Variant report

Variant	rs1953230
Chromosome Location	chr14:65570037-65570038
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr14:65568850-65570074	K562	blood:	n/a	chr14:65569576-65569585 chr14:65569280-65569289
2	RCOR1	chr14:65569063-65570066	Hela-S3	cervix:	n/a	n/a
3	CUX1	chr14:65569919-65570392	K562	blood:	n/a	n/a
4	POLR2A	chr14:65568911-65570082	GM12891	blood:	n/a	n/a
5	BHLHE40	chr14:65568987-65570465	HepG2	liver:	n/a	chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989
6	BHLHE40	chr14:65568903-65570513	GM12878	blood:	n/a	chr14:65568921-65568937 chr14:65568966-65568982 chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989
7	MAX	chr14:65569462-65570106	K562	blood:	n/a	chr14:65569978-65569987
8	STAT5A	chr14:65569463-65570438	GM12878	blood:	n/a	n/a
9	MAX	chr14:65569011-65570076	H1-hESC	embryonic stem cell:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
10	ELF1	chr14:65568308-65570086	GM12878	blood:	n/a	chr14:65569543-65569555 chr14:65569370-65569383 chr14:65569630-65569642
11	MYC	chr14:65568491-65570495	NB4	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
12	MAX	chr14:65568798-65570483	ECC-1	luminal epithelium:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
13	EP300	chr14:65569018-65570453	K562	blood:	n/a	chr14:65569271-65569280 chr14:65569611-65569627
14	USF1	chr14:65568926-65570175	HCT-116	colon:	n/a	chr14:65568966-65568982 chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989 chr14:65569575-65569586 chr14:65569278-65569289
15	USF1	chr14:65568939-65570279	SK-N-SH	brain:	n/a	chr14:65568966-65568982 chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989 chr14:65569575-65569586 chr14:65569278-65569289
16	SP1	chr14:65569037-65570099	A549	lung:	n/a	n/a
17	POLR2A	chr14:65568794-65570114	MCF-7	breast:	n/a	n/a
18	MAZ	chr14:65568239-65570160	GM12878	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
19	USF1	chr14:65568954-65570101	A549	lung:	n/a	chr14:65568966-65568982 chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989 chr14:65569575-65569586 chr14:65569278-65569289
20	RELA	chr14:65569129-65570303	GM18951	blood:	n/a	n/a
21	RUNX3	chr14:65569994-65570411	GM12878	blood:	n/a	n/a
22	MYC	chr14:65569031-65570336	Hela-S3	cervix:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
23	MYC	chr14:65568737-65570437	K562	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
24	GATA3	chr14:65568909-65570289	A549	lung:	n/a	n/a
25	MAX	chr14:65568719-65570336	HepG2	liver:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
26	MAX	chr14:65568953-65570404	Hela-S3	cervix:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
27	MAX	chr14:65569455-65570487	SK-N-SH	brain:	n/a	chr14:65569978-65569987
28	SIN3AK20	chr14:65568893-65570132	SK-N-SH	brain:	n/a	n/a
29	MAX	chr14:65568832-65570474	HCT-116	colon:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
30	RUNX3	chr14:65568647-65570384	GM12878	blood:	n/a	chr14:65569508-65569523
31	GATA3	chr14:65568900-65570374	MCF-7	breast:	n/a	n/a
32	USF1	chr14:65569816-65570143	SK-N-SH_RA	brain:	n/a	chr14:65569972-65569993 chr14:65569977-65569986 chr14:65569976-65569989
33	USF1	chr14:65568954-65570338	A549	lung:	n/a	chr14:65568966-65568982 chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989 chr14:65569575-65569586 chr14:65569278-65569289
34	HEY1	chr14:65569467-65570064	HepG2	liver:	n/a	chr14:65569482-65569497
35	MAZ	chr14:65567949-65570642	IMR90	lung:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65568106-65568116 chr14:65569273-65569283 chr14:65569978-65569987
36	MAX	chr14:65568884-65570131	H1-hESC	embryonic stem cell:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
37	MAX	chr14:65569064-65570515	A549	lung:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
38	USF1	chr14:65568990-65570137	K562	blood:	n/a	chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989 chr14:65569575-65569586 chr14:65569278-65569289
39	MAX	chr14:65568946-65570565	HepG2	liver:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
40	BHLHE40	chr14:65568515-65570484	K562	blood:	n/a	chr14:65568921-65568937 chr14:65568966-65568982 chr14:65569972-65569993 chr14:65569277-65569290 chr14:65569977-65569986 chr14:65569976-65569989
41	POLR2A	chr14:65568796-65570044	K562	blood:	n/a	n/a
42	MYC	chr14:65569063-65570418	MCF10A-Er-Src	breast:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
