Variant report

Variant	rs229571
Chromosome Location	chr14:65227770-65227771
allele	C/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	EP300	chr14:65226747-65231955	SK-N-SH	brain:	n/a	chr14:65229497-65229513 chr14:65231359-65231366 chr14:65228770-65228786 chr14:65231099-65231108
2	POLR2A	chr14:65223340-65227915	A549	lung:	n/a	n/a
3	CTCF	chr14:65227640-65227790	GM12864	blood:	n/a	n/a
4	CTCF	chr14:65227720-65227870	GM12865	blood:	n/a	n/a
5	CTCF	chr14:65227620-65227770	GM12873	blood:	n/a	n/a
6	POLR2A	chr14:65227606-65227899	K562	blood:	n/a	n/a
7	POLR2A	chr14:65227527-65230282	ECC-1	luminal epithelium:	n/a	n/a
8	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
9	POLR2A	chr14:65227054-65231027	K562	blood:	n/a	n/a
10	POLR2A	chr14:65225694-65230256	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:65211034..65213398-chr14:65224947..65227987,3	MCF-7	breast:
2	chr14:65208033..65210912-chr14:65226246..65228368,2	K562	blood:
3	chr14:65222955..65224467-chr14:65226753..65229376,2	K562	blood:
4	chr14:65192290..65195649-chr14:65222693..65231374,9	MCF-7	breast:
5	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
6	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
7	chr14:65225623..65228058-chr14:65230939..65232636,2	K562	blood:
8	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
9	chr14:65219332..65221350-chr14:65225849..65228107,2	K562	blood:
10	chr14:65226702..65228507-chr14:65232597..65235151,2	MCF-7	breast:
11	chr14:64969302..64971888-chr14:65227488..65230502,4	MCF-7	breast:

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1109606	0.97[ASN][1000 genomes]
rs1109607	0.97[ASN][1000 genomes]
rs1109608	0.97[ASN][1000 genomes]
rs172966	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs229572	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs749808	0.97[ASN][1000 genomes]
rs873642	0.97[ASN][1000 genomes]
rs94788	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs94789	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65211200-65228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:65215200-65232400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:65219400-65230000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:65219800-65228600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:65220600-65232200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:65220800-65233000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:65221200-65228800	Enhancers	HMEC	breast
8	chr14:65221200-65231600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr14:65221200-65231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:65221400-65229800	Enhancers	Pancreas	Pancrea
11	chr14:65221400-65230000	Enhancers	Fetal Intestine Small	intestine
12	chr14:65221400-65231600	Enhancers	Spleen	Spleen
13	chr14:65221400-65232600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:65221600-65227800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr14:65221600-65232400	Enhancers	Fetal Intestine Large	intestine
16	chr14:65221800-65232200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:65222000-65229200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr14:65222200-65229600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr14:65222200-65231600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:65222400-65230000	Enhancers	Stomach Mucosa	stomach
21	chr14:65222600-65228800	Enhancers	Duodenum Mucosa	Duodenum
22	chr14:65222600-65231600	Enhancers	Fetal Heart	heart
23	chr14:65222800-65228200	Weak transcription	K562	blood
24	chr14:65223200-65229400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr14:65223200-65229800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr14:65223400-65229800	Enhancers	Left Ventricle	heart
27	chr14:65223400-65230000	Enhancers	Fetal Muscle Trunk	muscle
28	chr14:65223600-65230200	Weak transcription	Primary T cells from cord blood	blood
29	chr14:65223600-65230600	Enhancers	Right Ventricle	heart
30	chr14:65223600-65231600	Enhancers	Ovary	ovary
31	chr14:65223600-65232200	Enhancers	Fetal Stomach	stomach
32	chr14:65224000-65231400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr14:65224200-65229000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:65224600-65228600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr14:65224600-65228800	Enhancers	Brain Cingulate Gyrus	brain
36	chr14:65224600-65228800	Enhancers	Brain Hippocampus Middle	brain
37	chr14:65224600-65228800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr14:65225200-65228200	Weak transcription	Lung	lung
39	chr14:65225200-65228200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:65225200-65228800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:65225200-65229200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr14:65225200-65230800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:65225200-65231200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:65225400-65228200	Enhancers	NHEK	skin
45	chr14:65225400-65229200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr14:65225400-65229600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr14:65225600-65228000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr14:65225600-65228200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:65225600-65228600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:65225800-65228000	Weak transcription	Fetal Brain Male	brain

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