Variant report

Variant	rs1640817
Chromosome Location	chr1:223315784-223315785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr1:223315756-223317534	K562	blood:	n/a	chr1:223316630-223316640
2	POLR2A	chr1:223315622-223317565	K562	blood:	n/a	n/a
3	ZNF263	chr1:223315505-223317578	HEK293-T-REx	kidney:	n/a	chr1:223316428-223316437 chr1:223316429-223316450
4	E2F6	chr1:223315633-223317591	K562	blood:	n/a	n/a
5	CTCF	chr1:223315525-223317318	A549	lung:	n/a	chr1:223316368-223316384 chr1:223315736-223315743 chr1:223316172-223316185 chr1:223316457-223316470
6	USF2	chr1:223315713-223315951	K562	blood:	n/a	n/a
7	MAX	chr1:223315726-223317814	K562	blood:	n/a	chr1:223316630-223316640
8	EBF1	chr1:223315091-223315868	GM12878	blood:	n/a	n/a
9	CTCF	chr1:223315680-223315830	SK-N-SH_RA	brain:	n/a	chr1:223315736-223315743
10	CTCF	chr1:223315777-223316984	SK-N-SH	brain:	n/a	chr1:223316368-223316384 chr1:223316172-223316185 chr1:223316457-223316470
11	POLR2A	chr1:223315298-223317592	GM12878	blood:	n/a	n/a
12	KAP1	chr1:223315634-223317095	HEK293	kidney:	n/a	n/a
13	MAX	chr1:223315766-223316990	K562	blood:	n/a	chr1:223316630-223316640
14	ZNF263	chr1:223315509-223316801	K562	blood:	n/a	chr1:223316428-223316437 chr1:223316429-223316450

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:223315766-223315816	CMK	blood:	n/a
2	chr1:223315766-223315816	NHBE	bronchial:	n/a
3	chr1:223315766-223315816	ProgFib	skin:	n/a
4	chr1:223315766-223315816	NT2-D1	testis:	n/a
5	chr1:223315766-223315816	SKMC	muscle:	n/a
6	chr1:223315766-223315816	GM06990	blood:	n/a
7	chr1:223315766-223315816	NHDF-neo	bronchial:	n/a
8	chr1:223315766-223315816	T-47D	breast:	n/a
9	chr1:223315766-223315816	A549	lung:	n/a
10	chr1:223315766-223315816	AG09309	skin:	n/a
11	chr1:223315766-223315816	AG09319	gingival:	n/a
12	chr1:223315766-223315816	H1-hESC	embryonic stem cell:	embryo
13	chr1:223315766-223315816	Hepatocyte	liver:	n/a
14	chr1:223315766-223315816	AG04450	lung:	fetal
15	chr1:223315766-223315816	SK-N-MC	brain:	n/a
16	chr1:223315766-223315816	HCM	heart:	n/a
17	chr1:223315766-223315816	BE2_C	brain:	n/a
18	chr1:223315766-223315816	GM12892	blood:	n/a
19	chr1:223315766-223315816	HRPEpiC	eye:	n/a
20	chr1:223315766-223315816	HCPEpiC	choroid plexus:	n/a
21	chr1:223315766-223315816	SK-N-SH	brain:	n/a
22	chr1:223315766-223315816	MCF-7	breast:	n/a
23	chr1:223315766-223315816	HEK293	kidney:	embryo
24	chr1:223315766-223315816	AG04449	skin:	fetal
25	chr1:223315766-223315816	PANC-1	pancreas:	n/a
26	chr1:223315766-223315816	U87	brain:	n/a
27	chr1:223315766-223315816	GM19239	blood:	n/a
28	chr1:223315766-223315816	HAEpiC	amniotic membrane:	n/a
29	chr1:223315766-223315816	RPTEC	kidney:	n/a
30	chr1:223315766-223315816	AG10803	skin:	n/a
31	chr1:223315766-223315816	HCF	heart:	n/a
32	chr1:223315766-223315816	ovcar-3	ovarian:	n/a
33	chr1:223315766-223315816	HNPCEpiC	eye:	n/a
34	chr1:223315766-223315816	Hela-S3	cervix:	n/a
35	chr1:223315766-223315816	NB4	blood:	n/a
36	chr1:223315766-223315816	HRE	kidney:	n/a
37	chr1:223315766-223315816	Caco-2	colon:	n/a
38	chr1:223315766-223315816	HRCEpiC	kidney:	n/a
39	chr1:223315766-223315816	Jurkat	blood:	n/a
40	chr1:223315766-223315816	MCF10A-Er-Src	breast:	n/a
41	chr1:223315766-223315816	SAEC	small airway:	n/a
42	chr1:223315766-223315816	GM12891	blood:	n/a
43	chr1:223315766-223315816	HMEC	breast:	n/a
44	chr1:223315766-223315816	K562	blood:	n/a
45	chr1:223315766-223315816	HL-60	blood:	n/a
46	chr1:223315766-223315816	BJ	skin:	n/a
47	chr1:223315766-223315816	GM12878	blood:	n/a
48	chr1:223315766-223315816	AoSMC	blood vessel:	n/a
49	chr1:223315766-223315816	HCT-116	colon:	n/a
50	chr1:223315766-223315816	IMR90	lung:	fetal

