Variant report

Variant	rs229582
Chromosome Location	chr14:65232616-65232617
allele	G/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:7)
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	POLR2A	chr14:65232405-65232759	ECC-1	luminal epithelium:	n/a	n/a
2	SUZ12	chr14:65232519-65232919	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:65232595-65232858	MCF-7	breast:	n/a	n/a
4	BCL3	chr14:65232596-65232902	GM12878	blood:	n/a	n/a
5	CTCF	chr14:65232493-65232926	GM19239	blood:	n/a	n/a
6	POLR2A	chr14:65232528-65232836	MCF-7	breast:	n/a	n/a
7	MYC	chr14:65232471-65232799	MCF-7	breast:	n/a	n/a
8	CTCF	chr14:65232565-65232631	GM12892	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65231094..65233914-chr14:65437401..65439254,2	MCF-7	breast:
2	chr14:65231019..65234002-chr14:65270043..65272180,2	K562	blood:
3	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
4	chr14:65231204..65233670-chr14:65243872..65245658,2	MCF-7	breast:
5	chr14:64969741..64971347-chr14:65231667..65233544,2	MCF-7	breast:
6	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
7	chr14:65225623..65228058-chr14:65230939..65232636,2	K562	blood:

No data

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000089775	Chromatin interaction
ENSG00000070182	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000126822	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10148978	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12883860	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884320	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12885036	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889768	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892540	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs189086	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs229598	0.87[ASN][1000 genomes]
rs229601	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs229602	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34132719	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34494653	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34935243	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35621884	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35752616	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv902025	chr14:65229364-65246181	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv519823	chr14:65230059-65241933	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3356966	chr14:65230599-65234897	Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65220800-65233000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:65227600-65232800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
4	chr14:65228800-65234400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:65229200-65233600	Enhancers	HMEC	breast
6	chr14:65229600-65234000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:65229600-65234400	Weak transcription	Fetal Brain Female	brain
8	chr14:65229600-65246200	Weak transcription	Psoas Muscle	Psoas
9	chr14:65229800-65233200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:65229800-65233600	Weak transcription	Left Ventricle	heart
11	chr14:65230000-65233000	Enhancers	Hela-S3	cervix
12	chr14:65230600-65237800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:65231400-65233200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:65231600-65233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:65231600-65233000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr14:65231600-65233200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:65231600-65233200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr14:65231600-65233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:65231600-65233600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:65231600-65233600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:65231600-65233600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:65231600-65234000	Weak transcription	Spleen	Spleen
23	chr14:65231600-65234000	Enhancers	A549	lung
24	chr14:65231600-65235600	Weak transcription	Brain Germinal Matrix	brain
25	chr14:65231600-65235800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:65231600-65237000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:65231600-65242400	Strong transcription	Right Ventricle	heart
28	chr14:65231600-65244000	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:65231600-65244400	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:65231600-65250600	Weak transcription	Brain Angular Gyrus	brain
31	chr14:65231600-65250600	Weak transcription	Brain Anterior Caudate	brain
32	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:65231800-65232800	Weak transcription	Fetal Brain Male	brain
34	chr14:65231800-65233200	Weak transcription	Esophagus	oesophagus
35	chr14:65232000-65233200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr14:65232000-65246000	Weak transcription	Pancreas	Pancrea
37	chr14:65232200-65232800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr14:65232200-65233200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:65232200-65233600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:65232200-65235400	Strong transcription	Fetal Muscle Leg	muscle
41	chr14:65232200-65237200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:65232200-65239400	Weak transcription	Brain Hippocampus Middle	brain
43	chr14:65232200-65244600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:65232200-65274200	Weak transcription	Gastric	stomach
45	chr14:65232400-65232800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:65232400-65233000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr14:65232400-65233400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:65232400-65233600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:65232400-65233600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr14:65232400-65237800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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