Variant report

Variant	rs1467570
Chromosome Location	chr14:65347858-65347859
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	GATA1	chr14:65346105-65348005	PBDE	blood:	n/a	chr14:65346999-65347007 chr14:65347950-65347960
2	POLR2A	chr14:65343221-65348246	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65346776..65348701-chr14:65353935..65356642,2	K562	blood:
2	chr14:65344538..65346383-chr14:65347730..65349628,3	K562	blood:
3	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
4	chr14:65347011..65349276-chr14:65350145..65352997,3	MCF-7	breast:
5	chr14:64971440..64973382-chr14:65345698..65348415,2	MCF-7	breast:
6	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	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10873177	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11158564	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628910	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1467569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1467573	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1570296	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17102320	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1951490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1951491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1951492	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1951495	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1957427	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[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];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957431	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1998333	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370916	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2884308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813421	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3813422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3813423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4899150	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902325	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902327	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59000318	0.81[ASN][1000 genomes]
rs59876171	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60979440	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573580	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573581	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141985	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7143541	0.81[ASN][1000 genomes]
rs7143661	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7144718	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7149922	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs763346	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8008745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013772	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:48 , 50 per page) page: 1

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	chr14:65345600-65348000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr14:65345800-65348000	Active TSS	Brain Angular Gyrus	brain
5	chr14:65345800-65348200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr14:65346000-65348000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:65346000-65348000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:65346000-65348000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr14:65346000-65348000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:65347000-65348200	Bivalent/Poised TSS	NH-A	brain
11	chr14:65347200-65348000	Bivalent Enhancer	Fetal Lung	lung
12	chr14:65347400-65348000	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:65347600-65348000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
14	chr14:65347600-65348000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr14:65347600-65348000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr14:65347600-65348000	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
17	chr14:65347600-65348000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:65347600-65348000	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr14:65347600-65348000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr14:65347600-65348200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr14:65347600-65348200	Bivalent Enhancer	Fetal Heart	heart
22	chr14:65347600-65348200	Flanking Active TSS	K562	blood
23	chr14:65347800-65348000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
24	chr14:65347800-65348000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
25	chr14:65347800-65348000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:65347800-65348000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr14:65347800-65348000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr14:65347800-65348000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:65347800-65348000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
30	chr14:65347800-65348000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
31	chr14:65347800-65348000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr14:65347800-65348000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
33	chr14:65347800-65348000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:65347800-65348000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
35	chr14:65347800-65348000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr14:65347800-65348000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:65347800-65348000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
38	chr14:65347800-65348000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:65347800-65348000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
40	chr14:65347800-65348000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:65347800-65348000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:65347800-65348000	Bivalent Enhancer	Fetal Intestine Large	intestine
43	chr14:65347800-65348000	Active TSS	Gastric	stomach
44	chr14:65347800-65348000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
45	chr14:65347800-65348000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr14:65347800-65348000	Bivalent Enhancer	Thymus	Thymus
47	chr14:65347800-65348000	Bivalent Enhancer	Dnd41	blood
48	chr14:65347800-65348200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--

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