43	MXI1	chr14:65568791-65570066	H1-hESC	embryonic stem cell:	n/a	chr14:65569576-65569585 chr14:65569280-65569289
44	SMARCB1	chr14:65568637-65570412	Hela-S3	cervix:	n/a	chr14:65569501-65569510 chr14:65569315-65569324 chr14:65569365-65569374
45	POLR2A	chr14:65569012-65570429	HEK293	kidney:	n/a	n/a
46	MYC	chr14:65568784-65570498	K562	blood:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
47	MAX	chr14:65568667-65570597	A549	lung:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
48	MAX	chr14:65569038-65570457	Hela-S3	cervix:	n/a	chr14:65569278-65569289 chr14:65569279-65569288 chr14:65569279-65569288 chr14:65569273-65569283 chr14:65569978-65569987
49	SMC3	chr14:65569092-65570407	Hela-S3	cervix:	n/a	chr14:65569797-65569807 chr14:65569490-65569500
50	POLR2A	chr14:65568823-65570083	GM18951	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65570008-65570058	AG04450	lung:	fetal
2	chr14:65570008-65570058	HIPEpiC	eye:	n/a
3	chr14:65570008-65570058	AoSMC	blood vessel:	n/a
4	chr14:65570008-65570058	GM12892	blood:	n/a
5	chr14:65570008-65570058	HepG2	liver:	n/a
6	chr14:65570008-65570058	HRPEpiC	eye:	n/a
7	chr14:65570008-65570058	H1-hESC	embryonic stem cell:	embryo
8	chr14:65570008-65570058	T-47D	breast:	n/a
9	chr14:65570008-65570058	AG09309	skin:	n/a
10	chr14:65570008-65570058	NHDF-neo	bronchial:	n/a
11	chr14:65570008-65570058	K562	blood:	n/a
12	chr14:65570008-65570058	HRCEpiC	kidney:	n/a
13	chr14:65570008-65570058	HCF	heart:	n/a
14	chr14:65570008-65570058	PANC-1	pancreas:	n/a
15	chr14:65570008-65570058	SAEC	small airway:	n/a
16	chr14:65570008-65570058	AG09319	gingival:	n/a
17	chr14:65570008-65570058	HEEpiC	esophagus:	n/a
18	chr14:65570008-65570058	HUVEC	blood vessel:	n/a
19	chr14:65570008-65570058	NT2-D1	testis:	n/a
20	chr14:65570008-65570058	HCPEpiC	choroid plexus:	n/a
21	chr14:65570008-65570058	RPTEC	kidney:	n/a
22	chr14:65570008-65570058	GM12878	blood:	n/a
23	chr14:65570008-65570058	Hepatocyte	liver:	n/a
24	chr14:65570008-65570058	HEK293	kidney:	embryo
25	chr14:65570008-65570058	HNPCEpiC	eye:	n/a
26	chr14:65570008-65570058	GM12891	blood:	n/a
27	chr14:65570008-65570058	Caco-2	colon:	n/a
28	chr14:65570008-65570058	NHBE	bronchial:	n/a
29	chr14:65570008-65570058	ovcar-3	ovarian:	n/a
30	chr14:65570008-65570058	NB4	blood:	n/a
31	chr14:65570008-65570058	HCT-116	colon:	n/a
32	chr14:65570008-65570058	NH-A	brain:	n/a
33	chr14:65570008-65570058	HAEpiC	amniotic membrane:	n/a
34	chr14:65570008-65570058	A549	lung:	n/a
35	chr14:65570008-65570058	BE2_C	brain:	n/a
36	chr14:65570008-65570058	BJ	skin:	n/a
37	chr14:65570008-65570058	PrEC	prostate:	n/a
38	chr14:65570008-65570058	HMEC	breast:	n/a
39	chr14:65570008-65570058	Hela-S3	cervix:	n/a
40	chr14:65570008-65570058	SKMC	muscle:	n/a
41	chr14:65570008-65570058	SK-N-SH_RA	brain:	n/a
42	chr14:65570008-65570058	MCF10A-Er-Src	breast:	n/a
43	chr14:65570008-65570058	HRE	kidney:	n/a
44	chr14:65570008-65570058	GM19239	blood:	n/a
45	chr14:65570008-65570058	AG04449	skin:	fetal
46	chr14:65570008-65570058	GM06990	blood:	n/a
47	chr14:65570008-65570058	IMR90	lung:	fetal
48	chr14:65570008-65570058	MCF-7	breast:	n/a
49	chr14:65570008-65570058	HPAEpiC	pulmonary alveolar:	n/a
50	chr14:65570008-65570058	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64970303..64972355-chr14:65568366..65570387,2	K562	blood:
2	chr14:65569137..65571197-chr14:65878383..65880649,2	MCF-7	breast:
3	chr14:65569733..65572500-chr14:65579946..65582085,4	MCF-7	breast:
4	chr14:65569605..65571519-chr14:65575666..65579395,3	MCF-7	breast:
5	chr14:65451451..65454703-chr14:65567810..65571977,3	MCF-7	breast:
6	chr14:65380733..65382559-chr14:65569608..65571121,2	K562	blood:

Variant related genes	Relation type
MAX	TF binding region
MAX	CpG island
ENSG00000258289	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000033170	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11626796	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12101257	1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[YRI][hapmap];0.85[ASN][1000 genomes]
rs1256415	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1256416	1.00[CEU][hapmap]
