Variant report

Variant	rs34935243
Chromosome Location	chr14:65232236-65232237
allele	A/G
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	RAD21	chr14:65226715-65232277	SK-N-SH	brain:	n/a	chr14:65226775-65226787 chr14:65228771-65228784 chr14:65231656-65231675 chr14:65228769-65228783 chr14:65229999-65230012 chr14:65230645-65230664 chr14:65230007-65230020 chr14:65231449-65231463 chr14:65227072-65227091 chr14:65231658-65231670 chr14:65228012-65228025 chr14:65229182-65229195
2	CTCF	chr14:65232100-65232250	GM12866	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65231094..65233914-chr14:65437401..65439254,2	MCF-7	breast:
2	chr14:65195829..65198759-chr14:65228499..65232345,3	MCF-7	breast:
3	chr14:65231019..65234002-chr14:65270043..65272180,2	K562	blood:
4	chr14:65138142..65139183-chr14:65231179..65232405,5	MCF-7	breast:
5	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
6	chr14:65231204..65233670-chr14:65243872..65245658,2	MCF-7	breast:
7	chr14:64969741..64971347-chr14:65231667..65233544,2	MCF-7	breast:
8	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
9	chr14:65225623..65228058-chr14:65230939..65232636,2	K562	blood:

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000070182	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000126822	Chromatin interaction
ENSG00000139998	Chromatin interaction
ENSG00000089775	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12883860	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884320	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12885036	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889768	0.93[AFR][1000 genomes];1.00[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]
rs229582	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229598	0.87[ASN][1000 genomes]
rs229601	1.00[ASN][1000 genomes]
rs229602	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34132719	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34494653	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35621884	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35752616	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: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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65215200-65232400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:65220800-65233000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:65221400-65232600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:65221600-65232400	Enhancers	Fetal Intestine Large	intestine
5	chr14:65227600-65232800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:65228400-65265000	Weak transcription	Aorta	Aorta
7	chr14:65228800-65234400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:65229200-65233600	Enhancers	HMEC	breast
9	chr14:65229600-65234000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:65229600-65234400	Weak transcription	Fetal Brain Female	brain
11	chr14:65229600-65246200	Weak transcription	Psoas Muscle	Psoas
12	chr14:65229800-65232600	Weak transcription	K562	blood
13	chr14:65229800-65233200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:65229800-65233600	Weak transcription	Left Ventricle	heart
15	chr14:65230000-65233000	Enhancers	Hela-S3	cervix
16	chr14:65230600-65237800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:65231000-65232400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr14:65231000-65232600	Weak transcription	Fetal Kidney	kidney
19	chr14:65231400-65233200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:65231600-65232400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:65231600-65232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:65231600-65232400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:65231600-65232400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:65231600-65232600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr14:65231600-65232600	Weak transcription	Fetal Heart	heart
26	chr14:65231600-65232600	Weak transcription	NHEK	skin
27	chr14:65231600-65233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:65231600-65233000	Enhancers	Primary T cells fromperipheralblood	blood
29	chr14:65231600-65233200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:65231600-65233200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:65231600-65233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:65231600-65233600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:65231600-65233600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:65231600-65233600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:65231600-65234000	Weak transcription	Spleen	Spleen
36	chr14:65231600-65234000	Enhancers	A549	lung
37	chr14:65231600-65235600	Weak transcription	Brain Germinal Matrix	brain
38	chr14:65231600-65235800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:65231600-65237000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:65231600-65242400	Strong transcription	Right Ventricle	heart
41	chr14:65231600-65244000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:65231600-65244400	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:65231600-65250600	Weak transcription	Brain Angular Gyrus	brain
44	chr14:65231600-65250600	Weak transcription	Brain Anterior Caudate	brain
45	chr14:65231600-65261400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:65231800-65232600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:65231800-65232600	Enhancers	Colonic Mucosa	Colon
48	chr14:65231800-65232800	Weak transcription	Fetal Brain Male	brain
49	chr14:65231800-65233200	Weak transcription	Esophagus	oesophagus
50	chr14:65232000-65233200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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