Variant report

Variant	rs3813423
Chromosome Location	chr14:65347475-65347476
allele	A/C
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	HA-E2F1	chr14:65346862-65347586	MCF-7	breast:	n/a	chr14:65346946-65346958 chr14:65347034-65347041 chr14:65346872-65346881 chr14:65347034-65347041 chr14:65347338-65347347 chr14:65347033-65347045 chr14:65347171-65347181 chr14:65347034-65347041 chr14:65347237-65347246
2	TAF1	chr14:65347157-65347476	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:65346319-65347765	H1-neurons	neurons:	n/a	n/a
4	REST	chr14:65346792-65347687	H1-neurons	neurons:	n/a	chr14:65346883-65346896 chr14:65347260-65347273 chr14:65347170-65347180 chr14:65346880-65346893
5	MAX	chr14:65347082-65347589	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:65347178-65347515	K562	blood:	n/a	n/a
7	E2F4	chr14:65346618-65347532	K562	blood:	n/a	chr14:65346946-65346958 chr14:65347034-65347041 chr14:65347033-65347041 chr14:65346872-65346881 chr14:65347034-65347041 chr14:65347338-65347347 chr14:65347033-65347045 chr14:65346769-65346779 chr14:65347171-65347181 chr14:65347034-65347041 chr14:65347237-65347246
8	HEY1	chr14:65347147-65347477	K562	blood:	n/a	n/a
9	RCOR1	chr14:65345983-65347702	K562	blood:	n/a	n/a
10	TEAD4	chr14:65347196-65347538	K562	blood:	n/a	n/a
11	MAX	chr14:65346509-65347720	MCF-7	breast:	n/a	n/a
12	GATA1	chr14:65346105-65348005	PBDE	blood:	n/a	chr14:65346999-65347007 chr14:65347950-65347960
13	POLR2A	chr14:65343221-65348246	PBDE	blood:	n/a	n/a
14	POLR2A	chr14:65346950-65347503	SK-N-MC	brain:	n/a	n/a
15	UBTF	chr14:65347098-65347487	K562	blood:	n/a	n/a
16	HMGN3	chr14:65345858-65347744	K562	blood:	n/a	n/a
17	GTF2F1	chr14:65347241-65347484	K562	blood:	n/a	n/a
18	MAZ	chr14:65345829-65347665	K562	blood:	n/a	n/a
19	TAF1	chr14:65347101-65347617	H1-hESC	embryonic stem cell:	n/a	n/a
20	GABPA	chr14:65347178-65347504	K562	blood:	n/a	n/a
21	POLR2A	chr14:65347242-65347484	MCF-7	breast:	n/a	n/a
22	HDAC2	chr14:65346460-65347671	MCF-7	breast:	n/a	chr14:65347601-65347609
23	MAX	chr14:65347212-65347479	K562	blood:	n/a	n/a
24	POLR2A	chr14:65347022-65347628	H1-hESC	embryonic stem cell:	n/a	n/a
25	GABPA	chr14:65347166-65347476	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIN3A	chr14:65346663-65347730	H1-hESC	embryonic stem cell:	n/a	chr14:65346763-65346776 chr14:65346880-65346893
27	POLR2A	chr14:65346480-65347751	H1-neurons	neurons:	n/a	n/a
28	EP300	chr14:65347160-65347559	K562	blood:	n/a	n/a
29	STAT5A	chr14:65347085-65347525	K562	blood:	n/a	n/a
30	YY1	chr14:65347070-65347509	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:65347260-65347491	MCF-7	breast:	n/a	chr14:65347416-65347434 chr14:65347418-65347431 chr14:65347305-65347312
32	POLR2A	chr14:65346452-65347600	K562	blood:	n/a	n/a
33	TEAD4	chr14:65347150-65347545	K562	blood:	n/a	n/a
34	POLR2A	chr14:65346374-65347512	K562	blood:	n/a	n/a
35	E2F4	chr14:65346881-65347760	MCF10A-Er-Src	breast:	n/a	chr14:65346946-65346958 chr14:65347034-65347041 chr14:65347033-65347041 chr14:65347034-65347041 chr14:65347338-65347347 chr14:65347033-65347045 chr14:65347171-65347181 chr14:65347034-65347041 chr14:65347237-65347246
36	GABPA	chr14:65347132-65347569	K562	blood:	n/a	n/a
37	POLR2A	chr14:65345882-65347571	K562	blood:	n/a	n/a
38	MYC	chr14:65346354-65347660	K562	blood:	n/a	n/a
39	ZNF384	chr14:65347290-65347479	K562	blood:	n/a	n/a
40	SP1	chr14:65346993-65347495	H1-hESC	embryonic stem cell:	n/a	chr14:65347260-65347269 chr14:65347259-65347271 chr14:65347260-65347274 chr14:65347237-65347246 chr14:65347236-65347247 chr14:65347236-65347248 chr14:65347259-65347271 chr14:65347261-65347270 chr14:65347260-65347270 chr14:65347259-65347270 chr14:65347226-65347240 chr14:65347260-65347270
41	KAP1	chr14:65347221-65347853	HEK293	kidney:	n/a	n/a
42	POLR2A	chr14:65347089-65347490	K562	blood:	n/a	n/a
43	EGR1	chr14:65346349-65347596	HCT-116	colon:	n/a	chr14:65346783-65346798 chr14:65347104-65347114 chr14:65346784-65346797 chr14:65347105-65347115 chr14:65347232-65347245 chr14:65346785-65346796 chr14:65346723-65346737 chr14:65346872-65346882
44	POLR2A	chr14:65347142-65347511	HCT-116	colon:	n/a	n/a
45	TAL1	chr14:65347131-65347552	K562	blood:	n/a	n/a
46	TAF7	chr14:65347098-65347482	H1-hESC	embryonic stem cell:	n/a	n/a
47	TCF12	chr14:65347124-65347618	ECC-1	luminal epithelium:	n/a	chr14:65347488-65347498
48	POLR2A	chr14:65346424-65347536	K562	blood:	n/a	n/a
49	RCOR1	chr14:65347461-65347483	K562	blood:	n/a	n/a
50	POLR2A	chr14:65347090-65347484	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65346776..65348701-chr14:65353935..65356642,2	K562	blood:
2	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
3	chr14:65347011..65349276-chr14:65350145..65352997,3	MCF-7	breast:
4	chr14:64971440..64973382-chr14:65345698..65348415,2	MCF-7	breast:
5	chr14:65346800..65348898-chr14:65351625..65354536,2	K562	blood:

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000126804	Chromatin interaction