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223305699..223307476-chr1:223314416..223316383,2	K562	blood:
2	chr1:223308071..223311101-chr1:223314181..223317156,4	K562	blood:
3	chr1:223309835..223312758-chr1:223314072..223315827,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236846	TF binding region
ENSG00000236846	CpG island
ENSG00000187554	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10489492	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11486079	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11488549	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1361642	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418145	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1418146	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1612398	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1640803	0.91[ASN][1000 genomes]
rs1640809	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1640811	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1640812	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1640813	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1640814	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1640815	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1640816	0.95[ASN][1000 genomes]
rs1640818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640819	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640820	0.98[ASN][1000 genomes]
rs1640823	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17163741	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17163742	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17163743	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1773738	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773744	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773749	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1773753	0.91[ASN][1000 genomes]
rs1773754	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1773761	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773762	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773763	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773766	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773767	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773768	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935305	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2241095	0.84[ASN][1000 genomes]
rs2256707	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302597	0.98[ASN][1000 genomes]
rs2353474	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2430400	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2487834	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2487836	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34136554	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34552707	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34970812	0.89[EUR][1000 genomes]
rs35349967	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35579200	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35705006	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35802580	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35953839	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4393150	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs45501199	0.84[ASN][1000 genomes]
rs5744135	0.84[ASN][1000 genomes]
rs5744138	0.84[ASN][1000 genomes]
rs5744139	0.84[ASN][1000 genomes]
rs5744140	0.84[ASN][1000 genomes]
rs5744143	0.84[ASN][1000 genomes]
rs5744145	0.84[ASN][1000 genomes]
rs5744147	0.84[ASN][1000 genomes]
rs5744149	0.84[ASN][1000 genomes]
rs66553000	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66662427	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66757010	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66832195	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66938974	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67573944	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67623966	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67639934	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67833495	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67883821	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs723961	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72743851	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72743852	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73118159	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73118168	0.91[ASN][1000 genomes]
rs759303	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs763389	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs988241	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs988242	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs988243	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs988244	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs988779	0.93[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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223307600-223315800	Weak transcription	Right Atrium	heart
2	chr1:223309200-223315800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:223309400-223316000	Weak transcription	NHLF	lung
4	chr1:223310200-223316000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:223311200-223315800	Weak transcription	Hela-S3	cervix
6	chr1:223311200-223316000	Weak transcription	Liver	Liver
7	chr1:223311400-223316000	Weak transcription	Fetal Intestine Large	intestine
8	chr1:223311600-223316000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:223311600-223316200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:223313600-223315800	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:223313800-223315800	Enhancers	Placenta	Placenta
12	chr1:223314000-223315800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr1:223314000-223315800	Enhancers	Esophagus	oesophagus
14	chr1:223314000-223315800	Enhancers	Pancreas	Pancrea
15	chr1:223314000-223316000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:223314200-223316000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:223314200-223316000	Enhancers	Right Ventricle	heart
18	chr1:223314200-223316000	Enhancers	HSMMtube	muscle
19	chr1:223314400-223315800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:223314400-223316000	Weak transcription	Psoas Muscle	Psoas
21	chr1:223314600-223315800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:223314800-223315800	Weak transcription	Fetal Heart	heart
23	chr1:223314800-223315800	Weak transcription	Fetal Lung	lung
24	chr1:223314800-223315800	Weak transcription	Left Ventricle	heart
25	chr1:223314800-223315800	Weak transcription	HMEC	breast
26	chr1:223314800-223316000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:223314800-223316000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:223314800-223316000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr1:223314800-223316000	Weak transcription	NH-A	brain
30	chr1:223314800-223316000	Enhancers	NHEK	skin
31	chr1:223314800-223316200	Enhancers	NHDF-Ad	bronchial
32	chr1:223314800-223316800	Active TSS	Brain Hippocampus Middle	brain
33	chr1:223315000-223316000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:223315200-223315800	Enhancers	Ovary	ovary
35	chr1:223315200-223315800	Enhancers	Stomach Mucosa	stomach
36	chr1:223315200-223316000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:223315200-223316200	Enhancers	Spleen	Spleen
38	chr1:223315200-223317400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr1:223315200-223317600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr1:223315200-223318800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:223315400-223315800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr1:223315400-223315800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:223315400-223315800	Active TSS	Primary B cells from cord blood	blood
44	chr1:223315400-223315800	Active TSS	Primary hematopoietic stem cells	blood
45	chr1:223315400-223315800	Enhancers	Colon Smooth Muscle	Colon
46	chr1:223315400-223315800	Enhancers	K562	blood
47	chr1:223315400-223316000	Enhancers	Fetal Thymus	thymus
48	chr1:223315400-223316000	Bivalent Enhancer	GM12878-XiMat	blood
49	chr1:223315400-223316200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:223315400-223316200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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