Variant report

Variant	rs62466589
Chromosome Location	chr7:66459399-66459400
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr7:66459290-66462359	K562	blood:	n/a	chr7:66459441-66459456
2	CBX3	chr7:66459133-66460941	K562	blood:	n/a	n/a
3	CHD1	chr7:66459241-66461097	IMR90	lung:	n/a	n/a
4	HEY1	chr7:66459000-66460852	K562	blood:	n/a	n/a
5	POLR2A	chr7:66459008-66460895	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:66459102-66459414	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr7:66459010-66460855	GM12878	blood:	n/a	n/a
8	MXI1	chr7:66459266-66462591	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66385188..66388317-chr7:66459133..66463010,3	K562	blood:
2	chr7:66384595..66388317-chr7:66459135..66463010,5	K562	blood:
3	chr7:66458248..66462145-chr7:72299146..72302148,5	K562	blood:
4	chr7:66458802..66462145-chr7:72298376..72302148,5	K562	blood:
5	chr7:66309584..66311542-chr7:66458819..66461691,3	K562	blood:

No data

Variant related genes	Relation type
TYW1	TF binding region
SBDS	TF binding region
ENSG00000106609	Chromatin interaction
ENSG00000225648	Chromatin interaction
ENSG00000254184	Chromatin interaction
ENSG00000230583	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12531516	1.00[AMR][1000 genomes]
rs12532160	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12532307	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12532650	0.81[AMR][1000 genomes]
rs12533830	0.87[AMR][1000 genomes]
rs12534278	0.87[AMR][1000 genomes]
rs12534401	0.86[AMR][1000 genomes]
rs12535023	0.87[AMR][1000 genomes]
rs12537353	0.87[AMR][1000 genomes]
rs12537414	0.87[AMR][1000 genomes]
rs12537825	0.93[AMR][1000 genomes]
rs12537955	0.87[AMR][1000 genomes]
rs12539366	0.87[AMR][1000 genomes]
rs12539604	0.81[AMR][1000 genomes]
rs12540695	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2091314	0.87[AMR][1000 genomes]
rs2293351	0.87[AMR][1000 genomes]
rs34758320	0.87[AMR][1000 genomes]
rs35448884	0.87[AMR][1000 genomes]
rs3800819	0.87[AMR][1000 genomes]
rs4717323	0.81[AMR][1000 genomes]
rs4717329	0.87[AMR][1000 genomes]
rs4717335	0.81[AMR][1000 genomes]
rs4718426	0.87[AMR][1000 genomes]
rs4718434	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4718438	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4718450	0.87[AMR][1000 genomes]
rs62465700	0.81[AMR][1000 genomes]
rs62465701	0.81[AMR][1000 genomes]
rs62465705	0.81[AMR][1000 genomes]
rs62465734	0.87[AMR][1000 genomes]
rs62465736	0.87[AMR][1000 genomes]
rs62465738	0.87[AMR][1000 genomes]
rs62465739	0.87[AMR][1000 genomes]
rs62465740	0.87[AMR][1000 genomes]
rs62465741	0.87[AMR][1000 genomes]
rs62465742	0.87[AMR][1000 genomes]
rs62465743	0.87[AMR][1000 genomes]
rs62465744	0.87[AMR][1000 genomes]
rs62465745	0.87[AMR][1000 genomes]
rs62465747	0.87[AMR][1000 genomes]
rs62465748	0.87[AMR][1000 genomes]
rs62465750	0.87[AMR][1000 genomes]
rs62465752	0.87[AMR][1000 genomes]
rs62466575	0.87[AMR][1000 genomes]
rs62466582	1.00[AMR][1000 genomes]
rs62466584	1.00[AMR][1000 genomes]
rs62466586	1.00[AMR][1000 genomes]
rs62466588	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62466591	0.81[AMR][1000 genomes]
rs62466592	0.81[AMR][1000 genomes]
rs62466594	0.81[AMR][1000 genomes]
rs62466596	0.81[AMR][1000 genomes]
rs62466625	0.81[ASN][1000 genomes]
rs62466632	0.87[AMR][1000 genomes]
rs62466633	0.87[AMR][1000 genomes]
rs62466634	0.87[AMR][1000 genomes]
rs62466635	0.87[AMR][1000 genomes]
rs62466637	0.87[AMR][1000 genomes]
rs62466638	0.87[AMR][1000 genomes]
rs62466639	0.87[AMR][1000 genomes]
rs62466640	0.87[AMR][1000 genomes]
rs62466642	0.87[AMR][1000 genomes]
rs62466657	0.87[AMR][1000 genomes]
rs62466659	0.87[AMR][1000 genomes]
rs62468374	0.87[AMR][1000 genomes]
rs62468375	0.87[AMR][1000 genomes]
rs62468378	0.87[AMR][1000 genomes]
rs62468379	0.87[AMR][1000 genomes]
rs62468380	0.87[AMR][1000 genomes]
rs62468381	0.87[AMR][1000 genomes]
rs62468382	0.87[AMR][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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS 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	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66446600-66459400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:66449600-66459400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:66451600-66459400	Weak transcription	Esophagus	oesophagus
4	chr7:66452000-66459800	Weak transcription	Small Intestine	intestine
5	chr7:66453600-66459600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:66454200-66459400	Weak transcription	Gastric	stomach
7	chr7:66454200-66459600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:66454200-66460200	Weak transcription	Spleen	Spleen
9	chr7:66454400-66459400	Weak transcription	Lung	lung
10	chr7:66454400-66459600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr7:66455400-66459800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:66457000-66459600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:66457400-66459400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:66457400-66459600	Weak transcription	Ovary	ovary
15	chr7:66457400-66459800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:66457600-66459400	Weak transcription	Stomach Mucosa	stomach
17	chr7:66458400-66459400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr7:66458600-66459400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:66458600-66459400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:66458600-66459400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:66458600-66459400	Enhancers	Brain Cingulate Gyrus	brain
22	chr7:66458600-66459600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:66458600-66459600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:66458600-66459600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:66458600-66459800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:66458600-66462600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:66458600-66462800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:66458800-66459400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:66458800-66459400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr7:66458800-66459400	Weak transcription	Fetal Stomach	stomach
31	chr7:66458800-66459400	Weak transcription	Thymus	Thymus
32	chr7:66458800-66459600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:66458800-66459600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:66458800-66459600	Enhancers	Liver	Liver
35	chr7:66458800-66462400	Active TSS	Right Ventricle	heart
36	chr7:66458800-66462600	Active TSS	NHLF	lung
37	chr7:66458800-66463000	Active TSS	Hela-S3	cervix
38	chr7:66459000-66459400	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr7:66459000-66459400	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr7:66459000-66459400	Enhancers	Fetal Heart	heart
41	chr7:66459000-66459400	Transcr. at gene 5' and 3'	K562	blood
42	chr7:66459000-66459400	Transcr. at gene 5' and 3'	NHEK	skin
43	chr7:66459000-66459600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr7:66459000-66459600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr7:66459000-66459600	Enhancers	Primary B cells from peripheral blood	blood
46	chr7:66459000-66459600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:66459000-66459800	Enhancers	Fetal Brain Male	brain
48	chr7:66459000-66460000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr7:66459000-66460200	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr7:66459000-66462600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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