rs12588412	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12590701	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1262269	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12895232	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1953231	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1953233	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs1957947	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2225676	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs2277500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.82[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2781371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573590	0.88[ASN][1000 genomes]
rs7151350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152879	0.86[CHB][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap]
rs7153893	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs8011293	0.80[ASN][1000 genomes]
rs945013	1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs945014	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 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	chr14:65567200-65570200	Active TSS	Psoas Muscle	Psoas
2	chr14:65567400-65570200	Active TSS	Fetal Intestine Large	intestine
3	chr14:65567600-65570200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr14:65567600-65570200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:65567600-65570400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:65567600-65570600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:65567800-65570200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:65567800-65570200	Active TSS	Esophagus	oesophagus
9	chr14:65567800-65570200	Active TSS	Left Ventricle	heart
10	chr14:65567800-65570400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:65567800-65570400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:65568000-65570200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr14:65568000-65570200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr14:65568000-65570200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:65568000-65570200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:65568000-65570200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:65568000-65570200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:65568000-65570200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:65568000-65570200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:65568000-65570200	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr14:65568000-65570200	Active TSS	Aorta	Aorta
22	chr14:65568000-65570200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr14:65568000-65570200	Active TSS	Fetal Intestine Small	intestine
24	chr14:65568000-65570200	Active TSS	Fetal Muscle Trunk	muscle
25	chr14:65568000-65570200	Active TSS	Right Ventricle	heart
26	chr14:65568000-65570200	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr14:65568000-65570200	Active TSS	GM12878-XiMat	blood
28	chr14:65568000-65570200	Active TSS	HSMM	muscle
29	chr14:65568000-65570200	Active TSS	NHDF-Ad	bronchial
30	chr14:65568000-65570400	Active TSS	Right Atrium	heart
31	chr14:65568000-65570600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr14:65568000-65570600	Active TSS	NHLF	lung
33	chr14:65568200-65570200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr14:65568200-65570200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr14:65568200-65570200	Active TSS	Brain Angular Gyrus	brain
36	chr14:65568200-65570200	Active TSS	Brain Substantia Nigra	brain
37	chr14:65568200-65570200	Active TSS	Ovary	ovary
38	chr14:65568200-65570200	Active TSS	A549	lung
39	chr14:65568200-65570400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:65568200-65570400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:65568200-65570400	Active TSS	Rectal Smooth Muscle	rectum
42	chr14:65568400-65570200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:65568400-65570200	Active TSS	Pancreas	Pancrea
44	chr14:65568800-65570200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
45	chr14:65569000-65570200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr14:65569000-65570200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:65569000-65570200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:65569000-65570200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:65569400-65570200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:65569400-65570600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell

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