ENSG00000089775	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10144554	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10873177	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11158564	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11628910	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1467569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1467570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1467571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467573	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570296	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17102320	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1951490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951492	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951495	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1957427	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1957428	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1957429	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1957431	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1957432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1998333	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28370916	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2884308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3813421	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3813422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899150	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902325	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4902327	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59000318	0.80[ASN][1000 genomes]
rs59876171	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60979440	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6573580	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573581	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7141985	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7143541	0.80[ASN][1000 genomes]
rs7143661	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7144718	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7149922	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs763346	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8008745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8009510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8009996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8013772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9783609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3326676	chr14:65345624-65348172	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65345000-65348000	Active TSS	Brain Anterior Caudate	brain
2	chr14:65345200-65348200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:65345400-65347800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:65345400-65347800	Active TSS	Right Atrium	heart
5	chr14:65345600-65347600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr14:65345600-65347800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:65345600-65347800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:65345600-65347800	Active TSS	Brain Hippocampus Middle	brain
9	chr14:65345600-65347800	Active TSS	Psoas Muscle	Psoas
10	chr14:65345600-65348000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr14:65345800-65347600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr14:65345800-65347600	Active TSS	Brain Substantia Nigra	brain
13	chr14:65345800-65347800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr14:65345800-65347800	Active TSS	Right Ventricle	heart
15	chr14:65345800-65348000	Active TSS	Brain Angular Gyrus	brain
16	chr14:65345800-65348200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr14:65346000-65347600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr14:65346000-65347600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:65346000-65347600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:65346000-65347600	Active TSS	K562	blood
21	chr14:65346000-65347800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:65346000-65347800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr14:65346000-65347800	Active TSS	Aorta	Aorta
24	chr14:65346000-65348000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:65346000-65348000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:65346000-65348000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr14:65346000-65348000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:65346200-65347600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr14:65346200-65347600	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr14:65346200-65347600	Active TSS	Ovary	ovary
31	chr14:65346200-65347600	Active TSS	A549	lung
32	chr14:65346200-65347800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr14:65346200-65347800	Active TSS	Brain Cingulate Gyrus	brain
34	chr14:65346400-65347600	Active TSS	Fetal Brain Female	brain
35	chr14:65346400-65347600	Bivalent/Poised TSS	Hela-S3	cervix
36	chr14:65346400-65347800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:65346400-65347800	Flanking Bivalent TSS/Enh	Dnd41	blood
38	chr14:65346600-65347600	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr14:65346600-65347600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr14:65346600-65347800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:65346600-65347800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
42	chr14:65346800-65347600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:65346800-65347600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:65346800-65347600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
45	chr14:65347000-65347600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:65347000-65347600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:65347000-65347600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
48	chr14:65347000-65347600	Flanking Active TSS	Liver	Liver
49	chr14:65347000-65347600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr14:65347000-65347600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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