254753-64254759	MCF-7	breast:	n/a	n/a
27	TCF12	chr7:64254521-64255099	A549	lung:	n/a	n/a
28	FOS	chr7:64254535-64254933	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:64254482-64255059	HCT-116	colon:	n/a	n/a
30	MXI1	chr7:64254653-64255250	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:64254517-64255211	GM10847	blood:	n/a	n/a
32	TBP	chr7:64254543-64254961	Hela-S3	cervix:	n/a	n/a
33	MYC	chr7:64254453-64255237	NB4	blood:	n/a	chr7:64254694-64254704 chr7:64254789-64254799
34	ZMIZ1	chr7:64254453-64255425	K562	blood:	n/a	n/a
35	ATF2	chr7:64254596-64255022	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBL1XR1	chr7:64254543-64255034	K562	blood:	n/a	n/a
37	POLR2A	chr7:64254488-64255043	SK-N-MC	brain:	n/a	n/a
38	TEAD4	chr7:64254441-64255355	K562	blood:	n/a	n/a
39	HCFC1	chr7:64254129-64255163	Hela-S3	cervix:	n/a	n/a
40	MXI1	chr7:64253622-64256454	SK-N-SH	brain:	n/a	n/a
41	REST	chr7:64254640-64255005	SK-N-SH	brain:	n/a	chr7:64254814-64254827
42	HEY1	chr7:64254472-64255054	HepG2	liver:	n/a	n/a
43	GABPA	chr7:64254234-64255483	MCF-7	breast:	n/a	n/a
44	CREB1	chr7:64254537-64255210	A549	lung:	n/a	chr7:64254773-64254786
45	POLR2A	chr7:64254463-64255297	K562	blood:	n/a	n/a
46	POLR2A	chr7:64254433-64255180	HUVEC	blood vessel:	n/a	n/a
47	TEAD4	chr7:64254614-64255054	K562	blood:	n/a	n/a
48	PBX3	chr7:64254423-64255020	A549	lung:	n/a	chr7:64254678-64254687
49	IRF1	chr7:64254451-64255029	K562	blood:	n/a	chr7:64254830-64254847 chr7:64254835-64254847
50	MYC	chr7:64254734-64255105	H1-hESC	embryonic stem cell:	n/a	chr7:64254789-64254799

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64254713-64254763	HepG2	liver:	n/a
2	chr7:64254733-64254783	SAEC	small airway:	n/a
3	chr7:64254730-64254780	HEK293	kidney:	embryo
4	chr7:64254733-64254783	HRPEpiC	eye:	n/a
5	chr7:64254733-64254783	AG04449	skin:	fetal
6	chr7:64254733-64254783	ECC-1	luminal epithelium:	n/a
7	chr7:64254730-64254780	LNCaP	prostate:	n/a
8	chr7:64254733-64254783	NHDF-neo	bronchial:	n/a
9	chr7:64254730-64254780	RPTEC	kidney:	n/a
10	chr7:64254730-64254780	BE2_C	brain:	n/a
11	chr7:64254713-64254763	HMEC	breast:	n/a
12	chr7:64254730-64254780	NH-A	brain:	n/a
13	chr7:64254733-64254783	NHBE	bronchial:	n/a
14	chr7:64254713-64254763	A549	lung:	n/a
15	chr7:64254733-64254783	IMR90	lung:	fetal
16	chr7:64254730-64254780	HL-60	blood:	n/a
17	chr7:64254730-64254780	ProgFib	skin:	n/a
18	chr7:64254733-64254783	PFSK-1	brain:	n/a
19	chr7:64254713-64254763	BJ	skin:	n/a
20	chr7:64254733-64254783	NB4	blood:	n/a
21	chr7:64254733-64254783	Caco-2	colon:	n/a
22	chr7:64254730-64254780	A549	lung:	n/a
23	chr7:64254733-64254783	HNPCEpiC	eye:	n/a
24	chr7:64254713-64254763	SKMC	muscle:	n/a
25	chr7:64254713-64254763	HRPEpiC	eye:	n/a
26	chr7:64254730-64254780	HCPEpiC	choroid plexus:	n/a
27	chr7:64254730-64254780	MCF10A-Er-Src	breast:	n/a
28	chr7:64254730-64254780	T-47D	breast:	n/a
29	chr7:64254730-64254780	GM12878	blood:	n/a
30	chr7:64254733-64254783	U87	brain:	n/a
31	chr7:64254733-64254783	HCF	heart:	n/a
32	chr7:64254733-64254783	PANC-1	pancreas:	n/a
33	chr7:64254730-64254780	Hepatocyte	liver:	n/a
34	chr7:64254730-64254780	SK-N-SH_RA	brain:	n/a
35	chr7:64254713-64254763	Jurkat	blood:	n/a
36	chr7:64254713-64254763	NHDF-neo	bronchial:	n/a
37	chr7:64254713-64254763	HEEpiC	esophagus:	n/a
38	chr7:64254730-64254780	SAEC	small airway:	n/a
39	chr7:64254730-64254780	HMEC	breast:	n/a
40	chr7:64254730-64254780	AG09319	gingival:	n/a
41	chr7:64254713-64254763	ECC-1	luminal epithelium:	n/a
42	chr7:64254733-64254783	PrEC	prostate:	n/a
43	chr7:64254733-64254783	RPTEC	kidney:	n/a
44	chr7:64254713-64254763	HAEpiC	amniotic membrane:	n/a
45	chr7:64254733-64254783	GM12892	blood:	n/a
46	chr7:64254713-64254763	Hela-S3	cervix:	n/a
47	chr7:64254713-64254763	HIPEpiC	eye:	n/a
48	chr7:64254713-64254763	SK-N-SH	brain:	n/a
49	chr7:64254733-64254783	GM12891	blood:	n/a
50	chr7:64254730-64254780	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64253690..64256534-chr7:64497237..64499995,2	K562	blood:
2	chr7:64254199..64254897-chr7:104654095..104654973,2	NB4	blood:

No data

Variant related genes	Relation type
ZNF138	TF binding region
ZNF138	CpG island
ENSG00000234585	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000239985	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1405004	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1405005	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1405007	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1525813	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1608898	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2863988	0.87[ASN][1000 genomes]
rs35926313	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718112	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62456789	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6954038	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6959035	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7811995	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv888273	chr7:63990100-64291622	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
10	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
13	esv3394685	chr7:64150166-64268675	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
16	nsv888281	chr7:64250409-64295884	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64253800-64255600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:64254000-64255200	Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr7:64254200-64255600	Active TSS	Brain Cingulate Gyrus	brain
4	chr7:64254200-64255800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:64254200-64255800	Active TSS	Fetal Muscle Trunk	muscle
6	chr7:64254200-64256200	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr7:64254400-64254800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr7:64254400-64254800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:64254400-64254800	Flanking Active TSS	Liver	Liver
10	chr7:64254400-64255000	Active TSS	Primary B cells from cord blood	blood
11	chr7:64254400-64255200	Active TSS	Primary monocytes fromperipheralblood	blood
12	chr7:64254400-64255200	Active TSS	Monocytes-CD14+_RO01746	blood
13	chr7:64254400-64255400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:64254400-64255400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:64254400-64255400	Active TSS	Aorta	Aorta
16	chr7:64254400-64255400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr7:64254400-64255400	Active TSS	Fetal Heart	heart
18	chr7:64254400-64255400	Active TSS	Fetal Lung	lung
19	chr7:64254400-64255400	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr7:64254400-64255400	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr7:64254400-64255400	Active TSS	Stomach Smooth Muscle	stomach
22	chr7:64254400-64255400	Active TSS	NH-A	brain
23	chr7:64254400-64255400	Active TSS	Osteobl	bone
24	chr7:64254400-64255600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:64254400-64255600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:64254400-64255600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr7:64254400-64255600	Active TSS	Primary T cells from cord blood	blood
28	chr7:64254400-64255600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:64254400-64255600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr7:64254400-64255600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:64254400-64255600	Active TSS	Brain Angular Gyrus	brain
32	chr7:64254400-64255600	Active TSS	Brain Hippocampus Middle	brain
33	chr7:64254400-64255600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:64254400-64255600	Active TSS	Brain Substantia Nigra	brain
35	chr7:64254400-64255600	Active TSS	Colonic Mucosa	Colon
36	chr7:64254400-64255600	Active TSS	Colon Smooth Muscle	Colon
37	chr7:64254400-64255600	Active TSS	Duodenum Mucosa	Duodenum
38	chr7:64254400-64255600	Active TSS	Fetal Brain Male	brain
39	chr7:64254400-64255600	Active TSS	Fetal Intestine Small	intestine
40	chr7:64254400-64255600	Active TSS	Ovary	ovary
41	chr7:64254400-64255800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:64254400-64255800	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr7:64254400-64255800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:64254400-64255800	Active TSS	Fetal Kidney	kidney
45	chr7:64254400-64255800	Active TSS	Right Atrium	heart
46	chr7:64254400-64255800	Active TSS	Right Ventricle	heart
47	chr7:64254400-64255800	Active TSS	HepG2	liver
48	chr7:64254400-64256000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:64254400-64256000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:64254400-64256000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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